219 genes

DNA Gut Health Test

Test type
Lab Test

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Collection method
Saliva

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£ 159,00

The DNA Gut Health test from GetTested provides a detailed genetic analysis of 219 genes, crucial for understanding factors affecting gut health. This at-home test analyzes specific genes to offer insights into your body’s capabilities in digestion, nutrient absorption, and gut flora balance. It is ideal for anyone seeking a comprehensive understanding of the genetic aspects influencing their gut health.

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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EAN: 7340221708419 SKU: DNA-gut Category: Tag:

What is analyzed in the test?

Irritable Bowel

ABCC5
ABCC5 (ATP-Binding Cassette Subfamily C Member 5): ABCC5 encodes a transporter protein that belongs to the ATP-binding cassette (ABC) transporter superfamily. This protein is involved in the efflux of various substrates from cells and is often associated with drug resistance in cancer. Understanding the role of ABCC5 is crucial for optimizing chemotherapy regimens and developing targeted therapies.
DOCK9
DOCK9 (Dedicator of Cytokinesis 9): DOCK9 is a gene that encodes a guanine nucleotide exchange factor (GEF) protein. GEFs play a vital role in regulating the activity of Rho family GTPases, which are central to cellular processes like cytoskeletal dynamics and cell migration. DOCK9's functions are related to cell morphology, adhesion, and migration, making it relevant in developmental biology and cancer metastasis.
EXTL2
EXTL2 (Exostosin-Like Glycosyltransferase 2): EXTL2 is a gene encoding a glycosyltransferase involved in the biosynthesis of heparan sulfate, a critical component of the extracellular matrix. Heparan sulfate is known to interact with various growth factors and signaling molecules, affecting processes like cell proliferation, adhesion, and differentiation. EXTL2's role in heparan sulfate synthesis highlights its significance in development and tissue homeostasis.
HES6
HES6 (Hes Family BHLH Transcription Factor 6): HES6 is a member of the HES family of transcription factors, which are important in the regulation of developmental processes. It acts primarily in neural differentiation and may inhibit the function of other HES proteins to promote neuronal differentiation. HES6 has been studied in the context of neurodevelopment and its dysregulation is implicated in certain neurological disorders.
LSR
LSR (Lipolysis-Stimulated Lipoprotein Receptor): LSR encodes a receptor protein involved in the uptake of lipoproteins, including chylomicrons and very-low-density lipoproteins (VLDL). This gene is essential for lipid metabolism and the transport of dietary fats. Dysregulation of LSR can lead to lipid disorders and cardiovascular diseases.
MAPT
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.
NCAM1
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.
NNMT
NNMT (Nicotinamide N-Methyltransferase): NNMT encodes an enzyme that methylates nicotinamide (vitamin B3) and is involved in the regulation of cellular metabolism and energy balance. NNMT's activity has been linked to obesity, metabolic disorders, and cancer, making it a target for therapeutic interventions.
OLFM4
OLFM4 (Olfactomedin 4): OLFM4 encodes a secreted protein that is expressed in various tissues, including the gastrointestinal tract. Its functions are not fully understood, but it is associated with the regulation of stem cell proliferation and differentiation in the gut, suggesting a role in tissue regeneration and maintenance.
PCDH15
PCDH15 (Protocadherin 15): PCDH15 encodes a member of the protocadherin family, which is involved in cell-cell adhesion and neuronal connectivity. PCDH15 is crucial for the function of sensory hair cells in the inner ear and is associated with hearing impairment and deafness.
PON2
PON2 (Paraoxonase 2): PON2 encodes an enzyme that belongs to the paraoxonase family, which plays a role in detoxification and antioxidant defense. PON2 is involved in the protection against oxidative stress and lipid peroxidation, making it relevant in cardiovascular health and other oxidative stress-related conditions.
PRRC2A
PRRC2A (Proline-Rich Coiled-Coil 2A): PRRC2A is a protein-coding gene that plays a role in various cellular processes, including cell division and gene regulation. It contains proline-rich domains and coiled-coil regions, which are important for protein-protein interactions. PRRC2A's precise functions are still being explored, but it is associated with certain cancers and may influence cell growth and differentiation.
SPATA5
SPATA5 (Spermatogenesis-Associated 5): SPATA5 is a gene associated with spermatogenesis, the process of sperm cell development. It is crucial for male fertility as it plays a role in sperm formation. Mutations in SPATA5 can lead to fertility issues and are linked to male infertility.
STK17A
STK17A (Serine/Threonine Kinase 17A): STK17A encodes a protein kinase involved in regulating cell death (apoptosis) and cell survival. It plays a role in various cellular processes, including the response to cellular stress and DNA damage. Dysregulation of STK17A can impact cell survival and contribute to diseases like cancer.
TGFBR2
TGFBR2 (Transforming Growth Factor Beta Receptor 2): TGFBR2 is a key component of the TGF-beta signaling pathway, which regulates various cellular processes, including cell growth, differentiation, and immune responses. Mutations in TGFBR2 have been associated with hereditary conditions such as hereditary hemorrhagic telangiectasia (HHT) and can contribute to the development of certain cancers.
TRPM8
TRPM8 (Transient Receptor Potential Cation Channel Subfamily M Member 8): TRPM8 is a gene encoding a calcium channel that is sensitive to cold temperatures and is involved in the sensation of cold. It is predominantly expressed in sensory neurons and plays a role in cold perception and pain modulation. Activation of TRPM8 by cold temperatures or specific chemicals can trigger a cold sensation.

Peptic Ulcers

CD151
CD151 (Cluster of Differentiation 151): CD151 is a cell surface protein that belongs to the tetraspanin family. It is involved in cell adhesion and signaling processes. CD151 interacts with other proteins on the cell surface to regulate cell migration, adhesion, and signal transduction.
EPB41L4A
EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A): EPB41L4A encodes a protein involved in cytoskeletal organization and membrane stability. It plays a role in maintaining the structural integrity of cells, including red blood cells. Mutations in this gene can lead to disorders affecting red blood cell morphology.
FAM160A2
FAM160A2 (Family with Sequence Similarity 160 Member A2): FAM160A2 is a gene with currently limited known information. Further research is needed to fully understand its function and significance.
FUT2
FUT2 is an enzyme crucially involved in the synthesis of histo-blood group antigens and secretor status determination. Specifically, FUT2 catalyzes the transfer of fucose residues onto acceptor molecules, a process essential for the production of various glycoproteins and glycolipids found in bodily fluids and on the surface of epithelial cells. One of the most well-known substrates of FUT2 is the H antigen, which serves as a precursor for the ABO blood group antigens. The presence or absence of functional FUT2 determines an individual's secretor status, impacting the expression of certain blood group antigens in bodily fluids such as saliva and milk. Dysregulation or mutations in FUT2 can affect the synthesis of histo-blood group antigens and secretor status, which has been implicated in various biological processes and disease susceptibilities. For instance, secretor status has been associated with susceptibility to certain infectious diseases, as well as influencing the composition of the gut microbiota. Additionally, variations in FUT2 have been linked to conditions such as inflammatory bowel disease and susceptibility to norovirus infection.
GUCY2F
GUCY2F (Guanylate Cyclase 2F): GUCY2F is a gene encoding guanylate cyclase, an enzyme that plays a role in regulating cyclic GMP (cGMP) levels in cells. It is involved in signal transduction and has specific functions in sensory neurons, including photoreceptor cells in the retina.
JUP
JUP (Junction Plakoglobin): JUP encodes a protein called plakoglobin, which is a component of cell-cell junctions, including desmosomes and adherens junctions. Plakoglobin is essential for maintaining the structural integrity of tissues, particularly in the skin and heart.
LY6K
LY6K (Lymphocyte Antigen 6 Complex, Locus K): LY6K is a gene encoding a member of the LY6/uPAR (lymphocyte antigen 6/urokinase-type plasminogen activator receptor) protein family. The precise function of LY6K is still under investigation, but it may be involved in immune responses and cell signaling.
MUC1
MUC1 (Mucin 1): MUC1 encodes a glycoprotein found on the surface of various epithelial cells, including those lining the respiratory and digestive tracts. It serves protective and lubricating functions and is involved in cell signaling. Aberrant expression of MUC1 is associated with several cancers.
PAPLN
PAPLN (Pappalysin 1): PAPLN is a gene associated with pregnancy-associated plasma protein-A (PAPP-A), which is involved in pregnancy-related processes. PAPP-A plays a role in the regulation of insulin-like growth factor (IGF) signaling.
PSCA
PSCA (Prostate Stem Cell Antigen): PSCA is a cell surface antigen that is expressed in certain tissues, including the prostate. It has been studied in the context of prostate cancer, where it may serve as a biomarker and potential therapeutic target.
SRBD1
SRBD1 (S1 RNA Binding Domain 1): SRBD1 is a gene encoding an RNA-binding protein. RNA-binding proteins play essential roles in post-transcriptional regulation, including mRNA splicing and stability. Further research is needed to fully understand the specific functions of SRBD1.
URAD
URAD (Ureidoimidazole-4-Carboxamide Ribonucleotide Decarboxylase): URAD is involved in the de novo synthesis of purine nucleotides, which are essential for DNA and RNA production. It plays a role in nucleotide metabolism and is critical for cell proliferation and growth.
VIPR2
VIPR2 (Vasoactive Intestinal Peptide Receptor 2): VIPR2 encodes a receptor for vasoactive intestinal peptide (VIP), a neuropeptide involved in various physiological processes, including smooth muscle relaxation, immune modulation, and neurotransmission. VIPR2 is found on the surface of cells in various tissues and plays a role in VIP signaling.

