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288 genes
DNA Brain Health Test
Test type
Lab Test
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Saliva
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See allGetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.
The sample is easily collected via a saliva test and sent to our lab for analysis. The price includes return shipping to the lab. Within 6-8 weeks, you’ll receive your detailed results digitally.
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- In stock
- At-home test
- Results 6-8 weeks
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What Does the DNA Brain Health Test Analyse?
Seasonal Low Mood
CAMKMTDGKBDNAJB4FGGYFOXQ1GSTM3HLCSMPHOSPH6NRDE2PSAPPSMC1PTGER3TARS1
CAMKMT (Calmodulin-Lysine N-Methyltransferase): CAMKMT is an enzyme that methylates calmodulin, a protein involved in calcium signaling. This methylation is important for the regulation of calmodulin’s interaction with target proteins, affecting various calcium-dependent cellular processes, including muscle contraction, cell division, and memory formation.
DGKB (Diacylglycerol Kinase Beta): DGKB is an enzyme that converts diacylglycerol into phosphatidic acid, playing a critical role in lipid signaling pathways. It's involved in various cellular processes, including insulin sensitivity, and neurotransmitter signaling. Dysregulation of DGKB has been associated with metabolic disorders and is of interest in the study of diseases like diabetes and obesity.
DNAJB4 (DnaJ Heat Shock Protein Family (Hsp40) Member B4): DNAJB4 is a co-chaperone that assists in protein folding, degradation, and assembly. It helps in managing cellular stress responses, particularly in response to heat shock. DNAJB4 is important in maintaining cellular homeostasis and protecting cells from stress-induced damage.
FGGY (FGGY Carbohydrate Kinase Domain Containing): FGGY is a carbohydrate kinase involved in carbohydrate metabolism. Its exact role and functions are not fully elucidated, but carbohydrate kinases are known to be important in energy metabolism and may play roles in metabolic disorders.
FOXQ1 (Forkhead Box Q1): FOXQ1 is a member of the forkhead box family of transcription factors, involved in regulating gene expression linked to cell growth, proliferation, and differentiation. It has been implicated in the development and progression of various cancers, particularly through its role in epithelial-mesenchymal transition.
GSTM3 (Glutathione S-Transferase Mu 3): GSTM3 is part of the glutathione S-transferase family, which plays a significant role in detoxifying endogenous and exogenous compounds. It is involved in the metabolism of carcinogens, drugs, and products of oxidative stress, and variations in this gene can affect susceptibility to various diseases, including cancer and neurodegenerative disorders.
HLCS (Holocarboxylase Synthetase): HLCS is crucial for the functioning of carboxylase enzymes, which are important in protein, carbohydrate, and lipid metabolism. Mutations in HLCS can lead to holocarboxylase synthetase deficiency, a rare metabolic disorder characterized by multiple carboxylase deficiency, leading to skin, hair, and immune system problems, as well as developmental delay.
MPHOSPH6 (M-Phase Phosphoprotein 6): MPHOSPH6 is involved in the regulation of the cell cycle, particularly during mitosis. It is essential for proper cell division and has been studied in the context of cancer, where alterations in cell cycle regulation are a common feature.
NRDE2 (NRDE-2, Necessary For RNA Interference, Domain Containing): NRDE2 is a less-characterized gene believed to be involved in RNA interference, a process that regulates gene expression. It may play a role in the regulation of genes post-transcriptionally, affecting various cellular processes.
PSAP (Prosaposin): PSAP is a precursor protein that is cleaved into saposins, which are essential for the normal breakdown of lipids in lysosomes. Deficiencies in saposins can lead to various lysosomal storage disorders, characterized by the accumulation of complex lipids in cells. PSAP mutations are linked to conditions like Gaucher disease, Fabry disease, and metachromatic leukodystrophy.
PSMC1 (Proteasome 26S Subunit, ATPase 1): PSMC1 is part of the 26S proteasome, responsible for degrading ubiquitinated proteins. It plays a crucial role in maintaining protein homeostasis within cells by removing damaged or misfolded proteins, and is involved in regulating various cellular processes, including cell cycle and stress responses.
PTGER3 (Prostaglandin E Receptor 3): PTGER3 encodes one of the four receptors for prostaglandin E2, a lipid compound involved in various physiological processes, including inflammation, gastric mucosal integrity, and smooth muscle function. It plays a significant role in mediating cellular responses to prostaglandin E2, influencing pain perception, fever response, and can be implicated in cancer progression and inflammatory diseases.
TARS1 (Threonyl-TRNA Synthetase 1): TARS1 is an enzyme involved in the synthesis of threonyl-tRNA, an essential step in protein synthesis. It plays a critical role in translating genetic information into functional proteins. Mutations in TARS1 have been associated with neurological disorders due to its importance in protein synthesis.
Teeth Grinding
ANKK1DRD1DRD3DRD5HTR2A
ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is involved in signal transduction and potentially in the regulation of dopamine receptors, which are important for brain function. Variants near the ANKK1 gene have been linked to neuropsychiatric disorders and addiction, possibly due to their influence on dopamine signaling.
DRD1 (Dopamine Receptor D1): DRD1 is a major dopamine receptor in the brain, playing a key role in the dopaminergic system, which is involved in reward, motivation, and motor control. Dysregulation of DRD1 is implicated in psychiatric disorders like schizophrenia and addictive behaviors.
DRD3 (Dopamine Receptor D3): DRD3 is another dopamine receptor subtype, expressed in the brain. It's involved in cognitive, emotional, and motor functions. Variants in DRD3 have been studied in relation to schizophrenia, Parkinson's disease, and susceptibility to addictive behaviors.
DRD5 (Dopamine Receptor D5): DRD5 is a dopamine receptor that shares similarities with DRD1. It's involved in cognitive and emotional processes and is a target for certain pharmacological treatments for psychiatric and neurological disorders.
HTR2A (5-Hydroxytryptamine Receptor 2A): HTR2A is a receptor for serotonin, a key neurotransmitter in regulating mood, anxiety, and cognition. It's implicated in various psychiatric disorders, including depression, schizophrenia, and anxiety disorders. Variations in HTR2A are often studied in the context of psychopharmacology and psychiatric genetics.
Anxiety
ADGRB1GSK3BBORCS7CADM2CACHD1CHMP3FPR1GLYCTKMC4RMETTL14NT5C2PALMPITX1UPB1XKR6ZFP57
ADGRB1 (Adhesion G Protein-Coupled Receptor B1): ADGRB1, also known as BAI1, is a member of the adhesion G protein-coupled receptor family. It's involved in various cellular processes, including phagocytosis of apoptotic cells and synaptic development in the brain. Mutations in ADGRB1 have been linked to certain neurological disorders.
GSK3B (Glycogen Synthase Kinase 3 Beta): GSK3B is a kinase involved in numerous cellular processes, including glycogen metabolism, cell cycle regulation, and neuronal function. It's implicated in the development of diseases like Alzheimer's and is a target for certain psychiatric medications.
BORCS7 (BLOC-1 Related Complex Subunit 7): BORCS7 is a component of the BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). It's involved in the biogenesis of lysosome-related organelles, such as melanosomes in melanocytes. Dysfunctions in BORCS7 may impact pigmentation and neurological functions.
CADM2 (Cell Adhesion Molecule 2): CADM2 plays a role in the central nervous system, particularly in synaptic organization and function. It's involved in cognitive processes like learning and memory. Variants in CADM2 have been associated with neuropsychiatric disorders and addictive behaviors.
CACHD1 (Cache Domain Containing 1): CACHD1 is a relatively less-characterized gene. It is thought to be involved in ion channel regulation and neuronal signaling, potentially impacting synaptic transmission and nervous system function.
CHMP3 (Charged Multivesicular Body Protein 3): CHMP3 is part of the ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) involved in the formation of multivesicular bodies. It plays a critical role in the sorting of ubiquitinated membrane proteins for degradation in lysosomes.
FPR1 (Formyl Peptide Receptor 1): FPR1 is a receptor involved in immune responses, particularly in chemotaxis of neutrophils to sites of infection or inflammation. It recognizes formyl peptides, which are signals often associated with microbial invaders.
GLYCTK (Glycerate Kinase): GLYCTK is an enzyme involved in the metabolism of glycerate, a compound in glycolysis and gluconeogenesis pathways. Dysfunctions in GLYCTK can affect energy metabolism and have been linked to D-glyceric aciduria, a rare metabolic disorder.
MC4R (Melanocortin 4 Receptor): MC4R is a G protein-coupled receptor involved in regulating energy homeostasis, appetite, and body weight. Mutations in MC4R are one of the most common genetic causes of obesity due to its role in controlling energy balance. It is a target for developing obesity treatments.
METTL14 (Methyltransferase Like 14): METTL14 is part of the complex involved in N6-methyladenosine (m6A) RNA modification. This modification is crucial for various aspects of RNA metabolism and function. Alterations in METTL14 can impact gene expression regulation and are associated with certain cancers.
NT5C2 (5'-Nucleotidase, Cytosolic II): NT5C2 is an enzyme that regulates nucleotide levels in cells, particularly involved in purine metabolism. It has been linked to resistance to chemotherapy in certain leukemias and has implications in purine metabolism disorders.
PALM (Paralemmin): PALM is involved in neuronal plasticity, membrane trafficking, and cytoskeletal dynamics. It plays a role in the formation and maintenance of dendritic spines, which are essential for synaptic signaling in neurons.
PITX1 (Paired Like Homeodomain 1): PITX1 is a transcription factor crucial for the development of hindlimb structures and pituitary gland. Mutations in PITX1 can lead to developmental disorders like Liebenberg syndrome, characterized by upper limb malformations.
UPB1 (Beta-Ureidopropionase 1): UPB1 is an enzyme involved in the catabolism of pyrimidines. Deficiencies in UPB1 can lead to beta-ureidopropionase deficiency, a rare disorder affecting the breakdown of nucleotides, leading to neurological symptoms and developmental delay.
XKR6 (XK Related 6): XKR6 is a less-characterized member of the XK family of proteins, potentially involved in transmembrane transport. Its specific function and implications in human health are not fully understood.
ZFP57 (ZFP57 Zinc Finger Protein): ZFP57 is a KRAB-zinc finger protein involved in the regulation of genomic imprinting and methylation. It's essential for maintaining the epigenetic stability of imprinted genes during early embryonic development. Mutations in ZFP57 have been linked to transient neonatal diabetes and other imprinting disorders, underscoring its role in epigenetic regulation and developmental processes.
Low Mood
APEHCRHR1CSNK1G1DPY19L3GPM6AKIAA1109LINGO1MEF2CPTPRTRABGAP1LSLC44A5TCF4UBXN2AVWC2LZCCHC7
APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that degrades acetylated peptides, playing a role in protein turnover and degradation. It's involved in the processing of damaged or misfolded proteins, thereby maintaining protein homeostasis. Dysfunctions in APEH have implications in neurodegenerative diseases and in the response to oxidative stress.
CRHR1 (Corticotropin-Releasing Hormone Receptor 1): CRHR1 is a receptor for corticotropin-releasing hormone, a key regulator in the stress response. It's involved in the hypothalamic-pituitary-adrenal axis, affecting stress, mood, and behavior. Dysregulation of CRHR1 is implicated in psychiatric disorders, including depression and anxiety.
CSNK1G1 (Casein Kinase 1 Gamma 1): CSNK1G1 is part of the casein kinase 1 family, involved in various cellular processes including cell division, circadian rhythms, and Wnt signaling. Its role in Wnt signaling makes it relevant in developmental processes and potentially in cancer biology.