Indigestion

AMN1
AMN1 (Amnion Associated Transmembrane Protein 1): AMN1 is a gene that codes for a transmembrane protein associated with the amnion, a critical membrane surrounding the developing fetus during pregnancy. While its precise functions are still under investigation, research suggests its involvement in amniotic fluid regulation and potentially fetal development. AMN1's significance in prenatal physiology and its potential implications in congenital disorders make it a subject of continued scientific interest.
BTG1
BTG1 (B-cell Translocation Gene 1): BTG1 is a gene with diverse cellular roles, primarily centered around cell cycle regulation and cellular differentiation. It operates as a tumor suppressor gene in certain contexts, exerting influence over cell growth and proliferation. Beyond its tumor-suppressive functions, BTG1 also participates in various cellular processes, making it a subject of interest in cancer research and developmental biology.
COX7C
COX7C (Cytochrome C Oxidase Subunit 7C): COX7C is a gene encoding a subunit of cytochrome c oxidase, an essential enzyme complex residing within mitochondria. This complex plays a pivotal role in the electron transport chain, a crucial step in cellular respiration. By facilitating the transfer of electrons and protons, COX7C contributes to the generation of cellular energy in the form of adenosine triphosphate (ATP).
CWF19L2
CWF19L2 (Cell Cycle And WD Repeat Domain-Containing Protein 19-Like 2): CWF19L2 is a gene that encodes a protein featuring WD repeat domains, which frequently engage in protein-protein interactions. While its precise functions remain under investigation, the presence of WD repeat domains suggests roles in mediating molecular interactions within the cell. Further research is needed to elucidate its specific cellular contributions.
EPS8L3
EPS8L3 (Epidermal Growth Factor Receptor Pathway Substrate 8-Like 3): EPS8L3 is a gene associated with the epidermal growth factor receptor (EGFR) pathway, a fundamental signaling cascade in cellular physiology. Its involvement in cell signaling pathways implies roles in cellular responses to external stimuli and possibly cancer development. A deeper understanding of EPS8L3's functions could provide valuable insights into disease mechanisms and therapeutic strategies.
FZD1
FZD1 (Frizzled Class Receptor 1): FZD1 is a member of the frizzled receptor family, pivotal components of the Wnt signaling pathway. This pathway plays a central role in developmental processes, tissue regeneration, and cancer progression. FZD1, as a Wnt receptor, serves as a key player in modulating cellular responses to Wnt ligands, thereby influencing critical biological events and holding potential implications in disease mechanisms.
GRIN3A
GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A): GRIN3A encodes a subunit of the NMDA receptor, a crucial component in synaptic plasticity and learning. As a part of the glutamate receptor family, NMDA receptors play a pivotal role in mediating neuronal communication. Their involvement in synaptic transmission and memory formation underscores their significance in neural function and neurological research.
GZMH
GZMH (Granzyme H): GZMH is a gene that codes for a granzyme, a family of proteases involved in immune responses. Granzymes participate in cytotoxic T cell-mediated killing of target cells, particularly in immune defense against viral infections and cancer. The presence of GZMH underscores the intricate immune mechanisms employed to combat pathogens and malignant cells.
IGF1R
IGF1R (Insulin-like Growth Factor 1 Receptor): IGF1R encodes a receptor critical for responding to insulin-like growth factors (IGFs). Its central role in growth and development is well-established. IGF1R influences various cellular processes, including growth, survival, and metabolism regulation. Dysregulation of this receptor has been implicated in several diseases, making it a subject of interest in both developmental biology and clinical medicine.
MXRA8
MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8 is a gene associated with matrix remodeling, a vital process in tissue development and repair. While its specific roles are still being explored, MXRA8's involvement in extracellular matrix interactions suggests potential contributions to tissue homeostasis and regeneration. Understanding its functions may hold implications for tissue engineering and regenerative medicine.
PLPPR4
PLPPR4 (Phospholipid Phosphatase-Related Protein 4): PLPPR4 is a gene related to phospholipid metabolism and signaling pathways. Phospholipids are essential components of cell membranes and are involved in various cellular processes, including cell signaling and membrane dynamics. PLPPR4 may play a role in regulating the levels of specific phospholipids, potentially impacting cell function and membrane properties.
PPM1F
PPM1F (Protein Phosphatase, Mg2+/Mn2+ Dependent 1F): PPM1F encodes a protein phosphatase that is involved in the dephosphorylation of target proteins. Protein phosphorylation and dephosphorylation are critical for the regulation of cellular processes such as signal transduction and cell cycle progression. PPM1F likely contributes to the fine-tuning of these processes.
RALGPS2
RALGPS2 (Ras Protein Activator Like GTPase 2): RALGPS2 is a gene that codes for a protein involved in the activation of Ras GTPases. Ras GTPases are key regulators of cell growth and differentiation. RALGPS2's role in the activation of these GTPases suggests its involvement in cellular signaling pathways that control fundamental processes like cell proliferation and survival.
CNTNAP5
CNTNAP5 (Contactin-Associated Protein-Like 5): CNTNAP5 is a gene associated with proteins that are part of the contactin-associated protein (CASPR) family. These proteins are involved in neural development and the formation of specialized cell-cell contacts in the nervous system. CNTNAP5 likely contributes to the organization of neural circuits and synaptic function.

Acid Reflux

AFF3
AFF3 (AF4/FMR2 Family Member 3): AFF3 is a gene related to transcriptional regulation and chromatin organization. It belongs to the AF4/FMR2 family, which includes genes involved in gene expression. AFF3 may participate in the control of gene transcription, influencing the development and function of various cell types.
BTN2A2
BTN2A2 (Butyrophilin Subfamily 2 Member A2): BTN2A2 encodes a protein belonging to the butyrophilin family, which is involved in immune regulation. These proteins can modulate immune responses, particularly in the context of T-cell activation. BTN2A2 may play a role in regulating immune reactions and could impact the immune system's ability to respond to pathogens and antigens.
CELF4
CELF4 (CUGBP, Elav-Like Family Member 4): CELF4 is a gene encoding an RNA-binding protein that is part of the CUGBP/Elav-like family. RNA-binding proteins like CELF4 can influence RNA processing and post-transcriptional regulation of gene expression. CELF4's functions likely extend to RNA metabolism and regulation, potentially impacting various cellular processes.
FAM160A2
FAM160A2 (Family with Sequence Similarity 160 Member A2): FAM160A2 is a gene with currently limited known information. Further research is needed to fully understand its function and significance.
HIVEP2
HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2): HIVEP2 is a gene involved in transcriptional regulation. It plays a role in binding to DNA and modulating gene expression. HIVEP2 may be a critical factor in regulating the activity of specific genes, with potential implications for developmental processes and immune responses.
HLA-B
HLA-B (Human Leukocyte Antigen B): HLA-B is a gene that encodes a major histocompatibility complex (MHC) class I protein. MHC class I proteins are essential for presenting antigens to immune cells and play a central role in the adaptive immune response. HLA-B diversity contributes to an individual's immune system's ability to recognize and respond to pathogens.
KNDC1
KNDC1 (Kinase Non-Catalytic C-Lobe Domain Containing 1): KNDC1 is a gene associated with kinase domains but is considered non-catalytic, meaning it does not have enzymatic kinase activity. Its precise functions and roles in cellular processes are still being elucidated, and further research is needed to understand its contributions to cell biology.
MAML3
MAML3 (Mastermind-Like Transcriptional Coactivator 3): MAML3 is a gene involved in transcriptional coactivation. It interacts with various transcription factors and coactivates their function, influencing gene expression patterns. MAML3's role in transcriptional regulation suggests its involvement in developmental processes and cell differentiation.
MRM2
MRM2 (Mitochondrial Ribosomal Protein MRP-L23): MRM2 is a gene that codes for a mitochondrial ribosomal protein. These proteins are essential components of the mitochondrial ribosome, which is responsible for synthesizing proteins within the mitochondria. MRM2's role in mitochondrial protein synthesis is crucial for the proper functioning of this organelle and energy production in cells.
PGPEP1
PGPEP1 (Pyroglutamyl-Peptidase I): PGPEP1 is a gene associated with an enzyme involved in the hydrolysis of pyroglutamate residues from the N-terminus of peptides and proteins. This enzymatic activity contributes to the degradation and recycling of peptides in various cellular processes.
PPP1R17
PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17): PPP1R17 encodes a protein that serves as a regulatory subunit of protein phosphatase 1 (PP1). PP1 is involved in the dephosphorylation of target proteins and plays a critical role in cell signaling, metabolism, and cell cycle regulation. PPP1R17 likely modulates the specificity and activity of PP1, impacting various cellular processes.
PPP3CA
PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha): PPP3CA is a gene that codes for the catalytic subunit alpha of protein phosphatase 3 (PP3), also known as calcineurin. Calcineurin is a calcium-dependent phosphatase involved in signaling pathways that regulate immune responses and cellular processes such as gene expression. PPP3CA's activity contributes to the dephosphorylation of target proteins, influencing multiple cellular functions.
REX1BD
REX1BD (REX1 Basic Domain): REX1BD is a gene associated with a basic domain that may play a role in DNA binding or protein-protein interactions. The specific functions and cellular processes involving REX1BD require further investigation to fully understand its contributions to biology.
TSKU
TSKU (Tafazzin Knockdown Factor Upstream): TSKU is a gene related to tafazzin, an enzyme involved in cardiolipin biosynthesis, a phospholipid found in the inner mitochondrial membrane. Tafazzin is crucial for mitochondrial function and energy production. TSKU's role in tafazzin regulation suggests its involvement in maintaining mitochondrial membrane integrity.
VCAN
VCAN (Versican): VCAN is a gene that codes for versican, a large proteoglycan found in the extracellular matrix of tissues. Versican is involved in cell adhesion, migration, and tissue development. It plays a role in maintaining tissue structure and may contribute to processes like wound healing and embryonic development.

Constipation

ATP8B2
ATP8B2 (ATPase Phospholipid Transporting 8B2): ATP8B2 is a gene associated with an ATPase enzyme that transports phospholipids across cell membranes. Phospholipid transport is critical for maintaining membrane integrity and cellular homeostasis. ATP8B2 likely participates in the regulation of lipid composition in cell membranes.
CALM1
CALM1 (Calmodulin 1): CALM1 encodes calmodulin, a calcium-binding protein that plays a central role in calcium signaling. Calmodulin interacts with various target proteins, regulating their activity in response to changes in intracellular calcium levels. CALM1 is pivotal in numerous cellular processes, including muscle contraction, neurotransmitter release, and cell growth.
CXCR4
CXCR4 (C-X-C Motif Chemokine Receptor 4): CXCR4 is a gene that codes for a chemokine receptor involved in immune responses and cell migration. It binds to its ligand, CXCL12, and regulates the trafficking of immune cells. CXCR4 is crucial for immune system function and is implicated in various diseases, including cancer and HIV infection.
FZD4
FZD4 (Frizzled Class Receptor 4): FZD4 is a gene that encodes a receptor for Wnt signaling molecules. The Wnt signaling pathway is essential for embryonic development, tissue homeostasis, and stem cell regulation. FZD4's role in this pathway makes it a key player in processes like cell fate determination and tissue regeneration.
HORMAD1
HORMAD1 (HORMA Domain-Containing Protein 1): HORMAD1 is a gene associated with a protein domain involved in chromosome dynamics during meiosis. It plays a role in the regulation of homologous chromosome pairing and segregation, contributing to genetic diversity and gamete formation.
KATNIP
KATNIP (Katanin Interacting Protein): KATNIP is a gene associated with interactions with the katanin protein complex. Katanin is involved in microtubule severing, a crucial process in cell division, motility, and intracellular transport. KATNIP may modulate the activity of katanin, influencing microtubule dynamics and cellular processes.
KCTD9
KCTD9 (Potassium Channel Tetramerization Domain Containing 9): KCTD9 is a gene associated with a domain involved in protein-protein interactions and the assembly of protein complexes. It may play a role in the formation or regulation of protein complexes related to ion channel function or other cellular processes.
LRRC31
LRRC31 (Leucine-Rich Repeat-Containing Protein 31): LRRC31 is a gene encoding a protein with leucine-rich repeats, which are often involved in protein-protein interactions. Proteins with leucine-rich repeats are known to participate in signaling pathways, immune responses, and other cellular functions. LRRC31's specific functions require further investigation.
MCUR1
MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene involved in the regulation of the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. Proper mitochondrial calcium levels are crucial for energy production and cell survival. MCUR1's role is essential in maintaining mitochondrial calcium homeostasis.
MORC2
MORC2 (Microrchidia 2): MORC2 is a gene associated with the MORC family of proteins. These proteins have been linked to epigenetic regulation, DNA damage repair, and transcriptional regulation. MORC2's functions are diverse and may impact various cellular processes.
MTRES1
MTRES1 (Mitochondrial tRNA Editing Site 1): MTRES1 is a gene related to mitochondrial tRNA (transfer RNA) editing. tRNAs are essential for protein synthesis in mitochondria. MTRES1 likely plays a role in maintaining the fidelity of mitochondrial protein translation by editing tRNAs.
PPP6R2
PPP6R2 (Protein Phosphatase 6 Regulatory Subunit 2): PPP6R2 encodes a regulatory subunit of protein phosphatase 6 (PP6), which is involved in dephosphorylation of target proteins. PP6 plays roles in various cellular processes, including cell cycle regulation, DNA damage repair, and cellular signaling. PPP6R2 is likely involved in modulating the activity and specificity of PP6.
SEC62
SEC62 (SEC62 Homolog, Preprotein Translocation Factor): SEC62 is a gene associated with protein translocation into the endoplasmic reticulum (ER). It likely plays a role in the import of proteins into the ER lumen, ensuring proper folding and processing of secretory and membrane proteins.
SLITRK1
SLITRK1 (SLIT and NTRK-Like Family Member 1): SLITRK1 is a gene that encodes a member of the SLITRK family, which is involved in neuronal development and synaptic function. SLITRK1 may contribute to processes like neurite outgrowth and the formation and maintenance of neuronal connections.
ST18
ST18 (Suppression of Tumorigenicity 18): ST18 is a gene associated with tumor suppression and inflammation. It may play a role in regulating cell growth and immune responses. ST18's functions are linked to its potential role in preventing tumorigenesis.
TRAPPC9
TRAPPC9 (Trafficking Protein Particle Complex Subunit 9): TRAPPC9 is a gene associated with a subunit of the trafficking protein particle (TRAPP) complex. This complex is involved in vesicle trafficking within cells, facilitating the movement of proteins and lipids between cellular compartments. TRAPPC9's role in vesicle trafficking is essential for maintaining cellular function and organization.

Gallstones

ABCB4
ABCB4 (ATP Binding Cassette Subfamily B Member 4): ABCB4 is a gene encoding a transporter protein involved in the export of phospholipids from liver cells into bile. This gene is critical for maintaining the composition of bile and preventing the buildup of harmful compounds in the liver. Mutations in ABCB4 can lead to liver diseases, including cholelithiasis.
ATP8B1
ATP8B1 (ATPase Phospholipid Transporting 8B1): ATP8B1 is a gene that encodes a phospholipid transporter located in the liver cell membrane. It plays a crucial role in maintaining the lipid composition of cell membranes and bile. Mutations in ATP8B1 can result in progressive familial intrahepatic cholestasis (PFIC), a group of liver disorders.
C12ORF43
C12ORF43 (Chromosome 12 Open Reading Frame 43): C12ORF43 is a protein encoded by a gene located on chromosome 12 with an open reading frame that has been identified in genomic sequencing. While its precise function and role in cellular processes are still being elucidated, studies suggest potential involvement in various biological pathways. This protein may play a role in cellular metabolism, signal transduction, or protein-protein interactions, although further research is needed to fully understand its function. Dysregulation or mutations in C12ORF43 gene expression could potentially contribute to the development of certain diseases or disorders, but specific associations have not yet been fully characterized. Investigating the molecular mechanisms and physiological significance of C12ORF43 could provide valuable insights into its biological functions and potential implications for human health and disease.
CBLL1
CBLL1 (Cbl Proto-Oncogene Like 1): CBLL1 is a gene related to the Cbl family of proteins involved in signal transduction and regulation of cellular processes. These proteins are associated with the ubiquitin-proteasome pathway, which controls protein degradation and turnover.
CCDC158
CCDC158 (Coiled-Coil Domain Containing 158): CCDC158 is a gene encoding a protein with coiled-coil domains. Proteins with coiled-coil domains often participate in protein-protein interactions and may play roles in cellular structural organization or signaling pathways.
CPLANE2
CPLANE2 (Ciliogenesis and Planar Polarity Effector 2): CPLANE2 is a gene involved in ciliogenesis and the establishment of planar cell polarity (PCP). It may contribute to the formation and function of cilia, which are important cellular structures involved in various processes, including signal transduction and cell motility.
FTO
FTO (Fat Mass and Obesity-Associated Protein): The FTO gene has garnered significant attention due to its strong association with obesity and body mass index (BMI) in various populations. It's thought to influence metabolic processes like energy homeostasis and fat storage. Research suggests that variations in the FTO gene can affect appetite and energy expenditure, making it a critical gene in understanding and potentially treating obesity.
FUT3
FUT3 (Fucosyltransferase 3): FUT3 is a gene encoding a fucosyltransferase enzyme responsible for the synthesis of Lewis blood group antigens. These antigens are present on the surface of red blood cells and mucosal epithelial cells and are involved in cell adhesion and signaling.
GCKR
GCKR (Glucokinase Regulator): GCKR is a gene encoding a protein that regulates glucokinase, an enzyme involved in glucose metabolism. Variations in GCKR can influence glucose homeostasis and have been associated with diabetes and other metabolic conditions.
LANCL1
LANCL1 (LanC Like 1): LANCL1 is a gene that encodes a protein with LanC (Lantibiotic Synthetase Component C-like) domains. While the specific functions of LANCL1 are still being elucidated, proteins with LanC domains are often associated with various cellular processes, including signal transduction, protein-protein interactions, and cellular regulation. Further research is needed to fully understand the roles of LANCL1 in cellular biology.
PNKD
PNKD (PNKD Serine/Threonine Kinase): PNKD is a gene that encodes a serine/threonine kinase, a type of enzyme involved in phosphorylation reactions. Mutations in the PNKD gene have been linked to a neurological disorder known as paroxysmal nonkinesigenic dyskinesia (PNKD). PNKD is characterized by sudden and involuntary movements, and the PNKD gene's function appears to be crucial in maintaining proper neuronal activity and movement control.
PRELID1
PRELID1 (Prelamin A-Related Integral Membrane Protein 1): PRELID1 is a gene associated with nuclear envelope biology. It plays a role in the processing of prelamin A, a precursor protein to lamin A. Lamin A is a structural component of the nuclear envelope and is essential for maintaining nuclear structure and integrity. Alterations in PRELID1 may impact nuclear organization and function, leading to potential cellular consequences.
SAMM50
SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene involved in mitochondrial biology and is an essential component of the mitochondrial protein import and assembly machinery. This gene is crucial for ensuring the proper localization and function of proteins within the mitochondria. Mitochondria are the energy-producing organelles in cells, and SAMM50's role is essential for overall cellular energy metabolism and function.
SERAC1
SERAC1 (Serine Active Site Containing 1): SERAC1 is a gene associated with lipid metabolism and mitochondrial health. It is involved in the synthesis of cardiolipin, a unique phospholipid predominantly found in mitochondrial inner membranes. Cardiolipin is crucial for mitochondrial function and membrane integrity. Mutations in SERAC1 can disrupt cardiolipin production, leading to mitochondrial dysfunction and potentially causing mitochondrial disorders.
SLC10A2
SLC10A2 (Solute Carrier Family 10 Member 2): SLC10A2 encodes a solute carrier protein that plays a pivotal role in the transport of bile acids in the intestines. Bile acids are essential for the digestion and absorption of dietary fats. SLC10A2's function is critical in maintaining bile acid homeostasis, ensuring efficient fat absorption, and regulating cholesterol metabolism. Disruptions in SLC10A2 can lead to bile acid-related disorders and affect overall lipid metabolism.
SULT2A1
SULT2A1 (Sulfotransferase Family 2A Member 1): SULT2A1 is a gene encoding an enzyme belonging to the sulfotransferase family. This enzyme is responsible for sulfating various compounds, including hormones, drugs, and xenobiotics. Sulfation reactions catalyzed by SULT2A1 are crucial for the metabolism and elimination of these compounds, contributing to detoxification processes in the body.
TMEM171
TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. While its precise functions and roles in cellular processes are not fully characterized, transmembrane proteins are often involved in cell signaling, transport of molecules across cell membranes, and cellular communication. Further research is needed to uncover the specific functions of TMEM171 in cellular biology.
TRIB1
TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. Tribbles proteins are involved in the regulation of various signaling pathways, including those related to cellular growth, metabolism, and inflammation. TRIB1 has been associated with lipid metabolism, cardiovascular diseases, and cancer. Its intricate roles in these processes are areas of ongoing research.
UGT1A6
UGT1A6 (UDP Glucuronosyltransferase Family 1 Member A6): UGT1A6 is a gene that encodes an enzyme from the UDP glucuronosyltransferase family. These enzymes play a vital role in phase II metabolism, where they facilitate the conjugation of drugs, toxins, and endogenous substances with glucuronic acid, aiding in their elimination from the body. UGT1A6's function is essential for detoxification processes and maintaining overall metabolic balance.