DPY19L3 (Dpy-19 Like 3): DPY19L3 is a less-characterized member of the DPY19 family, potentially involved in transmembrane transport or protein trafficking. Its precise functions and role in human health are not fully elucidated.
GPM6A (Glycoprotein M6A): GPM6A encodes a glycoprotein primarily expressed in the nervous system, playing a critical role in neurite outgrowth and the formation of neuronal networks. It's involved in the development and maintenance of the myelin sheath, crucial for efficient nerve signal transmission. GPM6A has been implicated in neurological disorders, including schizophrenia and bipolar disorder, due to its role in neuronal plasticity and myelination. Research suggests that alterations in GPM6A expression or function can impact synaptic connectivity and brain function, potentially contributing to the pathophysiology of these neuropsychiatric conditions.
KIAA1109: KIAA1109 is a gene associated with a broad range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its specific function is not fully understood, it is believed to play a role in immune regulation and inflammatory responses. The study of KIAA1109 is significant for understanding the genetic basis of autoimmune disorders and for developing targeted therapies.
LINGO1 (Leucine Rich Repeat and Ig Domain Containing 1): LINGO1 is a key regulator in neural development, particularly in the myelination process of neurons. It acts as a negative regulator of oligodendrocyte differentiation and myelination, and has been implicated in neurodegenerative diseases like multiple sclerosis and Parkinson's disease. Inhibiting LINGO1 has been explored as a therapeutic approach to enhance remyelination and neural repair in these conditions.
MEF2C (Myocyte Enhancer Factor 2C): MEF2C is a transcription factor crucial in both muscle development and neuronal differentiation. Mutations in MEF2C are linked to severe mental retardation, autistic features, and epilepsy, highlighting its role in brain development and function. In cardiac muscle, MEF2C is essential for proper heart formation and development, with dysfunctions leading to congenital heart defects.
PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a member of the protein tyrosine phosphatase family, which plays a pivotal role in cell signaling. PTPRT is involved in the regulation of various cellular processes, including cell growth and differentiation. Mutations in PTPRT have been implicated in several cancers, particularly colorectal cancer, due to its role in signal transduction pathways that control cell proliferation.
RABGAP1L (RAB GTPase Activating Protein 1-Like): RABGAP1L is involved in intracellular membrane trafficking by regulating RAB GTPases. It plays a key role in vesicle transport and cellular logistics. Dysregulation of RABGAP1L can lead to disturbances in cellular transport mechanisms, and it has been studied in the context of neurological disorders, where proper membrane trafficking is crucial for neuronal function.
SLC44A5 (Solute Carrier Family 44 Member 5): SLC44A5 is a member of the solute carrier family, proteins that facilitate the transport of various substances across cellular membranes. While the specific substrates and physiological roles of SLC44A5 are not fully elucidated, it may be involved in cellular transport processes critical for maintaining homeostasis and cellular function.
TCF4 (Transcription Factor 4): TCF4 is a transcription factor that plays an important role in the development of the nervous system. It is involved in neurodevelopmental processes and has been linked to psychiatric disorders, including schizophrenia. TCF4's role in gene regulation is crucial for proper brain development and function.
UBXN2A (UBX Domain Protein 2A): UBXN2A is involved in the ubiquitin-proteasome system, which regulates protein degradation and quality control in cells. It may play a role in the response to cellular stress and in the regulation of protein turnover, which is vital for maintaining cellular health and preventing diseases.
VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like): VWC2L is a less-characterized protein with a von Willebrand factor C domain, typically involved in extracellular matrix interactions and cell adhesion processes. It might play a role in tissue development and integrity, but its specific functions in human physiology and pathology remain to be fully explored.
ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is part of the zinc finger protein family, known for roles in DNA binding and gene regulation. Its precise function is not well-defined, but like other zinc finger proteins, it may be involved in transcriptional regulation, RNA processing, or DNA repair processes, impacting various cellular functions and potentially playing a role in disease mechanisms.
Psychological Trauma
ATP10BCSMD1CRHR2FAAHKIAA1109LRRC4CMAPTMLKLOXTRPTPN7RORASRRSTEAP1BTCF4USTZNF804A
ATP10B (ATPase Phospholipid Transporting 10B): ATP10B is a member of the P-type ATPases, involved in transporting lipids across cellular membranes. Its specific role is less understood, but it may be significant in lipid metabolism and cellular homeostasis, with potential implications for neurodegenerative diseases like Parkinson’s.
CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene implicated in neural development and functioning. It is thought to play a role in the immune system and in synaptic plasticity. Genetic studies have associated CSMD1 with neuropsychiatric disorders, including schizophrenia and cognitive functions.
CRHR2 (Corticotropin-Releasing Hormone Receptor 2): CRHR2 is a receptor for corticotropin-releasing hormone, involved in stress response, metabolic processes, and cardiovascular function. It plays a role in regulating the body's response to stress and has been studied in relation to anxiety and heart diseases.
FAAH (Fatty Acid Amide Hydrolase): FAAH is an enzyme that breaks down endocannabinoids, which are involved in pain sensation, mood, and appetite. FAAH inhibitors are explored for therapeutic potential in pain, anxiety, and certain neurological disorders due to their role in modulating endocannabinoid signaling.
KIAA1109: KIAA1109 is a gene associated with a broad range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its specific function is not fully understood, it is believed to play a role in immune regulation and inflammatory responses. The study of KIAA1109 is significant for understanding the genetic basis of autoimmune disorders and for developing targeted therapies.
LRRC4C (Leucine Rich Repeat Containing 4C): LRRC4C, also known as NGL-1, is involved in neural development, particularly in synapse formation. It plays a role in the regulation of synaptic connectivity and has been studied in relation to neurodevelopmental disorders.
MAPT (Microtubule Associated Protein Tau): MAPT encodes the tau protein, which stabilizes microtubules in neurons. Abnormal aggregation of tau is a hallmark of neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia, making it a key focus in neurodegenerative research.
MLKL (Mixed Lineage Kinase Domain-Like): MLKL is a key player in necroptosis, a form of programmed cell death. It's involved in inflammatory responses and has been implicated in a variety of diseases, including neurodegenerative disorders, ischemic injury, and viral infections.
OXTR (Oxytocin Receptor): OXTR is the receptor for oxytocin, a hormone involved in social bonding, sexual reproduction, childbirth, and maternal behaviors. It's significant for behaviors associated with bonding and trust, and dysregulation is implicated in conditions like autism and social anxiety disorders.
PTPN7 (Protein Tyrosine Phosphatase, Non-Receptor Type 7): PTPN7 is an enzyme involved in cell signaling, particularly in the immune system. It plays a crucial role in the regulation of T-cell activation and differentiation, impacting immune responses. Dysregulation of PTPN7 can lead to immune-related disorders and has potential implications in autoimmune diseases and cancer due to its influence on cell signaling pathways.
RORA (RAR-Related Orphan Receptor A): RORA is a nuclear receptor with diverse roles in circadian rhythm regulation, immune responses, and neurodevelopment. It influences the expression of genes involved in these processes and has been linked to various conditions, including psychiatric disorders like depression and bipolar disorder, as well as autoimmune diseases. RORA's involvement in both the central nervous system and immune system underscores its importance in health and disease.
SRR (Serine Racemase): SRR catalyzes the production of D-serine, a co-agonist of the NMDA receptor, which is critical for neurotransmission and synaptic plasticity in the brain. Alterations in SRR activity can affect glutamatergic signaling and have been linked to neurodegenerative disorders like Alzheimer's disease and psychiatric conditions such as schizophrenia, reflecting its key role in brain function and mental health.
STEAP1B (STEAP Family Member 1B): STEAP1B, part of the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family, is involved in metalloreduction, particularly iron and copper reduction. It may play a role in cellular iron homeostasis and metabolism, which are vital for various physiological processes. The specific functions of STEAP1B in human health and disease are still being explored, with potential implications for understanding iron-related metabolic pathways.
TCF4 (Transcription Factor 4): TCF4 is a transcription factor that plays an important role in the development of the nervous system. It is involved in neurodevelopmental processes and has been linked to psychiatric disorders, including schizophrenia. TCF4's role in gene regulation is crucial for proper brain development and function.
UST (Uronyl 2-Sulfotransferase): UST is an enzyme involved in the sulfation of proteoglycans, which are important components of the extracellular matrix. It plays a role in various biological processes, including cell signaling and tissue repair. Dysregulation of UST activity can impact connective tissue function and may be relevant in disorders involving the extracellular matrix.
ZNF804A (Zinc Finger Protein 804A): ZNF804A is a zinc finger protein implicated in psychiatric disorders, particularly schizophrenia and bipolar disorder. It is believed to play a role in brain development and synaptic plasticity. Variations in ZNF804A have been associated with altered brain structure and function, highlighting its importance in neuropsychiatric research and the potential for targeted therapies.
Addictions
ADH1BADH1CCENPWCDH6CSDC2DOCK3DNMT3BEFNA5IREB2MYCPOLR1FPMM1RGS18RTN4SLC22A23TANC1XYLT1ZMYM6ZNF516
ADH1B (Alcohol Dehydrogenase 1B): ADH1B is involved in the initial step of alcohol metabolism, converting ethanol to acetaldehyde. Genetic variations in ADH1B can affect the rate of alcohol metabolism, influencing alcohol tolerance and susceptibility to alcohol-related diseases.
ADH1C (Alcohol Dehydrogenase 1C): Similar to ADH1B, ADH1C is involved in the metabolic breakdown of alcohol in the liver. It plays a role in the oxidation of ethanol to acetaldehyde. Genetic variations in ADH1C can influence individual responses to alcohol consumption and have been linked to risks of alcohol dependence and various alcohol-related health issues.
CENPW (Centromere Protein W): CENPW is involved in chromosome segregation during cell division, particularly in the formation and function of the centromere. It's essential for accurate cell division, and dysfunction can lead to chromosomal instability, which is a key feature in many cancers.
CDH6 (Cadherin 6): CDH6 is part of the cadherin family, which mediates cell-cell adhesion in various tissues. It plays a role in kidney and neural development and may be involved in cancer metastasis, given the role of cadherins in maintaining tissue integrity and structure.
CSDC2 (Cold Shock Domain Containing C2): CSDC2 is a protein implicated in RNA binding and regulation of gene expression. It is thought to be involved in cellular responses to environmental stresses, particularly temperature changes. The specific roles of CSDC2 in human health and disease are still being explored.
DOCK3 (Dedicator Of Cytokinesis 3): DOCK3 is a member of the DOCK family, involved in actin cytoskeleton remodeling and cell motility. It's particularly important in the nervous system, where it may influence neural development and synaptic function. Dysregulation of DOCK3 has been linked to neurodegenerative diseases.
DNMT3B (DNA Methyltransferase 3 Beta): DNMT3B is crucial in DNA methylation, a key epigenetic modification process affecting gene expression. It's essential in developmental processes and has been implicated in various disorders, including immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF syndrome), as well as in cancer.
EFNA5 (Ephrin A5): EFNA5 belongs to the ephrin family and acts as a ligand for Eph receptors, which are involved in various developmental processes, including axon guidance, angiogenesis, and tissue patterning. Dysregulation of EFNA5 signaling can contribute to aberrant development and has been studied in the context of cancer progression.
IREB2 (Iron Responsive Element Binding Protein 2): IREB2 plays a key role in iron metabolism by regulating the expression of genes involved in iron storage and transport. It is crucial in maintaining iron homeostasis in the body, binding to iron-responsive elements (IREs) in the mRNA of these genes to modulate their stability and translation. Imbalances in iron levels, whether due to deficiency or overload, can lead to various health issues, including anemia or iron overload disorders like hemochromatosis. The study of IREB2 is particularly significant in understanding iron-related metabolic pathways and their implications in conditions such as neurodegenerative diseases, where iron metabolism is often disrupted.
MYC (MYC Proto-Oncogene, BHLH Transcription Factor): The MYC gene is a well-known oncogene playing a crucial role in cell cycle progression, apoptosis, and cellular transformation. It's a transcription factor that regulates the expression of numerous genes, influencing various cellular processes. Overexpression of MYC is commonly observed in a wide range of cancers, making it a significant focus in oncology research. The regulation of MYC and its pathways is a key area of study for developing targeted cancer therapies, as its dysregulation is linked to tumorigenesis, cancer progression, and resistance to therapy.
POLR1F (RNA Polymerase I Subunit F): POLR1F is an integral component of RNA polymerase I, responsible for the transcription of ribosomal RNA (rRNA), a critical component of ribosomes. Ribosomes are essential for protein synthesis in cells, and thus, POLR1F plays a vital role in cellular growth and function. Dysfunctions or mutations in POLR1F can lead to issues in ribosome biogenesis and function, potentially resulting in diseases associated with impaired protein synthesis. The study of POLR1F and its associated pathways is important for understanding various cellular processes and conditions related to ribosomal function and protein synthesis.
PMM1 (Phosphomannomutase 1): PMM1 is an enzyme in the mannose pathway, critical for glycosylation, a process essential for proper function and stability of many proteins. Mutations in PMM1 can lead to congenital disorders of glycosylation, affecting multiple systems, including neurological and immune functions.
RGS18 (Regulator of G Protein Signaling 18): RGS18 is involved in the regulation of G protein-coupled receptor signaling, specifically influencing signaling in hematopoietic cells. It plays a role in platelet function and immune responses, with its dysregulation potentially impacting blood coagulation and immune system disorders.
RTN4 (Reticulon 4): RTN4, also known as Nogo, is a protein known for its role in inhibiting nerve fiber growth and regeneration in the central nervous system. It's significant in the context of spinal cord injury and neurodegenerative diseases, as it impedes the ability of axons to regrow after injury. RTN4 has been a target in research seeking to promote neural regeneration and repair.
SLC22A23 (Solute Carrier Family 22 Member 23): SLC22A23 belongs to a family of transporters that facilitate the movement of organic ions and small molecules across cell membranes. While the specific substrates and physiological roles of SLC22A23 are not well-established, it is thought to play a role in the transport of organic compounds in various tissues, potentially impacting drug disposition and metabolic processes.
TANC1 (Tetratricopeptide Repeat, Ankyrin Repeat, and Coiled-Coil Containing 1): TANC1 is a protein involved in synaptic function and neural development. It's thought to play a role in the formation and maintenance of synapses, the junctions through which neurons communicate. Dysfunctions in TANC1 may impact neural connectivity and have been explored in relation to neurodevelopmental disorders.
XYLT1 (Xylosyltransferase 1): XYLT1 is an enzyme involved in the biosynthesis of proteoglycans, which are important components of the extracellular matrix. It adds xylose to specific serine residues in proteoglycans, a crucial step in the formation of connective tissues. Mutations in XYLT1 can lead to skeletal and connective tissue disorders, highlighting its role in tissue development and maintenance.
ZMYM6 (Zinc Finger MYM-Type Containing 6): ZMYM6 is a zinc finger protein thought to be involved in transcriptional regulation and chromatin remodeling. It may play a role in gene expression regulation and has been studied in the context of hematological malignancies. The specific functions of ZMYM6 in normal physiology and disease are still being elucidated.
ZNF516 (Zinc Finger Protein 516): ZNF516 is a KRAB zinc finger protein, which suggests a role in DNA binding and transcriptional regulation. It's implicated in the regulation of cardiac genes and has been studied in relation to cardiovascular diseases. Dysregulation of ZNF516 may influence cardiac development and function, with potential implications for heart disease and heart failure.
Alcohol Addiction
ADH1AADH1BADH1CADH4FBXO8GLRX3HNRNPA1P48MRPL39MYCPPFIA2RBPJRTN4SLC39A8TSPAN5
ADH1A (Alcohol Dehydrogenase 1A): ADH1A is an enzyme involved in the metabolism of alcohols in the liver, converting ethanol to acetaldehyde. It plays a crucial role in alcohol metabolism and is important in understanding the body's processing of alcohol and its genetic variations that can influence susceptibility to alcoholism and alcohol-related disorders.
ADH1B (Alcohol Dehydrogenase 1B): ADH1B is involved in the initial step of alcohol metabolism, converting ethanol to acetaldehyde. Genetic variations in ADH1B can affect the rate of alcohol metabolism, influencing alcohol tolerance and susceptibility to alcohol-related diseases.
ADH1C (Alcohol Dehydrogenase 1C): Similar to ADH1B, ADH1C is involved in the metabolic breakdown of alcohol in the liver. It plays a role in the oxidation of ethanol to acetaldehyde. Genetic variations in ADH1C can influence individual responses to alcohol consumption and have been linked to risks of alcohol dependence and various alcohol-related health issues.
ADH4 (Alcohol Dehydrogenase 4): ADH4 is part of the alcohol dehydrogenase family and is involved in the metabolism of various alcohols, including ethanol. It also plays a role in the metabolism of retinol (vitamin A) to retinaldehyde, which is significant for vision and overall retinoid metabolism.
FBXO8 (F-Box Protein 8): FBXO8 is part of the F-box family of proteins, which play critical roles in the ubiquitin-proteasome pathway, a system crucial for protein degradation and turnover in cells. As an F-box protein, FBXO8 is likely involved in targeting specific proteins for degradation, thereby regulating various cellular processes including cell cycle, signal transduction, and immune responses. The exact substrates and physiological functions of FBXO8 are not fully understood, but its involvement in protein degradation suggests its potential impact on cellular homeostasis and disease states, particularly in conditions where protein aggregation or misfolding is a concern, such as neurodegenerative diseases.
GLRX3 (Glutaredoxin 3): GLRX3, a member of the glutaredoxin family, plays a pivotal role in maintaining cellular redox balance by catalyzing the reversible oxidation and reduction of protein disulfide bonds. This activity is crucial in protecting cells from oxidative stress, which can lead to cellular damage and is implicated in various diseases, including cancer, cardiovascular diseases, and neurodegenerative disorders. GLRX3's antioxidant function also has implications in the regulation of cellular signaling pathways, particularly those affected by redox changes, highlighting its importance in cellular health and the stress response.
HNRNPA1P48 (Heterogeneous Nuclear Ribonucleoprotein A1 Pseudogene 48): HNRNPA1P48 represents a pseudogene related to the HNRNPA1 gene, which encodes a protein involved in mRNA processing and transport. While HNRNPA1P48 itself may not encode a functional protein, pseudogenes can play regulatory roles in gene expression, potentially through the production of non-coding RNAs or by acting as decoys for regulatory molecules. The specific functions of HNRNPA1P48 in cellular processes are not well established, but its relationship to HNRNPA1 suggests a possible involvement in RNA metabolism or regulation.
RPL39 (Mitochondrial Ribosomal Protein L39): MRPL39 is a component of the mitochondrial ribosome, involved in mitochondrial protein synthesis. This protein synthesis is crucial for the production of components of the mitochondrial respiratory chain, essential for cellular energy production. Dysfunctions in MRPL39 can lead to mitochondrial disorders, affecting energy metabolism in cells. The role of MRPL39 in mitochondrial function is critical, as mitochondrial dysfunctions are associated with a wide range of diseases, including neurodegenerative disorders, muscle diseases, and metabolic syndromes.
MYC (MYC Proto-Oncogene, BHLH Transcription Factor): The MYC gene is a well-known oncogene playing a crucial role in cell cycle progression, apoptosis, and cellular transformation. It's a transcription factor that regulates the expression of numerous genes, influencing various cellular processes. Overexpression of MYC is commonly observed in a wide range of cancers, making it a significant focus in oncology research. The regulation of MYC and its pathways is a key area of study for developing targeted cancer therapies, as its dysregulation is linked to tumorigenesis, cancer progression, and resistance to therapy.
PPFIA2 (PTPRF Interacting Protein Alpha 2): PPFIA2 is a member of the liprin family and plays a role in cell communication and adhesion. It's involved in the regulation of synaptic formation and maintenance, particularly in the central nervous system. The protein influences the development and plasticity of neural networks, and alterations in its function may contribute to neurological disorders.
RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region): RBPJ is a key transcription factor in the Notch signaling pathway, which is crucial for cell fate determination, differentiation, and development. Dysregulation of RBPJ and the Notch signaling pathway can lead to various diseases, including several forms of cancer and developmental disorders. RBPJ's role in cell differentiation and tissue development makes it a significant gene in both developmental biology and disease pathogenesis.
RTN4 (Reticulon 4): RTN4, also known as Nogo, is a protein known for its role in inhibiting nerve fiber growth and regeneration in the central nervous system. It's significant in the context of spinal cord injury and neurodegenerative diseases, as it impedes the ability of axons to regrow after injury. RTN4 has been a target in research seeking to promote neural regeneration and repair.
SLC39A8 (Solute Carrier Family 39 Member 8): SLC39A8 is a transporter protein involved in the cellular uptake of divalent cations, particularly zinc and manganese. It plays a crucial role in metal ion homeostasis and is important for various biological processes, including immune function and neural development. Mutations in SLC39A8 have been associated with multiple health issues, including congenital disorders of glycosylation.
TSPAN5 (Tetraspanin 5): TSPAN5 is part of the tetraspanin family, known for their roles in cell signaling, adhesion, and migration. Tetraspanins are involved in the organization of various cellular processes and are important in the development and function of the immune system and in cancer metastasis. TSPAN5, in particular, may play a role in neural development and synaptic function, but its specific functions and implications in human health and disease are still being explored.
Tobacco Addiction
ADAMTSL1AZIN2CHRNA4CHRNB3DNMT3BGLIS3GPSM1IREB2NELL1NR5A2PEX2POLR1FR3HCC1LSARDHTANC1ZMYM6
ADAMTSL1 (ADAMTS Like 1): ADAMTSL1 is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family and is known to be involved in extracellular matrix organization and cell-matrix interactions. While its exact physiological role is not fully understood, its structural similarity to metalloproteinases suggests a potential role in tissue remodeling and development. Dysfunctions in ADAMTSL1 or related proteins could impact processes like cell adhesion, migration, and angiogenesis, with potential implications in developmental disorders and various diseases involving the extracellular matrix.
AZIN2 (Antizyme Inhibitor 2): AZIN2 regulates the activity of ornithine decarboxylase, a key enzyme in polyamine biosynthesis which is important for cell growth and differentiation. It acts by inhibiting antizyme, which usually downregulates ornithine decarboxylase. Abnormalities in polyamine metabolism, potentially influenced by AZIN2, have been associated with cancer, as polyamines are critical for cell proliferation.
CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit): CHRNA4 encodes a subunit of the nicotinic acetylcholine receptor, which is important in the nervous system for neurotransmission. Mutations in CHRNA4 have been linked to certain forms of epilepsy and other neurological disorders, reflecting its role in modulating neuronal excitability and synaptic transmission.
CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit): CHRNB3 is another subunit of the nicotinic acetylcholine receptor, and like CHRNA4, is involved in cholinergic neurotransmission. Genetic variations in CHRNB3 are associated with nicotine dependence and related behavioral traits, highlighting its role in the addictive properties of nicotine and potential influence on neural circuitry involved in addiction.
DNMT3B (DNA Methyltransferase 3 Beta): DNMT3B is crucial in DNA methylation, a key epigenetic modification process affecting gene expression. It's essential in developmental processes and has been implicated in various disorders, including immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF syndrome), as well as in cancer.