Gut Inflammation

ADO
ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes the adenosine deaminase enzyme, specifically for RNA. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, which can impact RNA stability, function, and regulation. ADO plays a critical role in RNA editing processes that contribute to the diversity and functionality of RNA molecules.
CARD9
CARD9 (Caspase Recruitment Domain Family Member 9): CARD9 is a gene involved in innate immune signaling. It encodes a protein that contains a caspase recruitment domain (CARD) and plays a role in immune responses to fungal pathogens. CARD9 is a key player in the activation of immune cells and the production of cytokines in response to fungal infections.
CRTC3
CRTC3 (CREB Regulated Transcription Coactivator 3): CRTC3 is a gene associated with transcriptional regulation. It encodes a coactivator protein that interacts with CREB (cAMP response element-binding protein) to modulate gene expression in response to various signaling pathways. CRTC3 is involved in processes related to cellular energy balance, metabolism, and glucose homeostasis.
ETS2
ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene encoding a transcription factor from the ETS family. Transcription factors like ETS2 regulate the expression of target genes by binding to specific DNA sequences. ETS2 has been implicated in various cellular processes, including cell proliferation, differentiation, and development. Dysregulation of ETS2 can be associated with cancer and developmental disorders.
HNF4A
HNF4A (Hepatocyte Nuclear Factor 4 Alpha): HNF4A is a gene crucial for liver development and function. It encodes a transcription factor that plays a central role in regulating the expression of genes involved in liver development, glucose metabolism, and lipid metabolism. Mutations in HNF4A can lead to various metabolic disorders, including maturity-onset diabetes of the young (MODY).
IL12B
IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a critical role in stimulating the immune system's activity against infections and tumors by promoting the production of interferon-gamma (IFN-γ) and the activation of T cells and natural killer (NK) cells.
IL23R
IL23R (Interleukin 23 Receptor): IL23R is a gene encoding the receptor for interleukin-23 (IL-23), a cytokine involved in immune regulation. The IL23R receptor is primarily found on immune cells, and its activation is important for the differentiation and function of T helper 17 (Th17) cells, which play a role in inflammatory responses and autoimmune diseases.
INAVA
INAVA (Innate Immune Signal Activator): INAVA is a gene associated with innate immune signaling. It is involved in the regulation of the NF-kappaB signaling pathway, which plays a crucial role in immune responses to pathogens and inflammation. INAVA's function contributes to the activation of immune cells and the production of inflammatory mediators.
IRF8
IRF8 (Interferon Regulatory Factor 8): IRF8 is a gene encoding a transcription factor that is important for the development and function of immune cells, including dendritic cells and macrophages. IRF8 regulates the expression of genes involved in immune responses and antigen presentation. Mutations in IRF8 can impact immune cell differentiation and function.
JAK2
JAK2 (Janus Kinase 2): JAK2 is a gene encoding a kinase enzyme that is part of the Janus kinase (JAK) family. JAK2 is involved in cytokine signaling pathways and is crucial for the activation of immune and hematopoietic cells. Mutations in JAK2 are associated with blood disorders such as polycythemia vera and myeloproliferative neoplasms.
NCR3
NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a natural cytotoxicity receptor expressed on NK cells and certain T cells. NCR3 is involved in the recognition and targeting of infected or abnormal cells for destruction. It plays a role in the innate immune response against viruses and tumor cells.
NKX2-3
NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene encoding a transcription factor that is important for gastrointestinal development and homeostasis. It regulates the expression of genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been associated with inflammatory bowel diseases.
NRIP1
NRIP1 (Nuclear Receptor Interacting Protein 1): NRIP1 is a gene that encodes a protein involved in nuclear receptor signaling. It functions as a coactivator for various nuclear receptors, including estrogen receptors (ERs) and peroxisome proliferator-activated receptors (PPARs). NRIP1 plays a role in regulating gene expression in response to hormonal signals and is associated with processes such as metabolism and cell growth.
PDGFB
PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a growth factor subunit involved in cell signaling and tissue repair. It is a component of the platelet-derived growth factor (PDGF) family, which plays a crucial role in cell proliferation and migration. PDGFB is implicated in processes like wound healing, tissue remodeling, and angiogenesis (formation of new blood vessels).
PHACTR2
PHACTR2 (Phosphatase and Actin Regulator 2): PHACTR2 is a gene associated with the regulation of cellular processes, including cell signaling and cytoskeletal dynamics. It encodes a protein that interacts with protein phosphatase 1 (PP1) and actin, contributing to the control of actin filament organization and cell morphology. PHACTR2 is involved in processes like cell migration and may play a role in neuronal development.
PTGER4
PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 activation influences various cellular functions, including immune cell activation and cytokine production. It plays a role in modulating inflammation and has been studied in the context of autoimmune and inflammatory diseases.
SLC22A5
SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5, also known as OCTN2, is a crucial carnitine transporter, responsible for the cellular uptake of carnitine, a necessary compound for the transport of fatty acids into mitochondria for oxidation. This process is vital for energy production in various tissues, especially the heart and muscles. Mutations in the SLC22A5 gene can lead to primary carnitine deficiency, a condition characterized by muscle weakness and cardiomyopathy, underscoring its essential role in metabolic health and energy homeostasis.
ABT1
ABT1, also known as Activator of Basal Transcription 1, is a protein that plays a critical role in the regulation of gene expression by promoting the initiation of transcription. It is a component of the RNA polymerase I (Pol I) transcription machinery, which is responsible for transcribing ribosomal RNA (rRNA) genes to generate ribosomal RNA transcripts. One of the primary functions of ABT1 is its role as a transcription factor that binds to specific DNA sequences within the promoter regions of rRNA genes. By binding to these promoter sequences, ABT1 recruits other transcription factors and the RNA polymerase I complex to initiate transcription of rRNA genes. This process is essential for the production of ribosomal RNA, which is a fundamental component of ribosomes, the cellular machinery responsible for protein synthesis. Moreover, ABT1 is involved in the regulation of ribosomal RNA transcription in response to various cellular signals and environmental cues. It may interact with other proteins and regulatory factors to modulate the activity of RNA polymerase I and the rate of rRNA synthesis in cells. Additionally, ABT1 has been implicated in coordinating ribosome biogenesis with cell growth and proliferation, ensuring proper cellular function and homeostasis. Furthermore, dysregulation of ABT1 expression or activity has been associated with certain diseases and disorders, including cancer. Alterations in ABT1 levels or function may disrupt ribosomal RNA transcription and ribosome biogenesis, leading to aberrant protein synthesis and cell growth. Thus, ABT1 may serve as a potential target for therapeutic interventions aimed at modulating cellular proliferation and tumor growth in cancer. In summary, ABT1 is a transcription factor involved in the regulation of ribosomal RNA transcription and ribosome biogenesis. Its role in coordinating ribosomal RNA synthesis with cellular growth and proliferation underscores its importance in cellular physiology and its potential implications in disease pathogenesis, particularly in cancer. Further research on ABT1 and its regulatory mechanisms may provide insights into its roles in health and disease and its potential as a therapeutic target.
STAT3
STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a critical transcription factor involved in various cellular processes, including cell growth, differentiation, and apoptosis. It plays a significant role in the immune response and is heavily implicated in cancer biology, with dysregulation of STAT3 being linked to a variety of cancers and other diseases.