GLIS3 (GLIS Family Zinc Finger 3): GLIS3 is a transcription factor that plays a significant role in the regulation of gene expression in various biological processes, including thyroid hormone signaling and pancreatic beta-cell development. Mutations in GLIS3 have been linked to a range of disorders, including congenital hypothyroidism and neonatal diabetes, underscoring its importance in endocrine function and development.
GPSM1 (G Protein Signaling Modulator 1): GPSM1 is involved in modulating G protein signaling, crucial for various cellular responses to external stimuli. It plays a role in cell polarization and directional movement, and has been studied in the context of cancer, particularly in relation to its potential role in tumor cell migration and invasion.
IREB2 (Iron Responsive Element Binding Protein 2): IREB2 plays a key role in iron metabolism by regulating the expression of genes involved in iron storage and transport. It is crucial in maintaining iron homeostasis in the body, binding to iron-responsive elements (IREs) in the mRNA of these genes to modulate their stability and translation. Imbalances in iron levels, whether due to deficiency or overload, can lead to various health issues, including anemia or iron overload disorders like hemochromatosis. The study of IREB2 is particularly significant in understanding iron-related metabolic pathways and their implications in conditions such as neurodegenerative diseases, where iron metabolism is often disrupted.
NELL1 (NEL Like 1): NELL1 is a protein involved in bone and cartilage growth and regeneration. It's significant in skeletal development and has been implicated in osteochondral diseases and in promoting bone healing. The study of NELL1 is important for understanding skeletal biology and for developing therapies for bone-related disorders and injuries.
NR5A2 (Nuclear Receptor Subfamily 5 Group A Member 2): NR5A2, also known as LRH-1, is a nuclear receptor involved in a wide range of physiological processes, including cholesterol homeostasis, bile acid synthesis, and steroidogenesis. It is also implicated in pancreatic development and function. Dysregulation of NR5A2 has been associated with various cancers, particularly gastrointestinal cancers, and metabolic disorders.
PEX2 (Peroxisomal Biogenesis Factor 2): PEX2 is essential for the formation and maintenance of peroxisomes, cellular organelles that play a key role in lipid metabolism and the detoxification of reactive oxygen species. Mutations in PEX2 can lead to peroxisomal disorders, such as Zellweger syndrome, characterized by severe developmental and neurological impairments.
POLR1F (RNA Polymerase I Subunit F): POLR1F is an integral component of RNA polymerase I, responsible for the transcription of ribosomal RNA (rRNA), a critical component of ribosomes. Ribosomes are essential for protein synthesis in cells, and thus, POLR1F plays a vital role in cellular growth and function. Dysfunctions or mutations in POLR1F can lead to issues in ribosome biogenesis and function, potentially resulting in diseases associated with impaired protein synthesis. The study of POLR1F and its associated pathways is important for understanding various cellular processes and conditions related to ribosomal function and protein synthesis.
R3HCC1L (R3H Domain and Coiled-Coil Containing 1-Like): R3HCC1L is a less characterized gene, but based on its domain structure, it is likely involved in RNA binding and may play a role in RNA metabolism or regulation. The specific functions of R3HCC1L in cellular processes and its implications in human health and disease are areas for future research.
SARDH (Sarcosine Dehydrogenase): SARDH is involved in the metabolism of sarcosine, an intermediate in the metabolism of choline to glycine. It plays a role in one-carbon metabolism, which is important for various biological processes, including DNA methylation. Dysfunctions in SARDH can affect metabolic pathways and have been studied in the context of certain metabolic disorders.
TANC1 (Tetratricopeptide Repeat, Ankyrin Repeat, and Coiled-Coil Containing 1): TANC1 is a protein involved in synaptic function and neural development. It's thought to play a role in the formation and maintenance of synapses, the junctions through which neurons communicate. Dysfunctions in TANC1 may impact neural connectivity and have been explored in relation to neurodevelopmental disorders.
ZMYM6 (Zinc Finger MYM-Type Containing 6): ZMYM6 is a zinc finger protein thought to be involved in transcriptional regulation and chromatin remodeling. It may play a role in gene expression regulation and has been studied in the context of hematological malignancies. The specific functions of ZMYM6 in normal physiology and disease are still being elucidated.
Eating Disorders
C8ORF37CAMK1DCHODLDAB1HSD17B11KIAA0825MAGI3MSRANKAIN3OLIG1OPTNPCDH7RASGRF2RMI2SELENOMSMIM21TAS2R5TMEM106BZNF503
C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene associated with retinal dystrophies and Bardet-Biedl syndrome, a disorder characterized by vision loss, obesity, and other symptoms. Mutations in this gene can lead to retinal degeneration and impaired ciliary function, highlighting its role in photoreceptor cell maintenance and cilia-related processes.
CAMK1D (Calcium/Calmodulin Dependent Protein Kinase ID): CAMK1D is part of the calcium/calmodulin-dependent protein kinase family, involved in mediating cellular responses to calcium fluctuations. It plays a role in various cellular processes, including regulation of gene expression, cell cycle, and metabolism. CAMK1D has been implicated in diabetes and cardiovascular diseases, underlining its importance in metabolic regulation and cellular signaling.
CHODL (Chondrolectin): CHODL encodes a protein that may be involved in cell adhesion and chondrocyte differentiation. Its exact function is not fully understood, but it may have roles in cartilage formation and musculoskeletal development.
DAB1 (Disabled Homolog 1): DAB1 is crucial for brain development, particularly in the regulation of neuronal positioning and migration. It's a key player in the Reelin signaling pathway, which is important for the organization of brain structure during development. Mutations in DAB1 can result in neurological disorders due to its critical role in establishing proper neural networks.
HSD17B11 (Hydroxysteroid 17-Beta Dehydrogenase 11): HSD17B11 is an enzyme involved in the metabolism of steroids and fatty acids. It participates in the conversion of androgen and estrogen precursors and may play a role in the regulation of sex hormone levels. Its function is also implicated in lipid metabolism and has potential relevance to metabolic disorders.
KIAA0825: KIAA0825 is a less characterized gene with currently limited information regarding its function. Genes within the KIAA series were initially identified in large-scale sequencing projects and often require further research to fully understand their roles in cellular processes and disease mechanisms.
MAGI3 (Membrane Associated Guanylate Kinase, WW, and PDZ Domain Containing 3): MAGI3 is a scaffolding protein involved in the assembly of multiprotein complexes at cell junctions and in signal transduction pathways. It's implicated in cellular processes like epithelial cell polarity and may play a role in cancer development, particularly in the context of cell-cell adhesion and signaling.
MSRA (Methionine Sulfoxide Reductase A): MSRA is an enzyme that repairs oxidatively damaged proteins by reducing methionine sulfoxide to methionine, helping to protect cells from oxidative stress. Its antioxidant function is crucial in maintaining protein function and cellular health, with implications for aging and diseases related to oxidative damage, including neurodegenerative disorders.
NKAIN3 (Na+/K+ Transporting ATPase Interacting 3): NKAIN3 is involved in the regulation of the Na+/K+ ATPase, which is essential for maintaining ion gradients across cell membranes. Its role is important for neuronal function, particularly in regulating neuronal excitability and signal transmission. Dysfunctions in NKAIN3 could affect neural signaling and have implications for neurological disorders.
OLIG1 (Oligodendrocyte Transcription Factor 1): OLIG1 is a key transcription factor in the development and maturation of oligodendrocytes, the cells responsible for forming myelin in the central nervous system. It plays a crucial role in myelination, which is essential for the proper functioning of the nervous system. Dysfunctions or mutations in OLIG1 can impact myelin formation and are relevant in understanding demyelinating diseases like multiple sclerosis.
OPTN (Optineurin): OPTN is involved in various cellular processes, including membrane trafficking, autophagy, and NF-kappaB signaling. Mutations in OPTN are linked to glaucoma and amyotrophic lateral sclerosis (ALS). Its role in autophagy and neuroinflammation makes it a significant protein in studying neurodegenerative diseases and the mechanisms of neuronal cell death.
PCDH7 (Protocadherin 7): PCDH7, a member of the cadherin superfamily, is involved in cell adhesion and neuronal connectivity. It plays a role in the development of the nervous system and in maintaining synaptic functions. Genetic studies have linked PCDH7 to neurodevelopmental disorders and potentially to psychiatric conditions, reflecting its importance in brain development and function.
RASGRF2 (RAS Protein-Specific Guanine Nucleotide-Releasing Factor 2): RASGRF2 is a guanine nucleotide exchange factor that activates RAS proteins, playing a key role in signal transduction. It's involved in synaptic plasticity and memory formation in the brain. Dysregulation of RASGRF2 has been implicated in the development of certain types of cancer and in cognitive functions.
RMI2 (RecQ Mediated Genome Instability 2): RMI2 is part of a protein complex involved in maintaining genomic stability, particularly in the repair of DNA double-strand breaks and in the resolution of DNA recombination structures. Its function is crucial in preventing genomic instability, a key factor in cancer development and progression.
SELENOM (Selenoprotein M): SELENOM is a member of the selenoprotein family, proteins that incorporate selenium. It's predominantly found in the brain and is thought to have antioxidant properties. The exact role of SELENOM in neurological functions is not fully understood, but it may be involved in protecting neurons from oxidative stress, with implications for neurodegenerative diseases.
SMIM21 (Small Integral Membrane Protein 21): SMIM21 is a relatively less characterized protein, and its specific role in cellular processes is not well established. As a membrane protein, it might be involved in cellular signaling or transport processes, but further research is needed to elucidate its function and significance in human health and disease.
TAS2R5 (Taste 2 Receptor Member 5): TAS2R5 is one of the human bitter taste receptors, involved in the perception of bitterness. These receptors are important for detecting potentially harmful substances in food. Variations in TAS2R5 and other taste receptors can influence dietary preferences and nutritional choices, potentially impacting metabolic and overall health.
TMEM106B (Transmembrane Protein 106B): TMEM106B is implicated in lysosomal function and neuronal health. Variants in TMEM106B have been associated with neurodegenerative diseases, including frontotemporal lobar degeneration. Its role in neuronal function and maintenance, as well as in lysosomal homeostasis, makes it a protein of interest in studying mechanisms underlying neurodegeneration.
ZNF503 (Zinc Finger Protein 503): ZNF503 is a zinc finger protein involved in developmental processes, particularly in limb and neuronal development. It acts as a transcriptional regulator and has been implicated in the regulation of cell differentiation and growth. Dysregulation of ZNF503 may affect developmental pathways and has potential implications in developmental disorders and cancer.
Cognitive Decline
ALCAMB3GALNT1CHD6CTBP2DUSP15FOXJ2HHEXIRX2LAMP3MRPS18COPCMLOTOP1PRR16TEKWDFY2ZNF799
ALCAM (Activated Leukocyte Cell Adhesion Molecule): ALCAM is a cell adhesion molecule involved in various biological processes including neuronal development, immune responses, and tumor progression. It facilitates cell-cell interactions and is important for the migration and targeting of cells. Dysregulation of ALCAM has been implicated in cancer metastasis and autoimmune diseases.
B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1): B3GALNT1 is involved in glycosylation, a process essential for the proper function of many proteins. It synthesizes a type of glycan structure important for cell-cell adhesion and signaling. Mutations in B3GALNT1 can lead to muscular dystrophy-dystroglycanopathy, a group of disorders affecting muscle function.
CHD6 (Chromodomain Helicase DNA Binding Protein 6): CHD6 is a member of the chromodomain helicase DNA-binding family, involved in chromatin remodeling. It plays a role in regulating gene expression and maintaining genomic integrity. Dysfunctions in CHD6 can affect cellular development and differentiation, and have been linked to various cancers.
CTBP2 (C-Terminal Binding Protein 2): CTBP2 functions as a transcriptional co-repressor and is involved in the regulation of gene expression. It has roles in developmental processes and is implicated in the regulation of pathways related to cancer progression, particularly in its ability to modulate the expression of tumor suppressor genes and oncogenes.
DUSP15 (Dual Specificity Phosphatase 15): DUSP15 is a member of the dual-specificity protein phosphatases, regulating aspects of cell signaling by dephosphorylating target substrates. It's involved in the modulation of pathways that control cell growth and differentiation. The specific physiological and pathological roles of DUSP15 are yet to be fully elucidated.
FOXJ2 (Forkhead Box J2): FOXJ2 is a transcription factor belonging to the forkhead box family, known for their roles in regulating gene expression related to growth, proliferation, and differentiation. FOXJ2 is implicated in various biological processes, and dysregulation can impact developmental pathways and may be associated with disease states.
HHEX (Hematopoietically Expressed Homeobox): HHEX is a transcription factor important in embryonic development and hematopoiesis. It's involved in the development of the liver, thyroid, and pancreas, and plays a role in the differentiation of blood cells. Abnormal expression of HHEX is associated with cancers, particularly leukemia, and developmental disorders.
IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor part of the Iroquois homeobox gene family, playing a significant role in embryonic development. It's involved in the patterning and morphogenesis of various tissues, including the heart and neural tissues. Dysregulation of IRX2 has been implicated in developmental disorders and potentially in cancer.
LAMP3 (Lysosomal Associated Membrane Protein 3): LAMP3 is involved in lysosomal function and cell signaling. It's important in the immune response, particularly in antigen presentation. Elevated levels of LAMP3 have been observed in various types of cancers, suggesting a role in tumor progression and metastasis.
MRPS18C (Mitochondrial Ribosomal Protein S18C): MRPS18C is part of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It's important for the production of proteins that are part of the mitochondrial respiratory chain. Dysfunctions in MRPS18C can affect mitochondrial function and energy metabolism, potentially leading to mitochondrial disorders.
OPCML (Opioid Binding Protein/Cell Adhesion Molecule Like): OPCML is a glycosylphosphatidylinositol-anchored protein involved in cell adhesion and signaling. It has been identified as a tumor suppressor, with its expression frequently downregulated in various cancers, suggesting a protective role against tumor development and progression.
OTOP1 (Otopetrin 1): OTOP1 is involved in the function of vestibular systems and is essential for maintaining body balance and spatial orientation. It's implicated in the formation of otoconia, tiny calcium carbonate crystals in the inner ear that are critical for detecting gravity and linear acceleration.
PRR16 (Proline Rich 16): PRR16 is a less characterized protein, potentially involved in cellular processes due to its proline-rich domain. These domains are often implicated in protein-protein interactions, suggesting a role in cellular signaling or structural functions.
TEK (TEK Receptor Tyrosine Kinase): TEK, also known as TIE2, is a receptor tyrosine kinase expressed predominantly in endothelial cells. It plays a crucial role in angiogenesis and the maintenance of blood vessel integrity. TEK signaling is essential for vascular development and has been implicated in various vascular diseases, including venous malformations and angiosarcomas. Its role in angiogenesis also makes it a target for cancer therapy, particularly in tumors where new blood vessel formation is a key factor in growth and metastasis.
WDFY2 (WD Repeat and FYVE Domain Containing 2): WDFY2 is a protein involved in endosomal sorting and trafficking. It contains both WD repeats and an FYVE domain, suggesting a role in vesicle-mediated transport processes and potentially in signaling pathways involving membrane dynamics. The specific functions of WDFY2 in cellular processes and its implications in human health and disease are still under investigation.
ZNF799 (Zinc Finger Protein 799): ZNF799 is part of the zinc finger protein family, known for their roles in DNA binding and transcriptional regulation. Although the specific functions of ZNF799 are not well established, its zinc finger motifs suggest it may be involved in the regulation of gene expression, possibly impacting various cellular processes and potentially playing a role in developmental or disease mechanisms.
Attention
ANAPC4AXIN2BLOC1S2COMTCNTLNDLC1ESDEXOC1LHERC2HTR2CNRP2OR5H14PFKPSLC6A2TNRTPH2ZNF584
ANAPC4 (Anaphase Promoting Complex Subunit 4): ANAPC4 is a component of the anaphase-promoting complex/cyclosome (APC/C), a key regulator of the cell cycle. It is involved in marking proteins for degradation, thus controlling the progression of cells through the cell cycle. Dysregulation of ANAPC4 can lead to cell cycle abnormalities, with potential implications for cancer development and progression.
AXIN2 (Axin 2): AXIN2 is a crucial component of the Wnt signaling pathway, which is involved in cell proliferation, differentiation, and embryonic development. AXIN2 acts as a negative regulator of Wnt signaling, and mutations in this gene are associated with various cancers and developmental disorders, including colorectal cancer and tooth agenesis.
BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2): BLOC1S2 is part of a protein complex involved in the biogenesis of lysosome-related organelles, such as melanosomes and platelet dense granules. Dysfunctions in BLOC1S2 can affect organelle formation and function, potentially leading to disorders related to pigmentation or blood clotting.
COMT (Catechol-O-Methyltransferase): COMT is an enzyme that plays a key role in the metabolism of catecholamines, such as dopamine, epinephrine, and norepinephrine. It is important in the regulation of neurotransmitters in the brain and is implicated in psychiatric disorders, including schizophrenia. COMT is also involved in the pain response and has been studied in relation to pain sensitivity and various psychiatric conditions.
CNTLN (Centlein): CNTLN is involved in centrosome function, crucial for proper cell division. It plays a role in maintaining centrosome integrity and spindle assembly during mitosis. Dysfunctions in CNTLN can lead to chromosomal instability, a hallmark of cancer cells, and are of interest in the study of tumor development and progression.
DLC1 (Deleted in Liver Cancer 1): DLC1 functions as a tumor suppressor gene and is often inactivated in various types of cancer. It encodes a Rho GTPase-activating protein, involved in regulating cell shape, motility, and proliferation. Restoration of DLC1 function has been explored as a therapeutic approach in cancer treatment.
ESD (Esterase D): ESD is an enzyme involved in the hydrolysis of esters and is considered a marker for certain types of cancer, including retinoblastoma. Its role in cellular metabolism and detoxification processes makes it relevant in the study of metabolic pathways and in the diagnosis and monitoring of cancer.
EXOC1L (Exocyst Complex Component 1 Like): EXOC1L is a less characterized component of the exocyst complex, which is involved in vesicle trafficking and exocytosis. It may play a role in the targeted delivery of vesicles to the plasma membrane, impacting processes such as cell signaling, membrane expansion, and secretion.
HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2): HERC2 is an E3 ubiquitin-protein ligase, playing a key role in the ubiquitin-proteasome system, which regulates protein degradation. HERC2 is involved in various cellular processes, including DNA repair and the regulation of pigment production, particularly in eye color determination. Mutations or alterations in HERC2 are associated with neurodevelopmental disorders and pigmentary anomalies.
HTR2C (5-Hydroxytryptamine Receptor 2C): HTR2C is a serotonin receptor subtype implicated in the regulation of mood, appetite, and sexual behavior. It plays a role in various CNS functions and is a target for certain psychiatric medications. Dysfunctions or genetic variations in HTR2C have been linked to psychiatric conditions, including depression, anxiety, and schizophrenia, as well as to metabolic disorders.
NRP2 (Neuropilin 2): NRP2 is a receptor involved in angiogenesis and lymphangiogenesis, as well as in neuronal guidance. It binds to vascular endothelial growth factors and semaphorins, influencing blood vessel and nerve development. NRP2 has implications in cancer progression, particularly in tumor angiogenesis and metastasis, and in developmental processes.
OR5H14 (Olfactory Receptor Family 5 Subfamily H Member 14): OR5H14 is part of the olfactory receptor gene family, which is responsible for the sense of smell. These receptors detect and bind specific odor molecules. The specific ligands and functional role of OR5H14 in olfaction are not fully understood, but it contributes to the complex and diverse nature of smell perception.
PFKP (Phosphofructokinase, Platelet): PFKP is a key enzyme in the glycolytic pathway, controlling the rate of glucose metabolism. It catalyzes the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Dysregulation of PFKP can affect energy metabolism in cells and has been studied in the context of cancer, where altered glucose metabolism is a common feature.
SLC6A2 (Solute Carrier Family 6 Member 2): SLC6A2, also known as the norepinephrine transporter, is responsible for the reuptake of norepinephrine into presynaptic nerve terminals. It is a target for certain antidepressants and plays a role in regulating mood and alertness. Dysfunctions in SLC6A2 are implicated in psychiatric and neurological disorders, including depression and attention deficit hyperactivity disorder (ADHD).
TNR (Tenascin R): TNR is an extracellular matrix protein predominantly found in the central nervous system. It is involved in neural development, particularly in synaptic plasticity and neuronal differentiation. TNR plays a role in the formation of neural networks and has been studied in the context of neurodevelopmental and neurodegenerative disorders.
TPH2 (Tryptophan Hydroxylase 2): TPH2 is an enzyme critical in the synthesis of serotonin, a neurotransmitter involved in regulating mood, sleep, and appetite. TPH2 is primarily found in the brain and is essential for brain serotonin production. Genetic variations in TPH2 have been linked to psychiatric disorders, including depression and bipolar disorder.
ZNF584 (Zinc Finger Protein 584): ZNF584 is part of the zinc finger protein family, typically involved in DNA binding and gene regulation. While the specific functions of ZNF584 are not fully established, it may play a role in transcriptional regulation, impacting various cellular processes and potentially influencing developmental pathways or disease mechanisms.
Dyslexia
BCL11BCCDC171C1ORF87FHITGNAQGSDMBKAT2BLRRC37AMITFNRXN1PCCBPOM121SGCDSMARCA2UNC119B
BCL11B (B-Cell CLL/Lymphoma 11B): BCL11B is a transcription factor that plays a critical role in the development and differentiation of T-cells. It is also involved in neuronal development. Mutations or dysregulation in BCL11B have been linked to various types of hematological malignancies, including T-cell acute lymphoblastic leukemia, and to neurodevelopmental disorders.
CCDC171 (Coiled-Coil Domain Containing 171): CCDC171 is a gene characterized by its coiled-coil domain, suggesting a role in protein-protein interactions. Its specific function is not well understood, but genes with similar domains are often involved in various cellular structures and processes, including vesicle transport, cell division, and signal transduction.
C1ORF87 (Chromosome 1 Open Reading Frame 87): C1ORF87 is a lesser-characterized gene, and its function in human biology is not fully established. Genes identified as "open reading frames" (ORFs) are often subjects of ongoing research to determine their roles in cellular processes and their potential implications in health and disease.
FHIT (Fragile Histidine Triad Diadenosine Triphosphatase): FHIT is a tumor suppressor gene involved in purine metabolism. Loss or alteration of this gene has been linked to a variety of cancers, indicating its role in tumor suppression.
GNAQ (G Protein Subunit Alpha Q): GNAQ is a subunit of G proteins, which play a crucial role in transmitting signals from the cell surface to its interior. Mutations in GNAQ have been implicated in several types of tumors, including uveal melanoma, and in Sturge-Weber syndrome, a neurological and skin disorder.
GSDMB (Gasdermin B): GSDMB is part of the gasdermin family, which is involved in the regulation of cell death and inflammation. It has been associated with susceptibility to asthma and autoimmune diseases. GSDMB's role in inflammatory responses makes it a potential target for therapeutic interventions in these conditions.