Appendicitis

DLEU7
DLEU7 (Deleted in Lymphocytic Leukemia 7): DLEU7 is a gene that has garnered attention in cancer research, particularly in the context of chronic lymphocytic leukemia. Its name reflects its discovery, where it was found deleted in certain leukemia cases. This gene is thought to play a role in cell cycle regulation and apoptosis, and its deletion or dysfunction may contribute to the development and progression of cancer. Research into DLEU7 offers potential insights into novel therapeutic targets and diagnostic markers for leukemia and possibly other cancers.
ENPEP
ENPEP (Glutamyl Aminopeptidase): ENPEP encodes an enzyme known as glutamyl aminopeptidase, which plays a crucial role in blood pressure regulation and fluid balance in the body. This enzyme is involved in the angiotensin pathway, a key regulator of blood pressure, by processing angiotensin II, a potent vasoconstrictor. Alterations or dysfunctions in ENPEP have implications in hypertension and cardiovascular diseases, making it a target for research in these areas.
KRT73
KRT73 (Keratin 73): KRT73 is a gene encoding for a type of keratin, a protein essential for the structural integrity of hair and nails. Specifically, Keratin 73 is involved in hair shaft formation. Mutations or alterations in this gene can lead to hair disorders, particularly affecting the texture and strength of hair. Studies on KRT73 contribute to understanding hair biology and potential treatments for hair-related conditions.
LTBR
LTBR (Lymphotoxin B Receptor): LTBR stands for Lymphotoxin B Receptor, a protein crucial for the development and organization of lymphoid tissues. This receptor plays a significant role in immune responses, particularly in the formation of lymph nodes and secondary lymphoid organs. Aberrations in LTBR function are linked to autoimmune diseases and have implications in immune system disorders, making it a significant focus in immunological research.
MTARC1
MTARC1 (Mitochondrial Amidoxime Reducing Component 1): MTARC1 is a mitochondrial gene involved in the reduction of N-hydroxylated compounds, a process important for detoxification. It plays a role in cellular metabolism and energy production. Alterations in MTARC1 can affect mitochondrial function, which is crucial for energy production in cells. Research into MTARC1 is important for understanding metabolic disorders and mitochondrial diseases.
NKX2-3
NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene encoding a transcription factor that is important for gastrointestinal development and homeostasis. It regulates the expression of genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been associated with inflammatory bowel diseases.
OSR1
OSR1 (Odd-Skipped Related 1): OSR1 is a transcription factor gene playing a key role in embryonic development, especially in the formation of the heart and urogenital system. Mutations or dysregulation of OSR1 can lead to developmental abnormalities in these systems. Research on OSR1 is significant for understanding congenital defects and developmental biology.
PITX2
PITX2 (Paired Like Homeodomain 2): PITX2 is critical for the development of multiple organ systems, including the eyes, heart, and abdominal organs. It's a transcription factor involved in the left-right asymmetry of the body. Mutations in PITX2 are associated with Axenfeld-Rieger syndrome, which affects the eyes and other organs. Understanding PITX2 is key in developmental biology and in exploring treatments for related congenital disorders.
RASSF3
RASSF3 (Ras Association Domain Family Member 3): RASSF3 is a member of the RASSF family of tumor suppressor proteins that play pivotal roles in cell cycle regulation, apoptosis, and cellular senescence. It functions as a key mediator of various signaling pathways, notably those involving the Ras proteins, which are critical for cell proliferation, differentiation, and survival. RASSF3's ability to interact with microtubules and other cellular structures further contributes to its involvement in the maintenance of genomic stability and the regulation of mitotic processes. The protein is implicated in the suppression of tumor growth and progression by inhibiting abnormal cell proliferation and inducing apoptosis in response to oncogenic signals. Loss of RASSF3 expression or its inactivation through genetic mutations can lead to uncontrolled cell growth and is associated with the development and progression of various cancers. Consequently, RASSF3 is considered a potential biomarker for cancer diagnosis and prognosis, as well as a target for therapeutic intervention in oncology.
ANGPTL4
ANGPTL4 (Angiopoietin-Like 4): ANGPTL4, a member of the angiopoietin-like protein family, is a multifunctional protein involved in regulating lipid metabolism, angiogenesis, and inflammation. It exerts its effects through various mechanisms, including inhibition of lipoprotein lipase (LPL) activity, which leads to increased plasma triglyceride levels. Additionally, ANGPTL4 modulates angiogenesis by inhibiting endothelial cell migration and tube formation, thereby influencing vascular development and remodeling. Moreover, ANGPTL4 has been implicated in inflammation regulation through its interactions with inflammatory mediators and its role in tissue repair processes. Dysregulation of ANGPTL4 has been associated with metabolic disorders such as obesity, dyslipidemia, and insulin resistance, as well as with cancer progression and metastasis. The intricate involvement of ANGPTL4 in various physiological and pathological processes highlights its potential as a therapeutic target for metabolic and vascular diseases, as well as for cancer treatment strategies aimed at inhibiting angiogenesis and metastasis.
FSHR
FSHR, or Follicle-Stimulating Hormone Receptor, is a G protein-coupled receptor (GPCR) primarily expressed on the surface of ovarian granulosa cells in females and Sertoli cells in males. It plays a crucial role in the regulation of reproductive function by mediating the effects of follicle-stimulating hormone (FSH), a glycoprotein hormone secreted by the anterior pituitary gland. One of the primary functions of FSHR is its role in folliculogenesis, the process by which ovarian follicles develop and mature. In females, FSH binds to FSHR on granulosa cells within ovarian follicles, leading to a cascade of intracellular signaling events that promote follicle growth, proliferation, and differentiation. FSHR activation stimulates granulosa cell proliferation, aromatase expression, and estradiol production, which are essential for follicle maturation and ovulation. Moreover, FSHR is involved in spermatogenesis, the process of sperm production, in males. FSH binds to FSHR on Sertoli cells within the seminiferous tubules of the testes, stimulating Sertoli cell proliferation and function. FSHR activation in Sertoli cells promotes the production of factors necessary for spermatogenesis, including androgen-binding protein (ABP) and inhibin, which regulate the development and maturation of sperm cells. Furthermore, dysregulation of FSHR signaling has been implicated in various reproductive disorders and conditions. Mutations in the FSHR gene can lead to abnormal FSHR function and result in conditions such as primary ovarian insufficiency (POI) in females or impaired spermatogenesis and infertility in males. Additionally, FSHR expression and activity are regulated by various factors, including gonadal steroids, gonadotropins, and intraovarian and intratesticular factors, which influence reproductive function and fertility. In summary, FSHR is a critical receptor involved in the regulation of reproductive function, mediating the effects of FSH in ovarian follicles and testicular Sertoli cells. Understanding the molecular mechanisms underlying FSHR signaling is essential for elucidating its roles in fertility and reproduction and for developing targeted therapies for reproductive disorders and infertility.
TUB
TUB (Tubby Bipartite Transcription Factor): The TUB gene encodes the Tubby bipartite transcription factor, which is involved in the regulation of appetite and body weight. Mutations in TUB have been linked to obesity and retinal degeneration. This gene is particularly significant in the study of metabolic disorders and eye diseases, providing insights into the genetic components of obesity and vision problems.

Pancreas Inflammation

ABCG5
ABCG5 (ATP Binding Cassette Subfamily G Member 5): ABCG5 is part of the ATP-binding cassette transporter family and plays a crucial role in the regulation of dietary cholesterol. It functions in tandem with another gene, ABCG8, to limit intestinal absorption and promote the excretion of sterols from the body. Mutations in ABCG5 are associated with sitosterolemia, a rare disorder characterized by high levels of plant sterols in blood, leading to atherosclerosis and other cardiovascular issues.
ADRB2
ADRB2 (Adrenoceptor Beta 2): ADRB2 encodes the beta-2-adrenergic receptor, which is involved in the 'fight or flight' response. It mediates smooth muscle relaxation in the airways and blood vessels and is a target for drugs treating asthma and COPD. Genetic variations in ADRB2 can affect an individual's response to these medications.
CTRC
CTRC (Chymotrypsin C): CTRC is a gene encoding the enzyme chymotrypsin C, which is involved in the digestion of proteins in the pancreas. Mutations in this gene can lead to chronic pancreatitis, a condition characterized by inflammation and damage to the pancreas. Research on CTRC is vital for understanding pancreatic diseases and developing treatments for pancreatic dysfunction.
JAKMIP2
JAKMIP2 (Janus Kinase And Microtubule Interacting Protein 2): JAKMIP2 is involved in the regulation of Janus kinase (JAK) signaling pathways, which are crucial for various cellular processes, including immune function and cell growth. Dysregulation of JAKMIP2 can impact immune responses and has potential implications in autoimmune disorders and cancers.
JCAD
JCAD (Junctional Cadherin 5 Associated): JCAD plays a role in cell adhesion and vascular development. It's implicated in endothelial cell function and is important for maintaining vascular integrity. Alterations in JCAD have been linked to cardiovascular diseases and could have implications in tumor angiogenesis, highlighting its importance in cardiovascular research and oncology.
MORC4
MORC4 (MORC Family CW-Type Zinc Finger 4): MORC4 is involved in chromatin remodeling and gene expression regulation. This gene has implications in cellular processes like DNA repair and apoptosis. Mutations or dysfunctions in MORC4 could be linked to various cancers and developmental disorders, making it a focus in the study of gene regulation and cancer biology.
NUP62CL
NUP62CL (Nucleoporin 62 C-Terminal Like): NUP62CL is a gene involved in the nuclear pore complex, a critical structure in the nuclear envelope that regulates the transport of molecules between the nucleus and cytoplasm. Alterations in NUP62CL can affect nuclear transport and have potential implications in neurodegenerative diseases and cancers.
PRSS1
PRSS1 (Protease, Serine 1): PRSS1 encodes for trypsin, a digestive enzyme produced in the pancreas. Mutations in this gene can lead to hereditary pancreatitis, a condition characterized by recurrent episodes of pancreatic inflammation. Understanding PRSS1 is crucial for insights into pancreatic function and the management of pancreatic disorders.
PWWP3B
PWWP3B (PWWP Domain Containing 3B): PWWP3B is a gene involved in chromatin organization and gene regulation. The PWWP domain suggests a role in epigenetic regulation. Dysfunction in PWWP3B could potentially be linked to developmental disorders and cancers, given its role in gene expression regulation.
RADX
RADX (RADX DNA Repair Helicase): RADX is involved in DNA repair, particularly in maintaining genomic stability during DNA replication. It plays a role in the response to DNA damage and is crucial for preventing genomic instability, a key factor in cancer development. RADX is significant in understanding the mechanisms of DNA repair and in cancer research.
RNF128
RNF128 (Ring Finger Protein 128): RNF128 is a gene encoding an E3 ubiquitin-protein ligase, which is involved in the ubiquitin-proteasome system, a key pathway in protein degradation. It plays a role in immune regulation and has been implicated in autoimmune diseases. Research on RNF128 is important for understanding immune responses and autoimmunity.
SLC25A34
SLC25A34 (Solute Carrier Family 25 Member 34): SLC25A34 belongs to the solute carrier family, which is involved in the transport of various molecules across cellular membranes. The specific function of SLC25A34 is not well understood, but members of this family are crucial for metabolic processes and cellular homeostasis. Studying this gene could provide insights into metabolic disorders and cellular transport mechanisms.
SPINK5
SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5): SPINK5 is a crucial gene for skin integrity and immune response, encoding a serine protease inhibitor that regulates the activity of various enzymes in the skin. Mutations in SPINK5 are associated with Netherton syndrome, a severe skin disorder characterized by inflammation, scaling, and increased allergy susceptibility. Its study is vital for understanding skin diseases and developing potential treatments for disorders related to skin barrier dysfunction.
STK32A
STK32A (Serine/Threonine Kinase 32A): STK32A encodes a serine/threonine kinase, a type of enzyme that modifies other proteins by chemically adding phosphate groups. These kinases are involved in various cellular processes, including signaling, cell cycle control, and apoptosis. The specific role of STK32A in these processes remains an area of active research, with implications for understanding cell regulation and potential roles in diseases like cancer.
TBC1D8B
TBC1D8B (TBC1 Domain Family Member 8B): TBC1D8B is part of the TBC1 domain family, known for their role in intracellular trafficking and signaling. This gene is involved in the regulation of membrane trafficking and may have implications in cellular transport processes. Understanding TBC1D8B can provide insights into cellular homeostasis and diseases related to intracellular transport dysfunction.