KAT2B (Lysine Acetyltransferase 2B): KAT2B, also known as PCAF, is involved in histone acetylation, a key process in regulating gene expression. It plays a role in various cellular processes, including DNA repair, cell cycle progression, and apoptosis. KAT2B is implicated in the regulation of transcription and chromatin remodeling, with relevance to cancer and developmental disorders.
LRRC37A (Leucine Rich Repeat Containing 37A): LRRC37A is part of a complex genomic region and is involved in brain development. It has been linked to neurodevelopmental disorders, including autism spectrum disorder, although its exact role and mechanism in these conditions are still being researched.
MITF (Melanocyte Inducing Transcription Factor): MITF is crucial for the development and function of melanocytes, cells responsible for pigment production. Mutations in MITF can lead to pigmentary disorders and increase the risk of melanoma, a type of skin cancer. MITF also plays a role in the development of certain types of retinal cells and has been implicated in Waardenburg syndrome.
NRXN1 (Neurexin 1): NRXN1 is a neuronal cell adhesion molecule involved in synapse formation and function. It plays a significant role in neural communication and has been linked to a variety of neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and intellectual disability.
PCCB (Propionyl-CoA Carboxylase Beta Chain): PCCB is an enzyme involved in the metabolism of certain amino acids, fatty acids, and cholesterol. Mutations in PCCB can lead to propionic acidemia, a rare metabolic disorder characterized by the accumulation of toxic substances in the body, leading to various neurological and systemic symptoms.
POM121 (POM121 Membrane Glycoprotein): POM121 is a component of the nuclear pore complex, which regulates the transport of molecules between the nucleus and the cytoplasm. It plays a role in nuclear envelope formation and cell cycle progression. Dysfunctions in POM121 can impact nuclear-cytoplasmic transport and cellular homeostasis.
SGCD (Sarcoglycan Delta): SGCD is part of the dystrophin-glycoprotein complex, crucial for muscle integrity and function. Mutations in SGCD are associated with limb-girdle muscular dystrophy, a group of genetic disorders that weaken and waste the muscles around the hips and shoulders.
SMARCA2 (SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 2): SMARCA2 is a core component of the SWI/SNF chromatin remodeling complex, playing a pivotal role in regulating gene expression by altering chromatin structure. Mutations in SMARCA2 are associated with disorders like Nicolaides-Baraitser syndrome, characterized by intellectual disability and sparse hair. Its function is critical for proper gene regulation and development.
UNC119B (UNC-119 Homolog B): UNC119B is involved in the trafficking of proteins to cilia, cellular structures important in signaling pathways and sensory functions. It plays a role in the development and function of photoreceptor cells in the retina. Dysfunctions in UNC119B can impact ciliary function, potentially leading to retinal diseases and impairing vision.
Brain Fog
ACTL7BADAMTS16CCDC138CNOT2CNTN2EXOC5MROMRPS9OOSP1PKD2L2PSG9PSD3RAB1A
ACTL7B (Actin-Like 7B): ACTL7B is a member of the actin family, which are key components of the cytoskeleton in cells. Actins are involved in various cellular functions, including maintaining cell shape, motility, and division. The specific role of ACTL7B in these processes is not fully understood, but it may have implications in cell structure and function, particularly in reproductive cells.
ADAMTS16 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 16): ADAMTS16 is an enzyme involved in the cleavage of extracellular matrix components. It plays a role in tissue remodeling and development. Dysregulation of ADAMTS16 has been associated with various conditions, including kidney and cardiovascular diseases, and it may have implications in fertility.
CCDC138 (Coiled-Coil Domain Containing 138): CCDC138 is a less characterized protein, potentially involved in cellular structure due to its coiled-coil domain. Such domains are often implicated in protein-protein interactions and cytoskeletal organization. Further research is required to elucidate its precise role in cellular processes and its implications in health and disease.
CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is part of the CCR4-NOT complex, which plays a significant role in regulating gene expression, including mRNA turnover and degradation. It's involved in various aspects of RNA metabolism and can influence cellular processes like development, differentiation, and response to stress.
CNTN2 (Contactin 2): CNTN2, also known as TAG-1, is a neuronal cell adhesion molecule involved in the development and function of the nervous system. It plays a role in the formation of neural circuits and synaptic connections. Mutations in CNTN2 have been linked to neurodevelopmental disorders and may influence neurological functions like learning and memory.
EXOC5 (Exocyst Complex Component 5): EXOC5 is a component of the exocyst, a complex involved in vesicle trafficking. It is essential for the targeted delivery of vesicles to specific locations on the plasma membrane, a process important for cellular communication, secretion, and membrane growth.
MRO (Maestro Heat-Like Repeat Family Member): MRO is a protein with a maestro heat-like repeat, suggesting a role in heat shock response or in the cellular response to stress. The specific functions of MRO in human physiology and its involvement in disease processes are not fully understood and represent an area for further research.
MRPS9 (Mitochondrial Ribosomal Protein S9): MRPS9 is part of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a critical role in the production of proteins necessary for mitochondrial function and energy production. Dysfunctions in MRPS9 can impact mitochondrial efficiency and are potentially linked to mitochondrial disorders, affecting cellular energy metabolism.
OOSP1 (Oocyte Secreted Protein 1): OOSP1 is predominantly expressed in oocytes and is involved in early embryonic development. It may play a role in the maturation of oocytes and in the regulation of processes during fertilization and early embryogenesis. Its function is crucial for reproductive health and successful embryonic development.
PKD2L2 (Polycystic Kidney Disease 2-Like 2): PKD2L2 is a member of the polycystin protein family, associated with calcium channel and signaling functions. While it shares homology with proteins implicated in polycystic kidney disease, its specific role in renal physiology or disease is less clear. PKD2L2 may have broader implications in cellular signaling and calcium homeostasis.
PSG9 (Pregnancy-Specific Glycoprotein 9): PSG9 belongs to the pregnancy-specific glycoprotein family, which plays roles in immune regulation during pregnancy. These proteins are thought to contribute to the maternal tolerance of the fetus and may be involved in fetal development. The specific function of PSG9 in this process and its impact on reproductive health and pregnancy outcomes are areas of ongoing research.
PSD3 (Pleckstrin And Sec7 Domain Containing 3): PSD3 is involved in intracellular trafficking and signaling. It contains a Sec7 domain, which is typically associated with guanine nucleotide exchange factors that activate ARF GTPases, important for vesicle formation and trafficking. Dysfunctions in PSD3 could affect cellular communication and transport processes.
RAB1A (RAB1A, Member RAS Oncogene Family): RAB1A is part of the RAB family of small GTPases, which regulate various aspects of vesicle trafficking. RAB1A is specifically involved in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Its role is crucial for maintaining efficient protein transport and processing within the cell.
Memory Performance
GNL3ITIH1NT5DC2PBRM1
GNL3 (Guanine Nucleotide Binding Protein-Like 3): GNL3, also known as nucleostemin, is involved in cell proliferation and stem cell maintenance. It is notable for its role in the regulation of the cell cycle in stem cells and cancer cells. GNL3 has been studied in the context of its potential roles in tumorigenesis and cellular aging.
ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is part of a family of proteins involved in the stabilization of the extracellular matrix and in inflammation. It plays a role in tissue remodeling and repair, and dysregulation of ITIH1 has been implicated in various inflammatory conditions and potentially in cancer.
NT5DC2 (5'-Nucleotidase Domain Containing 2): NT5DC2 is an enzyme that may be involved in nucleotide metabolism, although its specific biological functions are not fully characterized. Enzymes in this family generally play roles in purine and pyrimidine metabolism, which are crucial for DNA and RNA synthesis, signaling, and energy transfer in cells.
PBRM1 (Polybromo 1): PBRM1 is a subunit of the SWI/SNF chromatin remodeling complex and plays a role in regulating gene expression by altering chromatin structure. It is a tumor suppressor gene, with mutations in PBRM1 being implicated in various cancers, particularly clear cell renal cell carcinoma. Its function in chromatin remodeling is crucial for maintaining genomic integrity and normal cell function.
Processing Speed
ACP1ATP5PDDCDC2HNF4GIRX6JAG1KRTAP7-1MYRIPNSG2NRSN1PKNOX1PRB2SHLD1SPATA7TBX20TMEM245TRIB3TTYH2
ACP1 (Acid Phosphatase 1, Soluble): ACP1 encodes an enzyme that functions in various cellular processes, including signal transduction and energy metabolism. It has several isoforms with different roles, potentially influencing immune responses and cellular signaling pathways. Variants of ACP1 have been linked to susceptibility to certain autoimmune diseases and metabolic conditions.
ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT): ATP5PD is a component of the mitochondrial ATP synthase, playing a role in cellular energy production. It is involved in the synthesis of ATP, the primary energy carrier in cells, and is crucial for maintaining mitochondrial function and overall cellular metabolism.
DCDC2 (Doublecortin Domain Containing 2): DCDC2 is associated with neuronal migration and differentiation, particularly in the developing brain. It has been implicated in dyslexia and other learning disabilities, suggesting its role in cognitive processing and language development.
HNF4G (Hepatocyte Nuclear Factor 4 Gamma): HNF4G is a transcription factor involved in liver development and function. It regulates genes associated with glucose and lipid metabolism and plays a role in the development of the pancreas and kidneys. Dysregulation of HNF4G can impact metabolic processes and has been studied in relation to diabetes and liver diseases.
IRX6 (Iroquois Homeobox 6): IRX6 is part of the Iroquois homeobox gene family, which plays a crucial role in early development. As a transcription factor, it's involved in the patterning and morphogenesis of various organs and tissues, particularly in the heart and oral-facial regions. Disruptions in IRX6 can lead to developmental anomalies, and it is a gene of interest in studies of congenital disorders and craniofacial development.
JAG1 (Jagged 1): JAG1 is a key ligand in the Notch signaling pathway, involved in cell fate determination and tissue development. Mutations in JAG1 can lead to Alagille syndrome, a disorder affecting the liver, heart, and other organs. Its role in Notch signaling also implicates JAG1 in diverse processes, including vascular development, hematopoiesis, and cancer progression.
KRTAP7-1 (Keratin Associated Protein 7-1): KRTAP7-1 is a member of the keratin-associated proteins family, contributing to the structure and properties of hair fibers. It plays a role in determining hair texture and strength. Variations in KRTAP7-1 and other keratin-associated proteins can affect hair characteristics and are relevant in the study of hair and scalp disorders.
MYRIP (Myosin VIIA And Rab Interacting Protein): MYRIP is involved in the transport and localization of melanosomes in pigment cells and synaptic vesicles in neuronal cells. It facilitates the linkage between actin-based myosin VIIA and Rab proteins, crucial in vesicle trafficking. This function is important for processes such as pigmentation and synaptic transmission.
NSG2 (Neuron Specific Gene Family Member 2): NSG2, primarily expressed in the brain, may play a role in neuronal development and function. Its specific functions in neural processes are not fully understood, but it may contribute to synaptic plasticity and neuronal signaling, impacting cognitive and sensory processes.
NRSN1 (Neurensin 1): NRSN1 is a neuronal protein that may be involved in synaptic function and plasticity. While its exact role in the brain is not fully characterized, it is thought to contribute to the regulation of neurotransmitter release and neuronal signaling, with implications for learning and memory.
PKNOX1 (PBX/Knotted 1 Homeobox 1): PKNOX1 is a transcription factor involved in developmental processes and cellular differentiation. It regulates gene expression during embryogenesis and may be involved in hematopoietic cell development. Dysregulation of PKNOX1 can have implications in developmental abnormalities.
PRB2 (Proline-Rich Protein BstNI Subfamily 2): PRB2 is involved in oral and salivary biology, playing a role in the formation of the dental pellicle and oral mucosal defense. It is part of the proline-rich protein family, which is important for maintaining oral health and protecting against dental caries and other oral diseases.
SHLD1 (Shieldin Complex Subunit 1): SHLD1 is a component of the shieldin complex, which plays a key role in DNA repair. It is involved in the repair of double-strand breaks, particularly in non-homologous end joining, a crucial process for maintaining genomic stability and preventing mutagenesis.
SPATA7 (Spermatogenesis Associated 7): SPATA7 is important in eye and reproductive system development. Mutations in SPATA7 are linked to Leber congenital amaurosis and retinitis pigmentosa, both of which are retinal degenerative diseases leading to vision loss.
TBX20 (T-Box 20): TBX20 is a transcription factor involved in heart development and function. It plays a critical role in cardiac cell differentiation and heart morphogenesis. Mutations in TBX20 are associated with congenital heart defects and cardiomyopathies.
TMEM245 (Transmembrane Protein 245): TMEM245 is a transmembrane protein with currently unclear functions. It may be involved in cellular processes associated with membrane dynamics or intracellular trafficking, but its specific role in cellular physiology and potential involvement in disease states require further investigation.
TRIB3 (Tribbles Pseudokinase 3): TRIB3 is involved in various cellular processes, including stress response, cell proliferation, and metabolism. It acts as a modulator of signaling pathways and has been implicated in the development of conditions such as insulin resistance, cancer, and cardiovascular diseases.
TTYH2 (Tweety Family Member 2): TTYH2 is a gene that belongs to the Tweety family of proteins. While the exact functions of TTYH2 are not fully elucidated, it is known to encode a protein with ion channel activity. The Tweety family of proteins has been associated with ion transport across cell membranes, particularly involving chloride ions. These ion channels are thought to play a role in cellular homeostasis and may be involved in processes such as regulation of cell volume and ion balance. Further research is needed to fully understand the specific functions and significance of TTYH2 in cellular physiology and potential implications in health and disease.
Executive Function
ADARB2ARL4AADRA1ABARHL2BIN1CRYBB2DPPA2EGFLAMELFN2GSDMBHUNKIGFBP3IKZF1LRRTM4METTL11BNUAK1PLEKHG1
ADARB2 (Adenosine Deaminase RNA-Specific B2): ADARB2 is an enzyme that belongs to the adenosine deaminase family and is involved in RNA editing. It specifically deaminates adenosine to inosine in RNA molecules, leading to alterations in RNA sequences. This post-transcriptional modification can impact the structure and function of RNA, potentially influencing various cellular processes and gene expression regulation.
ARL4A (ADP-Ribosylation Factor-Like 4A): ARL4A is a member of the ADP-ribosylation factor (ARF) family of small GTPases. It participates in intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in the regulation of membrane remodeling processes, including vesicle formation and membrane fusion events.
ADRA1A (Adrenoceptor Alpha 1A): ADRA1A is a subtype of the alpha-1-adrenergic receptors, involved in the physiological responses to adrenaline and noradrenaline, particularly in smooth muscle contraction. It plays a role in cardiovascular function, including blood pressure regulation and vascular tone. Abnormalities in ADRA1A can have implications in cardiovascular diseases and disorders of the autonomic nervous system.
BARHL2 (BarH-Like Homeobox 2): BARHL2 is a homeobox transcription factor that plays a crucial role in neural development. It is involved in the differentiation and specification of specific neuronal cell types during embryonic development, contributing to the formation of a functional nervous system.
BIN1 (Bridging Integrator 1): BIN1 is a protein that is essential for cellular membrane dynamics. It is involved in processes such as endocytosis and membrane curvature. BIN1 acts as a bridging factor and plays a critical role in facilitating membrane invaginations called tubules, which are essential for various cellular functions.
CRYBB2 (Crystallin Beta-B2): CRYBB2 is a member of the crystallin family and is predominantly expressed in the lens of the eye. It contributes to the maintenance of lens transparency and refractive properties. CRYBB2 plays a crucial role in the structural integrity of the lens and is vital for proper vision.
DPPA2 (Developmental Pluripotency-Associated 2): DPPA2 is a gene associated with pluripotency and is involved in the regulation of embryonic stem cell identity. It plays a role in maintaining the undifferentiated state of embryonic stem cells and is part of the molecular machinery that controls pluripotency-associated gene expression.
EGFLAM (EGF-Like, Fibronectin Type III and Laminin G Domain Containing): EGFLAM is a gene that encodes a protein containing domains found in extracellular matrix proteins. While its exact functions are still being elucidated, the presence of EGF-like, fibronectin type III, and laminin G domains suggests potential roles in cell adhesion, signaling, and tissue development. Further research is needed to fully understand its specific functions and significance.
ELFN2 (Extracellular Leucine-Rich Repeat and Fibronectin Type III Domain Containing 2): ELFN2 is a gene that encodes a protein with leucine-rich repeat and fibronectin type III domains. These domains suggest its involvement in cell adhesion, signaling, and interactions with the extracellular matrix. ELFN2's functions in neural development and synaptic plasticity are of particular interest, as it may play a role in modulating neuronal connections in the brain.
GSDMB (Gasdermin B): GSDMB is part of the gasdermin family, which is involved in the regulation of cell death and inflammation. It has been associated with susceptibility to asthma and autoimmune diseases. GSDMB's role in inflammatory responses makes it a potential target for therapeutic interventions in these conditions.
HUNK (Hormonally Up-Regulated Neu-Associated Kinase): HUNK is a gene that encodes a protein kinase regulated by hormones. Studies have linked HUNK to breast cancer, where its overexpression appears to promote tumor growth and metastasis. HUNK's role in intracellular signaling pathways, especially those influenced by hormones like estrogen, underscores its significance in cancer biology and its potential as a therapeutic target.
IGFBP3 (Insulin-Like Growth Factor Binding Protein 3): IGFBP3 encodes a protein that binds to insulin-like growth factors (IGFs), regulating their bioavailability. This regulation has a profound impact on cell growth, development, and metabolism. IGFBP3 is of particular interest in cancer research, as it can either inhibit or enhance the actions of IGFs, depending on cellular contexts, making it a key player in tumorigenesis and therapeutic strategies.
IKZF1 (IKAROS Family Zinc Finger 1): IKZF1 encodes a zinc finger transcription factor crucial for immune cell development and differentiation, particularly in B cells. It is frequently mutated in B-cell acute lymphoblastic leukemia (B-ALL), highlighting its pivotal role in hematopoiesis and immune system function. IKZF1's interactions with various genes and its role in maintaining immune homeostasis make it a subject of intense investigation in immunology and oncology.
LRRTM4 (Leucine-Rich Repeat Transmembrane Neuronal 4): LRRTM4 encodes a transmembrane protein primarily found in neurons. Research suggests that LRRTM4 plays a significant role in synaptic transmission and synaptic adhesion. Its presence at synapses and its interactions with other synaptic proteins underline its importance in neural circuitry, neuronal connectivity, and potentially neurodevelopmental disorders.
METTL11B (Methyltransferase-Like Protein 11B): METTL11B is a gene encoding a protein with a methyltransferase-like domain. While its specific functions are not fully characterized, its domain suggests a potential role in epigenetic regulation, RNA modification, or protein methylation. Ongoing research aims to elucidate its precise role in cellular processes and its implications for health and disease.
NUAK1 (NUAK Family SnF1-Like Kinase 1): NUAK1 encodes a protein kinase with diverse cellular functions, including cell cycle regulation and energy metabolism. Its involvement in cellular processes related to cell growth, migration, and survival makes it a multifaceted player in cell biology. Further exploration of NUAK1's functions may provide insights into cancer progression and metabolic disorders.
PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 encodes a protein containing pleckstrin homology and RhoGEF domains, implying its participation in signaling pathways associated with cell morphology, cytoskeletal organization, and cellular migration. While its exact functions are still under investigation, the presence of these domains suggests a role in regulating cellular processes related to cytoskeletal dynamics and cellular motility.
Stress
CDH12CHRM3DPYSL5HLA-DPB1LMCD1MPPED1MROH2AOXTRPDCD6IPRASGEF1BRBM17SMARCA2SPG7STAC
CDH12 (Cadherin 12): CDH12 belongs to the cadherin superfamily, involved in cell-cell adhesion. It's expressed in the nervous system and plays a role in neural development and connectivity. CDH12 has been implicated in neurodevelopmental disorders due to its role in brain structure and function.
CHRM3 (Cholinergic Receptor Muscarinic 3): CHRM3 is a receptor for acetylcholine, involved in various physiological functions, including smooth muscle contraction and glandular secretion. Dysregulation of CHRM3 is implicated in disorders like asthma and overactive bladder syndrome.
DPYSL5 (Dihydropyrimidinase Like 5): DPYSL5 is part of a family of proteins involved in neurodevelopment, particularly in axonal growth and guidance. It's implicated in neuronal repair processes and has been studied in the context of neurodegenerative diseases.
HLA-DPB1 (Major Histocompatibility Complex, Class II, DP Beta 1): HLA-DPB1 is part of the HLA complex, crucial for the immune system's ability to recognize and respond to foreign substances. It's involved in antigen presentation and is important in autoimmune diseases and transplant compatibility.
LMCD1 (LIM and Cysteine-Rich Domains 1): LMCD1 is a gene that encodes a protein involved in cardiac development and function. It plays a significant role in the regulation of gene expression in cardiac muscle cells, influencing heart muscle development and maintenance. Alterations or dysfunctions in LMCD1 have potential implications in cardiovascular diseases, as it may affect heart structure and performance. Its role in cardiomyocytes highlights its importance in understanding cardiac disorders and potential therapeutic targets for heart diseases.
MPPED1 (Metallophosphoesterase Domain Containing 1): MPPED1, while not fully characterized, is believed to be part of the metallophosphoesterase family, suggesting a role in phosphatase activities and metal ion homeostasis. Its expression in the brain indicates potential involvement in neural development and function. The study of MPPED1 may provide insights into neurological processes and disorders, particularly those involving metal ion regulation and phosphatase activities.
MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A belongs to a family of proteins characterized by maestro heat-like repeats, which are thought to be involved in lipid metabolic processes. The exact physiological and pathological roles of MROH2A are not well understood, but it may play a role in cellular lipid metabolism, with potential implications for metabolic disorders. Understanding the function of MROH2A could contribute to insights into metabolic regulation and disease mechanisms related to lipid metabolism.
OXTR (Oxytocin Receptor): OXTR is the receptor for oxytocin, a hormone involved in social bonding, sexual reproduction, childbirth, and maternal behaviors. It's significant for behaviors associated with bonding and trust, and dysregulation is implicated in conditions like autism and social anxiety disorders.
PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP, also known as ALIX, is involved in a range of cellular processes, including endocytosis, membrane repair, and cell death pathways. It plays a crucial role in the formation of multivesicular bodies and in the budding of enveloped viruses, like HIV. Dysfunctions in PDCD6IP are linked to neurodegenerative diseases and cancer due to its role in autophagy and apoptosis, highlighting its importance in cellular homeostasis and response to cellular stress.
RASGEF1B (RAS Guanine Nucleotide Exchange Factor 1B): RASGEF1B is a guanine nucleotide exchange factor that activates Ras, a family of proteins involved in transmitting signals within cells. It's believed to play a role in neural development and function. RASGEF1B might influence cellular processes like cell growth and differentiation, and its dysregulation could be implicated in developmental disorders and possibly in cancer progression.
RBM17 (RNA Binding Motif Protein 17): RBM17 is involved in RNA splicing, a critical process in gene expression. It plays a role in the regulation of alternative splicing, influencing the diversity of proteins that can be produced from a single gene. Alterations in RBM17 have potential implications in various diseases, including cancer, where dysregulation of splicing can affect cell growth and survival.