C. difficile Infection

C6ORF47
C6ORF47 (Chromosome 6 Open Reading Frame 47): C6ORF47, located on chromosome 6, is a lesser-characterized gene. Open reading frames like C6ORF47 often represent potential protein-coding regions, but their specific functions can be enigmatic. The study of such genes can uncover new aspects of cellular function and contribute to a more comprehensive understanding of the human genome.
CDH8
CDH8 (Cadherin 8): CDH8 encodes a type of cadherin, a protein essential for cell adhesion. Cadherins play a critical role in the formation of tissues and maintaining cell structure. CDH8, in particular, is important in the development of the nervous system and is involved in neural connections and brain development. Abnormalities in CDH8 are associated with neurodevelopmental disorders, making it a significant gene in neurological research.
CNOT4
CNOT4 (CCR4-NOT Transcription Complex Subunit 4): CNOT4 is a part of the CCR4-NOT complex, which is essential for regulating gene expression at multiple levels, including mRNA degradation and transcriptional control. This gene plays a role in various cellular processes, including immune responses and development. Dysregulation of CNOT4 has been implicated in cancer and other diseases, highlighting its importance in gene regulation and disease.
CSMD1
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.
CSMD3
CSMD3 (CUB And Sushi Multiple Domains 3): Similar to CSMD1, CSMD3 encodes a protein that participates in cell adhesion and signaling. It is also involved in immune response regulation and neuronal development. Research into CSMD3 is significant for understanding its role in diseases such as cancer and neurodevelopmental disorders.
DAP
DAP (Death-Associated Protein): DAP is involved in the regulation of cell death, a critical process in development and disease. It plays a role in apoptosis, the programmed cell death mechanism, which is essential for maintaining cellular health and preventing cancer. Understanding the function of DAP is key in studying cell life cycle and in developing therapies for diseases where cell death regulation is disrupted.
LRRN1
LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene involved in neural development, particularly in the formation and maintenance of neural connections. It encodes a protein that belongs to the leucine-rich repeat family, which is important in protein-protein interactions. LRRN1 is significant in understanding neural development and may be implicated in neurodevelopmental disorders.
NECTIN2
NECTIN2 (Nectin Cell Adhesion Molecule 2): NECTIN2, also known as CD112, is a transmembrane cell adhesion molecule that belongs to the nectin family. It plays a pivotal role in mediating cell-cell adhesion and is predominantly expressed in epithelial and neuronal tissues. NECTIN2 functions as a homophilic and heterophilic adhesion molecule, interacting with other nectins and nectin-like proteins, as well as with receptors on neighboring cells, such as DNAM-1 (CD226), CD96, and TIGIT. Through these interactions, NECTIN2 contributes to the formation and maintenance of adherens junctions and synaptic connections, thereby regulating processes such as cell migration, polarization, and synaptic transmission. Dysregulation of NECTIN2 expression or function has been implicated in various pathological conditions, including cancer metastasis, viral infections, and autoimmune diseases. Its multifaceted roles in cell adhesion and signaling make NECTIN2 an intriguing target for therapeutic interventions aimed at modulating immune responses, preventing viral spread, and controlling tumor progression.
NWD2
NWD2 (NACHT and WD Repeat Domain Containing 2): NWD2 is part of a gene family characterized by NACHT and WD repeat domains, which are involved in immune and inflammatory responses. This gene is thought to play a role in the regulation of innate immunity and inflammation. Understanding NWD2 is crucial for insights into immune system disorders and may have implications in autoimmune diseases and inflammatory conditions.
PDE5A
PDE5A (Phosphodiesterase 5A): PDE5A encodes a phosphodiesterase enzyme that specifically targets cyclic GMP, a second messenger important in various biological processes. PDE5A is well-known for its role in vascular smooth muscle regulation, and inhibitors of PDE5A are used in treating erectile dysfunction and pulmonary hypertension. Research into PDE5A is significant for cardiovascular and urogenital health.
PRSS37
PRSS37 (Protease, Serine 37): PRSS37 is a gene encoding a serine protease enzyme, which plays a role in reproductive physiology. Its exact function is still being elucidated, but it's thought to be important in sperm maturation and fertility. Mutations in PRSS37 have been associated with male infertility, making it a key gene in reproductive health research.
KCTD1
KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is part of a family of proteins that are known to interact with potassium channels, influencing their activity. These proteins play roles in various cellular functions, including signal transduction and ion transport. Mutations in KCTD1 have been linked to developmental disorders, particularly affecting the skin and hair.
SORCS2
SORCS2 (Sortilin-Related VPS10 Domain Containing Receptor 2): SORCS2 is involved in neuronal development and signaling. It is a member of the VPS10 domain-containing receptor family, which plays roles in neurotrophic signaling and neural plasticity. Dysregulation of SORCS2 has been linked to neurological disorders, including Alzheimer’s disease and schizophrenia.
TCF19
TCF19 (Transcription Factor 19): TCF19 is a transcription factor involved in cell cycle regulation. It plays a role in the control of cell proliferation and may be implicated in the response to DNA damage. Its dysfunction or dysregulation can have implications in various cancers, highlighting its importance in cell biology and oncology.
TRIM37
TRIM37 (Tripartite Motif Containing 37): TRIM37 is a gene encoding a protein with E3 ubiquitin ligase activity, involved in protein degradation. It has been implicated in the Mulibrey nanism, a rare growth disorder. The study of TRIM37 is important in understanding growth and developmental disorders and the ubiquitin-proteasome system.
USP25
USP25 (Ubiquitin Specific Peptidase 25): USP25 encodes an enzyme that is part of the ubiquitin-proteasome pathway, responsible for removing ubiquitin from proteins, thereby regulating their degradation. It is involved in various cellular processes, including signal transduction and stress response. Alterations in USP25 are linked to immune system dysregulation and potentially to cancer.

H. pylori

AKR1E2
AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase family, which is involved in the detoxification of aldehydes and ketones. The specific function of AKR1E2 is not fully understood, but members of this family play roles in metabolism and the response to oxidative stress. Research into AKR1E2 could provide insights into metabolic disorders and cellular responses to environmental stressors.
DOCK10
DOCK10 (Dedicator Of Cytokinesis 10): DOCK10 is involved in actin cytoskeletal rearrangements and plays a role in immune cell function, particularly in T-cell and B-cell activation and migration. This gene is significant in understanding immune response and has implications in autoimmune diseases and immune deficiencies.
FBXO21
FBXO21 (F-Box Protein 21): FBXO21 is part of the F-box protein family, key components in the ubiquitin-proteasome system, which regulates protein degradation. This gene plays a crucial role in various cellular processes, including cell cycle regulation and signal transduction. Dysregulation of FBXO21 can lead to disorders in protein homeostasis, making it significant in the study of diseases where protein turnover is disrupted, such as neurodegenerative diseases and cancers.
GAREM2
GAREM2 (GRB2 Associated Regulator of MAPK1 Subtype 2): GAREM2 is involved in the regulation of the MAPK/ERK signaling pathway, which is critical for cell proliferation, differentiation, and survival. It plays a role in mediating cellular responses to external stimuli, including growth factors and stress. Understanding GAREM2 is important for its implications in cancer biology, as the MAPK/ERK pathway is often dysregulated in various cancers.
HPCAL1
HPCAL1 (Hippocalcin Like 1): HPCAL1 is a calcium-binding protein similar to hippocalcin, involved in neuronal activity and plasticity. It plays a role in the calcium signaling pathways within nerve cells, which are crucial for memory and learning processes. Dysfunctions in HPCAL1 have implications in neurological disorders, particularly those involving cognitive dysfunction.
IKZF2
IKZF2 (IKAROS Family Zinc Finger 2): IKZF2, also known as Helios, is a transcription factor important for the development and differentiation of T cells. It plays a key role in maintaining the regulatory T cell lineage and function, crucial for immune tolerance and preventing autoimmunity. Dysregulation of IKZF2 has been associated with immune system disorders and is being explored for its potential in cancer immunotherapy, given its importance in immune regulation.
LGSN
LGSN (Lengsin): LGSN is a lens-specific protein involved in the maintenance and regeneration of the lens in the eye. It plays a role in maintaining the transparency and refractive properties of the lens. Mutations in LGSN can lead to cataract formation, making it a significant gene in the study of eye diseases and lens development.
METTL14
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.
NFE2
NFE2 (Nuclear Factor, Erythroid 2): NFE2 is a transcription factor important in the regulation of genes involved in erythropoiesis, the process of red blood cell production. It plays a key role in the development and maturation of erythroid cells. Mutations or alterations in NFE2 can lead to blood disorders, particularly affecting red blood cell production.
PCDH15
PCDH15 (Protocadherin 15): PCDH15 encodes a member of the protocadherin family, which is involved in cell-cell adhesion and neuronal connectivity. PCDH15 is crucial for the function of sensory hair cells in the inner ear and is associated with hearing impairment and deafness.
PDSS1
PDSS1 (Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1): PDSS1 is involved in the synthesis of coenzyme Q10, a key molecule in the mitochondrial electron transport chain. It plays a critical role in cellular energy production and antioxidant protection. Dysfunctions in PDSS1 can lead to coenzyme Q10 deficiency, which has implications in various neuromuscular and neurodegenerative diseases.
PDZD2
PDZD2 (PDZ Domain Containing 2): PDZD2 is a multi-PDZ domain protein involved in the organization of protein complexes at the cell membrane, playing a role in signal transduction and cellular communication. It is implicated in various cellular functions, including synaptic signaling in neurons. Dysregulation of PDZD2 may be linked to neurological disorders.
RAP2B
RAP2B (RAP2B, Member of RAS Oncogene Family): RAP2B is a member of the RAS oncogene family, involved in intracellular signaling pathways that regulate cell proliferation, differentiation, and survival. It plays a role in various cellular processes, including cytoskeletal organization and vesicle trafficking. Abnormalities in RAP2B signaling can contribute to the development of cancers.
SIPA1L3
SIPA1L3 (Signal-Induced Proliferation-Associated 1 Like 3): SIPA1L3 is a gene that plays a role in signal transduction and cellular proliferation. It is particularly important in the nervous system, where it contributes to synaptic regulation and neuronal signaling. Abnormalities in SIPA1L3 have potential implications in neurological disorders, possibly affecting cognitive functions and neurodevelopment.
VMP1
VMP1 (Vacuole Membrane Protein 1): VMP1 is involved in autophagy, a critical cellular process for degrading and recycling cellular components. It's particularly important for the formation of autophagosomes, structures that encapsulate cellular material for degradation. Dysregulation of VMP1 can impact cellular homeostasis and is implicated in various diseases, including pancreatitis and some forms of cancer.

EBV Infection

CEP63
CEP63 (Centrosomal Protein 63): CEP63 is crucial for centrosome duplication, a key event in cell division. It plays a significant role in maintaining the fidelity of cell division and is involved in cellular responses to DNA damage. Mutations in CEP63 can lead to microcephaly and other developmental disorders, highlighting its importance in cell cycle regulation and development.
CPXM1
CPXM1 (Carboxypeptidase X, M14 Family Member 1): CPXM1 encodes a metallo-carboxypeptidase that functions in extracellular matrix remodeling. It plays a role in cell adhesion and migration, and is involved in various physiological processes, including wound healing and inflammation. Dysregulation of CPXM1 may have implications in tissue remodeling disorders and certain cancers.
FANCI
FANCI (FA Complementation Group I): FANCI is part of the Fanconi anemia (FA) pathway, crucial for DNA repair. It plays a role in the response to DNA damage and is important for maintaining genomic stability. Mutations in FANCI can cause Fanconi anemia, a disorder characterized by bone marrow failure, cancer susceptibility, and developmental abnormalities.
GBE1
GBE1 (Glycogen Branching Enzyme 1): GBE1 is essential for glycogen synthesis, a key process in energy metabolism. It is involved in the formation of glycogen's branched structure. Mutations in GBE1 lead to glycogen storage disease type IV, characterized by abnormal glycogen accumulation in cells, affecting liver and muscle function.
GCNT1
GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1): GCNT1 is involved in the biosynthesis of mucins, which are components of mucus. It plays a role in the modification of glycoproteins, impacting cell signaling and immune response. Dysregulation of GCNT1 has implications in various diseases, including cystic fibrosis and certain cancers.
H3C12
H3C12 (Histone Cluster 3, H3c12): H3C12 is part of a cluster of histone genes, which encode histone proteins essential for DNA packaging in chromosomes. Histones play a critical role in regulating gene expression. Mutations or alterations in histone genes like H3C12 can have broad implications in cell function and are associated with various cancers.
MS4A13
MS4A13 (Membrane Spanning 4-Domains A13): MS4A13 is part of the MS4A gene family, which is involved in signal transduction and cellular activation. The specific role of MS4A13 is not well understood, but members of this family are important in immune responses and in the pathogenesis of diseases like Alzheimer's.
MST1
MST1 (Macrophage Stimulating 1): MST1 encodes a protein involved in the stimulation of macrophages, key cells in the immune system. It plays a role in inflammation and immune response, and is implicated in the pathogenesis of autoimmune diseases and cancer.
PHF14
PHF14 (PHD Finger Protein 14): PHF14 is a gene encoding a protein with a PHD finger domain, suggesting a role in chromatin-mediated regulation of gene expression. It may be involved in developmental processes and cell differentiation. Dysregulation of PHF14 can have implications in developmental disorders and various cancers.
PHKB
PHKB (Phosphorylase Kinase Beta): PHKB is part of the glycogenolysis pathway, essential for glycogen breakdown. It is a regulatory subunit of phosphorylase kinase, which activates glycogen phosphorylase, the enzyme responsible for glycogen degradation. Mutations in PHKB can lead to glycogen storage disease IX, affecting liver and muscle function.
P2RY12
P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for ADP and plays a key role in platelet aggregation, a crucial step in blood clot formation. It is a target for antiplatelet drugs, which are used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is important for cardiovascular health and in the management of clotting disorders.
RHBDD3
RHBDD3 (Rhomboid 5 Homolog 3): RHBDD3 is part of the rhomboid family of proteins, involved in various cellular processes, including signal transduction and protein trafficking. The specific function of RHBDD3 in these processes is still being explored, but it may have implications in cell signaling and cancer biology.
SIDT1
SIDT1 (SID1 Transmembrane Family, Member 1): SIDT1 is involved in the cellular uptake of double-stranded RNA, playing a role in RNA interference and antiviral responses. It is significant in understanding cellular mechanisms for fighting viral infections and in the study of RNA-based therapeutic strategies.
SLC24A4
SLC24A4 (Solute Carrier Family 24 Member 4): SLC24A4 is involved in calcium and sodium ion transport, particularly in the formation of dental enamel and regulation of melanogenesis. Mutations in SLC24A4 are associated with amelogenesis imperfecta, a condition affecting tooth enamel, and may have implications in pigmentation disorders.
SPATA6
SPATA6 (Spermatogenesis Associated 6): SPATA6 is important in spermatogenesis, the process of sperm cell development. It is involved in the formation and function of spermatozoa. Mutations in SPATA6 can lead to male infertility, making it a significant gene in the study of reproductive health.
SUGCT
SUGCT (Succinyl-CoA:Glutarate-CoA Transferase): SUGCT is involved in the metabolism of glutarate, playing a role in the tricarboxylic acid (TCA) cycle. It is important in energy production and amino acid metabolism. Dysfunctions in SUGCT can lead to glutaric aciduria type III, a metabolic disorder affecting energy production.
S1PR4
S1PR4 (Sphingosine-1-Phosphate Receptor 4): S1PR4 is a G protein-coupled receptor for sphingosine-1-phosphate (S1P), a lipid signaling molecule that influences immune cell migration, angiogenesis, and endothelial barrier integrity. S1PR4 is predominantly expressed in hematopoietic cells and plays a role in regulating immune responses and inflammation. Alterations in S1PR4 signaling can contribute to immune disorders and inflammatory diseases, emphasizing its role in immune regulation and inflammation.
SVEP1
SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule involved in the development of cardiovascular and lymphatic systems. It plays a role in cell-cell interactions and signaling pathways that are crucial for vascular integrity and immune responses. Alterations in SVEP1 are linked to cardiovascular diseases and may have implications in immune system disorders.
UTP20
UTP20 (UTP20, Small Subunit Processome Component): UTP20 is involved in the processing and assembly of the 18S rRNA, a crucial component of the small ribosomal subunit. It plays a role in ribosome biogenesis, which is essential for protein synthesis. Dysfunctions in UTP20 can affect cell growth and proliferation, with potential implications in developmental disorders and cancers.