SMARCA2 (SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 2): SMARCA2 is a core component of the SWI/SNF chromatin remodeling complex, playing a pivotal role in regulating gene expression by altering chromatin structure. Mutations in SMARCA2 are associated with disorders like Nicolaides-Baraitser syndrome, characterized by intellectual disability and sparse hair. Its function is critical for proper gene regulation and development.
SPG7 (Spastic Paraplegia 7, Paraplegin): SPG7 is a mitochondrial protein that plays a role in the maintenance and function of mitochondria, particularly in the ATPase assembly. Mutations in SPG7 are a common cause of hereditary spastic paraplegia, a neurodegenerative disorder characterized by progressive stiffness and weakness of the lower limbs, reflecting its importance in neural and mitochondrial function.
STAC (SH3 and Cysteine-Rich Domain): STAC, specifically STAC3 in humans, is a protein that plays a significant role in muscle contraction and function. It is involved in the excitation-contraction coupling of skeletal muscles. Mutations in the STAC3 gene are known to cause Native American myopathy, a rare congenital disorder characterized by muscle weakness, skeletal abnormalities, and susceptibility to malignant hyperthermia. The study of STAC3 is crucial for understanding muscle physiology and related disorders.
Mood Swings
ASCC3ASTN2ATP5MKEFNA5EIF3MENOX1LRFN5MYH15NR4A2POU5F2SCAMP1SOX6SPPL3TEF
MICB (MHC Class I Polypeptide-Related Sequence B): MICB plays a significant role in the immune system, acting as a stress-induced ligand for the NKG2D receptor found on natural killer cells and certain T cells. It's involved in the immune surveillance against infected or transformed cells. Elevated expression of MICB can be triggered by cellular stress, such as viral infection or tumorigenesis, signaling immune cells to target and destroy the affected cells.
ASTN2 (Astrotactin 2): ASTN2 is a neural adhesion protein involved in neuronal migration in the developing brain. It's crucial for the proper formation of neural networks and brain structure. Genetic variations in ASTN2 have been linked to neurological disorders, including autism spectrum disorders and attention deficit hyperactivity disorder (ADHD).
ATP5MK (ATP Synthase Membrane Subunit K): ATP5MK is part of the mitochondrial ATP synthase complex, which is crucial for ATP production in cellular respiration. It plays a role in the energy metabolism of cells, and dysfunctions in ATP5MK can affect cellular energy levels, potentially contributing to metabolic disorders.
EFNA5 (Ephrin A5): EFNA5 belongs to the ephrin family and acts as a ligand for Eph receptors, which are involved in various developmental processes, including axon guidance, angiogenesis, and tissue patterning. Dysregulation of EFNA5 signaling can contribute to aberrant development and has been studied in the context of cancer progression.
EIF3M (Eukaryotic Translation Initiation Factor 3 Subunit M): EIF3M is a component of the eukaryotic translation initiation factor 3 (eIF3) complex, which is essential for protein synthesis. It plays a role in the initiation phase of translation and is important for overall protein production in cells. Alterations in EIF3M can impact cellular growth and proliferation.
ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1): ENOX1 is involved in the transfer of electrons across the cell membrane and may play a role in cellular redox homeostasis. Its function is associated with cell growth regulation and the aging process, although its specific role in human physiology and pathology is not fully understood.
LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN family of proteins, involved in neuronal development and synaptic function. It may play a role in the formation and maintenance of neural circuits, and dysfunctions in LRFN5 are potential contributors to neurodevelopmental disorders.
MYH15 (Myosin Heavy Chain 15): MYH15 encodes a myosin heavy chain protein, predominantly found in skeletal muscle. Myosins are motor proteins involved in muscle contraction and cellular motility. The specific role and significance of MYH15 in muscle function and development are subjects of ongoing research.
NR4A2 (Nuclear Receptor Subfamily 4 Group A Member 2): NR4A2, also known as Nurr1, is a transcription factor essential for the development and maintenance of dopaminergic neurons in the brain. It's involved in neuroprotection and has been studied in relation to Parkinson's disease and other neurodegenerative disorders.
POU5F2 (POU Class 5 Homeobox 2): POU5F2 is a transcription factor belonging to the POU family, known for their roles in developmental processes and cell type-specific gene expression. The specific functions of POU5F2 are not well characterized but may involve regulation of gene expression in certain developmental or cellular contexts.
SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is involved in membrane trafficking processes, particularly in the recycling of membrane proteins and in exocytosis. It plays a crucial role in cellular communication and the transport of substances within cells, which is vital for various cellular functions.
SOX6 (SRY-Box Transcription Factor 6): SOX6 plays a critical role in the development and differentiation of various tissues, including cartilage, muscle, and the central nervous system. It is essential for chondrocyte differentiation and skeletal development, and its expression levels are also crucial in the regulation of neuronal development and differentiation. Dysregulation of SOX6 has been implicated in various disorders, including skeletal malformations and potential impacts on cognitive function, reflecting its diverse roles in developmental processes.
SPPL3 (Signal Peptide Peptidase Like 3): SPPL3 is part of the intramembrane-cleaving protease family, involved in the processing of various transmembrane proteins. It plays a role in cellular signaling and regulation by cleaving the intracellular domains of its substrates, thereby modulating their function. SPPL3 is important in immune system regulation, particularly in the maturation of B cells, and has been implicated in certain autoimmune conditions. Its study is significant for understanding the mechanisms of intramembrane proteolysis and its implications in human health and disease.
TEF (Thyrotrophic Embryonic Factor): TEF is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family. It is involved in circadian rhythm regulation and plays a role in the expression of clock-controlled genes. TEF is important for maintaining the circadian rhythm in physiological processes, including metabolism and hormone secretion. Dysregulation of TEF can impact circadian rhythm-related disorders and metabolic diseases, highlighting its significance in the synchronization of biological processes with the environmental light-dark cycle.
Cannabis Addiction
ACYP2ANO3AP2A2CADM2CSDC2HS3ST4NCAM1NANOS1NR2F2PMM1SDK1SP9SRRTUFMZNF704
ACYP2 (Acylphosphatase 2): ACYP2 encodes an enzyme that hydrolyzes acylphosphates, playing a role in energy metabolism. It's particularly involved in muscle physiology, influencing muscle efficiency and endurance. Genetic variations in ACYP2 have been linked to aging processes and age-related disorders, reflecting its role in cellular energy dynamics and possibly in the regulation of lifespan.
ANO3 (Anoctamin 3): ANO3 encodes a calcium-activated chloride channel, which is significant in smooth muscle function and neurological processes. Mutations in ANO3 are associated with movement disorders, particularly dystonia, a condition characterized by involuntary muscle contractions and spasms, indicating its role in neuromuscular signaling and function.
AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit): AP2A2 is part of the AP-2 adaptor complex, crucial for clathrin-mediated endocytosis. This process is vital for cellular internalization of receptors and other proteins, impacting cell signaling and nutrient uptake. Dysregulation of AP2A2 can affect neuronal development and synaptic function, with potential implications in neurological disorders.
CADM2 (Cell Adhesion Molecule 2): CADM2 plays a role in the central nervous system, particularly in synaptic organization and function. It's involved in cognitive processes like learning and memory. Variants in CADM2 have been associated with neuropsychiatric disorders and addictive behaviors.
CSDC2 (Cold Shock Domain Containing C2): CSDC2 is a protein implicated in RNA binding and regulation of gene expression. It is thought to be involved in cellular responses to environmental stresses, particularly temperature changes. The specific roles of CSDC2 in human health and disease are still being explored.
HS3ST4 (Heparan Sulfate-Glucosamine 3-Sulfotransferase 4): HS3ST4 is involved in the modification of heparan sulfate, a component of the extracellular matrix. This modification is crucial for various biological processes, including cell signaling and blood coagulation. Dysregulation of HS3ST4 may impact cellular interactions and has potential implications in cancer and vascular disorders.
NCAM1 (Neural Cell Adhesion Molecule 1): NCAM1 plays a pivotal role in neural development, particularly in cell-cell adhesion, neurite outgrowth, and synaptic plasticity. It's important for learning and memory and has been studied in the context of neuropsychiatric disorders, including schizophrenia and autism.
NANOS1 (Nanos C2HC-Type Zinc Finger 1): NANOS1 is a post-transcriptional regulator involved in germ cell development. It's essential for the maintenance of germ cell viability and has been studied in relation to infertility and germ cell tumors.
NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2): NR2F2, also known as COUP-TFII, is a transcription factor involved in the development and function of several organs, including the heart and vascular system. It regulates genes involved in angiogenesis (formation of new blood vessels) and metabolic processes. Abnormal NR2F2 function has implications in developmental disorders and various cancers, where it can influence tumor growth and metastasis.
PMM1 (Phosphomannomutase 1): PMM1 is an enzyme in the mannose pathway, critical for glycosylation, a process essential for proper function and stability of many proteins. Mutations in PMM1 can lead to congenital disorders of glycosylation, affecting multiple systems, including neurological and immune functions.
SDK1 (Sidekick Cell Adhesion Molecule 1): SDK1 is involved in cell adhesion and synaptic organization. It plays a role in the formation of neural circuits, particularly in the visual system, and is important for neural connectivity and communication.
SP9 (Sp9 Transcription Factor): SP9 is a transcription factor involved in brain development. It's crucial for the regulation of genes in neural progenitor cells and has been studied in the context of neurodevelopmental processes and disorders.
SRR (Serine Racemase): SRR catalyzes the production of D-serine, a co-agonist of the NMDA receptor, which is critical for neurotransmission and synaptic plasticity in the brain. Alterations in SRR activity can affect glutamatergic signaling and have been linked to neurodegenerative disorders like Alzheimer's disease and psychiatric conditions such as schizophrenia, reflecting its key role in brain function and mental health.
TUFM (Tu Translation Elongation Factor, Mitochondrial): TUFM is essential for mitochondrial protein synthesis, playing a role in the translation process within mitochondria. It's important for mitochondrial function and energy production, with potential implications in mitochondrial disorders and conditions related to impaired energy metabolism.
ZNF704 (Zinc Finger Protein 704): ZNF704 is part of the zinc finger protein family, characterized by their DNA-binding motifs and roles in gene regulation. Its specific functions are not fully characterized but, like other zinc finger proteins, ZNF704 is likely involved in transcriptional regulation, influencing various cellular processes. It may have implications in development and disease mechanisms, particularly in contexts where gene expression regulation is crucial.
DNA Brain Health Test from GetTested
Explore your genetic profile with the DNA Brain Health test from GetTested. This easy-to-perform at-home test, requiring only a saliva sample, provides insights into how your genes affect your mental health. It encompasses memory, cognitive functions, mood swings, and stress management.
Who Is the DNA Test Suitable For?
This test is ideal for anyone wanting to understand how their genetics impact their mental well-being. It is particularly useful for those looking to explore genetic factors behind stress, anxiety, or addictions.
The Testing Process
After collecting your saliva sample at home and sending it back, it takes 6-8 weeks to receive the results. These results provide not only a detailed genetic analysis but also customised recommendations. They help you better understand and manage your mental health.
FAQ
How is the DNA Brain Health test carried out?
Our DNA brain Health test is a home test kit. After ordering, we will send you a kit with everything you need to collect the saliva sample. Then, simply return your sample to us in the pre-paid envelope.
How quickly will I receive my results?
Once we receive your sample, you can expect to get your results within 6-8 weeks.
When should I take the test?
The test can be collected at any time of the day.
Example Report
Example of DNA Brain Health Test
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