Gastrointestinal Infection

ABO
ABO (ABO Blood Group System): The ABO gene is responsible for determining the ABO blood group of an individual. It encodes enzymes that modify the structure of glycoproteins and glycolipids on the surface of red blood cells, resulting in different blood types (A, B, AB, and O). Variations in this gene are not only crucial for blood transfusion compatibility but also have been associated with various diseases, including cardiovascular diseases and certain types of cancer.
ATXN1
ATXN1 (Ataxin 1): ATXN1 encodes a protein called ataxin-1, which is involved in neuronal function. Mutations in this gene, particularly expanded CAG repeats, cause spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disorder characterized by loss of motor coordination and balance. Research into ATXN1 is crucial for understanding and developing treatments for this and similar neurodegenerative diseases.
BHLHE41
BHLHE41 (Basic Helix-Loop-Helix Family, Member E41): BHLHE41, also known as DEC2, is a transcription factor implicated in the regulation of circadian rhythms and sleep. Variations in this gene are associated with natural short sleep phenotype, where individuals function well with less sleep than average. Understanding BHLHE41 could provide insights into sleep disorders and circadian rhythm regulation.
CNTN5
CNTN5 (Contactin 5): CNTN5 is part of the contactin family, playing a role in the development of the nervous system, particularly in the formation of neural connections. Mutations in CNTN5 have been linked to neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities, highlighting its importance in neuronal development and function.
FCHO2
FCHO2 (FCH Domain Only 2): FCHO2 is involved in the process of clathrin-mediated endocytosis, a key mechanism for internalizing substances from the cell surface. It plays a role in vesicle formation and trafficking within cells. Dysregulation of FCHO2 can affect cellular uptake processes and has potential implications in various cellular dysfunctions.
FLNB
FLNB (Filamin B): FLNB encodes a protein that is crucial for the cross-linking of actin filaments in the cytoskeleton. Mutations in FLNB cause a range of skeletal disorders known as filaminopathies, which include conditions like spondylocarpotarsal synostosis syndrome and Larsen syndrome. These disorders are characterized by skeletal malformations and joint dislocations.
MGA
MGA (MAX Gene Associated): MGA is a large transcription factor involved in the regulation of cell growth and division. It is part of a network of genes that control cell cycle progression and has been implicated in the development of certain cancers, as it can interact with oncogenes and tumor suppressor genes.
MFHAS1
MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1): MFHAS1, also known as MASL1, is implicated in immune responses and inflammation. It has been studied in the context of malignant fibrous histiocytoma, a type of cancer. This gene is thought to play a role in tumorigenesis and immune regulation.
NPC1
NPC1 (Niemann-Pick Disease, Type C1): NPC1 is crucial for cholesterol trafficking within cells. Mutations in this gene cause Niemann-Pick disease type C, a rare genetic disorder characterized by the accumulation of cholesterol and other lipids in cells, leading to neurodegeneration and liver dysfunction.
PIK3R1
PIK3R1 (Phosphoinositide-3-Kinase, Regulatory Subunit 1): PIK3R1 encodes a regulatory subunit of the phosphoinositide 3-kinase (PI3K), which is a part of important signaling pathways involved in cell growth, proliferation, and survival. Mutations in this gene are implicated in several cancers and are a target for cancer therapies. It also plays a role in insulin signaling and is associated with diabetes and metabolic syndromes.
PRICKLE1
PRICKLE1 (Prickle Planar Cell Polarity Protein 1): PRICKLE1 is involved in the planar cell polarity pathway, which coordinates the orientation of cells in the plane of a tissue. Mutations in PRICKLE1 are associated with epilepsy and neurodevelopmental disorders, reflecting its role in neural development and function.
RBMS3
RBMS3 (RNA Binding Motif, Single-Stranded Interacting Protein 3): RBMS3 is a gene that encodes a protein involved in RNA binding and regulation of gene expression. It is implicated in cell adhesion and tissue development. Alterations in RBMS3 have been linked to various types of cancer, including gastric and lung cancer.
SESN3
SESN3 (Sestrin 3): SESN3 is part of the sestrin family of stress-responsive proteins and is involved in the regulation of cell growth and metabolism, particularly in response to cellular stress. It plays a role in antioxidant defense and has been linked to metabolic regulation, with implications for diseases like obesity and diabetes.

Gut Microbiome Diversity

AGPAT5
AGPAT5 (1-Acylglycerol-3-Phosphate O-Acyltransferase 5): AGPAT5 is involved in the biosynthesis of phospholipids, a key component of cell membranes. It plays a role in the conversion of lysophosphatidic acid to phosphatidic acid, crucial for the production of various types of phospholipids. Dysregulation of AGPAT5 can affect lipid metabolism and is linked to disorders like obesity and lipodystrophy.
BRSK2
BRSK2 (BR Serine/Threonine Kinase 2): BRSK2 is a member of the AMP-activated protein kinase family and is involved in neuronal development and polarization. It plays a role in synaptic plasticity and neuron maturation. Mutations or alterations in BRSK2 have implications in neurological disorders and could contribute to the development of neurodevelopmental diseases.
CACNA1D
CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D): CACNA1D encodes a subunit of the L-type voltage-dependent calcium channel, which is crucial in regulating calcium influx in various types of cells, particularly in muscle and nerve cells. Mutations in this gene are associated with disorders like autism spectrum disorders, epilepsy, and certain types of cardiac dysfunctions.
CCBE1
CCBE1 (Collagen And Calcium Binding EGF Domains 1): CCBE1 is essential for lymphangiogenesis, the formation of lymphatic vessels. It plays a role in the regulation of vascular endothelial growth factor C (VEGF-C), which is critical for the development of the lymphatic system. Mutations in CCBE1 can lead to Hennekam syndrome, a condition characterized by lymphedema, lymphangiectasia, and intellectual disability.
CHL1
CHL1 (Cell Adhesion Molecule L1-Like): CHL1 is a cell adhesion molecule involved in the development and function of the nervous system. It plays a significant role in neuron migration and synaptic plasticity. Alterations in CHL1 are linked to neurodevelopmental disorders, including autism and intellectual disabilities.
GPR158
GPR158 (G Protein-Coupled Receptor 158): GPR158 is a member of the G protein-coupled receptor family and is involved in various physiological processes, including neuronal development and regulation of mood and behavior. It has been implicated in conditions such as depression and anxiety, highlighting its role in mental health.
GP2
GP2 (Glycoprotein 2): GP2 is a membrane-bound protein primarily found in the pancreas and is involved in immune responses in the gastrointestinal tract. It is important for the binding and aggregation of bacteria, playing a role in protecting the gut from microbial invasion. Alterations in GP2 are studied in the context of pancreatic disorders and inflammatory bowel diseases.
INHBC
INHBC (Inhibin Beta C Subunit): INHBC is a part of the activin-inhibin family, which regulates various functions including reproduction, cell growth, and differentiation. It is involved in the regulation of the follicle-stimulating hormone (FSH). Dysregulation of INHBC can have implications in reproductive health and certain cancers.
ISCA2
ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is involved in the assembly of iron-sulfur clusters, which are critical for mitochondrial function and cellular energy production. Mutations in ISCA2 can lead to mitochondrial disorders, affecting energy metabolism in cells and causing a range of clinical symptoms.
MACF1
MACF1 (Microtubule-Actin Crosslinking Factor 1): MACF1 is a cytoskeletal linker protein that plays a role in the stabilization and interaction of microtubules and actin filaments. It is crucial for cell motility, neuronal development, and cellular signaling. Dysfunctions in MACF1 are linked to developmental disorders and possibly to cancer metastasis.
NIPSNAP3A
NIPSNAP3A (Nipsnap Homolog 3A): NIPSNAP3A is part of a gene family that is implicated in intracellular trafficking and mitochondrial function. Its exact role is not fully understood, but it is thought to be involved in cellular metabolism and energy production. Studying NIPSNAP3A can provide insights into mitochondrial function and metabolic disorders.
NR2F2
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.
NSG1
NSG1 (Neuronal Vesicle Trafficking-Associated 1): NSG1 is a gene associated with neuronal vesicle trafficking and synapse formation. It plays a crucial role in the regulation of neurotransmitter release and synaptic transmission. Understanding NSG1 is important for unraveling the mechanisms underlying neuronal communication and synaptic plasticity, which are fundamental to brain function.
OAT
OAT (Ornithine Aminotransferase): OAT encodes the ornithine aminotransferase enzyme, which is involved in the urea cycle. This enzyme catalyzes the conversion of ornithine to citrulline, playing a key role in the detoxification of ammonia in the body. Mutations in OAT can lead to hyperammonemia, a condition characterized by elevated ammonia levels in the blood, which can have neurological consequences.
RASEF
RASEF (RAS And EF-Hand Domain Containing): RASEF is a gene that encodes a protein with both RAS and EF-hand domains, suggesting a role in signal transduction and calcium binding. The specific function of RASEF is still being elucidated, but it may be involved in cellular processes such as cell growth and differentiation.
SORCS3
SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3): SORCS3 is a member of the VPS10 domain-containing receptor family and plays a role in protein trafficking and sorting within cells. It is particularly important in the nervous system, where it regulates the trafficking of proteins involved in synaptic function. Dysregulation of SORCS3 has been linked to neurological disorders, including Alzheimer's disease and schizophrenia.
UBR5
UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5): UBR5 is a gene that encodes an E3 ubiquitin ligase, which is involved in protein degradation via the ubiquitin-proteasome pathway. UBR5 plays a role in the regulation of protein stability and turnover. Dysfunctions in UBR5 can impact various cellular processes and have implications in cancer development and neurodegenerative diseases. Understanding UBR5 is significant for research into protein homeostasis and cellular quality control.

DNA Gut Health Test from GetTested

With the DNA Gut Health test from GetTested, gain a deeper understanding of the genetic basis of your gut health. This comprehensive test is designed to provide insights into how your genes can influence various aspects of gut health, including digestion, nutrient absorption, and the composition of your gut flora.

How Does the Test Work?

You will receive a test kit delivered to your home and easily collect a saliva sample. After collecting your sample, you send it back in the prepaid return envelope. Following this, it takes 6-8 weeks to receive your results, which are delivered digitally. Consequently, the result offers a detailed genetic analysis based on the genes below.

Who Is the Test Suitable For?

The DNA Gut Health test from GetTested is perfect for those seeking a deeper understanding of their gut health at a genetic level. Firstly, this test is particularly useful for individuals aiming to optimize their diet. Secondly, it is well-suited for those experiencing digestive problems. Furthermore, it is valuable for those interested in understanding how their genes can affect their gut health.

We also offer a wide range of gut health tests that measure the gut microbiome, parasites, candida, helicobacter pylori, SIBO, food intolerances and much more.

Improve Your Gut Health with Genetics

This test not only offers a thorough genetic analysis but also provides customized recommendations based on your unique genetic makeup. By using DNA Gut Health from GetTested, you take an important step towards a better understanding and a proactive approach to your gut health.

FAQ

How is the DNA Gut Health test carried out?

Our DNA Gut 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

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Example of DNA Gut Health Test

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