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The DNA Methylation Test from GetTested provides a comprehensive analysis of your body’s methylation capabilities by exploring key genes such as MTHFR, COMT, BHMT, and several others. By analyzing these genes, the test offers insights into how your body manages crucial biological processes like gene expression, DNA repair, and detoxification. Methylation plays a vital role in many of the body’s functions and can influence everything from energy production to mental well-being. This test is ideal for those seeking a deeper understanding of their health at a molecular level and wishing to tailor their diet, lifestyle, and potential supplements based on personal genetic predispositions.

<p>The DNA Methylation Test from GetTested provides a comprehensive analysis of your body’s methylation capabilities by exploring key genes such as MTHFR, COMT, BHMT, and several others. By analyzing these genes, the test offers insights into how your body manages crucial biological processes like gene expression, DNA repair, and detoxification. Methylation plays a vital role in many of the body’s functions and can influence everything from energy production to mental well-being. This test is ideal for those seeking a deeper understanding of their health at a molecular level and wishing to tailor their diet, lifestyle, and potential supplements based on personal genetic predispositions.</p>

DNA Methylation Test

PARD3B (Par-3 Family Cell Polarity Regulator Beta): PARD3B is a protein involved in establishing cell polarity and forming tight junctions in epithelial cells. It plays a key role in tissue organization and maintaining barrier function. Mutations in PARD3B can result in developmental disorders that impact tissue structure and integrity.



PARD3B

HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4): HCN4 is a vital protein that forms part of the cardiac pacemaker channels responsible for controlling heart rhythm. It plays a key role in generating and regulating the pacemaker current, which influences heart rate and cardiac output. Mutations in HCN4 are linked to various cardiac arrhythmias, such as bradycardia and heart block, making it an important gene for understanding heart function and related disorders.

HCN4

BORCS7 (BLOC-1 Related Complex Subunit 7): BORCS7 is a component of the BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). It plays a key role in the formation of lysosome-related organelles, such as melanosomes in melanocytes. Dysfunction in BORCS7 may affect pigmentation and neurological functions.



BORCS7

FOXO3 (Forkhead Box O3): FOXO3 is a transcription factor that plays a key role in regulating genes involved in cell cycle arrest, DNA repair, and apoptosis. It is an important player in the study of longevity and age-related diseases, influencing pathways that affect the aging process. In aging research, FOXO3 stands out as a central factor, with scientists working to understand its role in the complex mechanisms of life and aging.

FOXO3

WDFY2 (WD Repeat and FYVE Domain Containing 2): WDFY2 is a protein involved in endosomal sorting and trafficking. It contains WD repeats and an FYVE domain, indicating a role in vesicle-mediated transport and membrane-related signaling pathways. The specific functions of WDFY2 in cellular processes and its impact on human health and disease are still being explored.

WDFY2

STMN3 (Stathmin 3): STMN3 is a protein that regulates microtubule dynamics by destabilizing microtubules. This function is essential for processes like cell division, intracellular transport, and cell movement. In neurons, STMN3 plays a role in axonal growth and synaptic function, and its dysregulation may be linked to neurodevelopmental and neurodegenerative disorders.

STMN3

PNKD (PNKD Serine/Threonine Kinase): PNKD is a gene that encodes a serine/threonine kinase, an enzyme involved in phosphorylation reactions. This gene plays a key role in regulating neuronal activity and movement control. Mutations in PNKD have been linked to paroxysmal nonkinesigenic dyskinesia, a neurological disorder characterized by sudden and involuntary movements.

PNKD

UBE2G1 (Ubiquitin-conjugating Enzyme E2 G1): UBE2G1 is a member of the ubiquitin-conjugating enzyme family, playing a key role in the ubiquitin-proteasome system — a critical cellular pathway responsible for protein degradation and turnover. UBE2G1 specifically functions in attaching ubiquitin molecules to target proteins, marking them for degradation by the proteasome. This process is essential for regulating important cellular activities such as cell cycle progression, DNA repair, and signal transduction. The activity of UBE2G1 is tightly controlled and works in coordination with other components of the ubiquitin-proteasome system to maintain protein balance and proper cellular function.



UBE2G1

GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor that plays a key role in the development and differentiation of red blood cells and platelets. It regulates genes involved in the cell cycle and apoptosis, helping maintain a balance between cell growth and maturation. Dysregulation of GFI1B is associated with blood disorders such as anemia and thrombocytopenia, and it also contributes to leukemia development. Its function is essential for maintaining hematopoietic cell balance and highlights the complexity of blood cell production.

GFI1B

FOXP1

TOMM40 (Translocase of Outer Mitochondrial Membrane 40): TOMM40 is a key protein involved in mitochondrial function, specifically in importing proteins into the mitochondria. As part of the TOM complex, TOMM40 helps transport nuclear-encoded proteins across the outer mitochondrial membrane so they can carry out essential roles inside the mitochondria. Variants of TOMM40 are notably linked to Alzheimer's disease, influencing the risk and age of onset. It has also been associated with other neurodegenerative disorders and age-related cognitive decline.

TOMM40

SRPK2 (SRSF Protein Kinase 2): SRPK2 is a kinase involved in the phosphorylation of serine/arginine-rich proteins, which are components of the spliceosome. It plays a key role in regulating alternative splicing and gene expression. SRPK2 is important for neuronal function and may be linked to neurodegenerative diseases by affecting splicing regulation. Ongoing research explores SRPK2’s role in diseases like Alzheimer’s and its potential as a therapeutic target.



SRPK2

FBXO21 (F-Box Protein 21): FBXO21 is a gene that encodes a protein belonging to the F-box family, which plays a key role in the ubiquitin-proteasome system responsible for protein degradation. It is involved in regulating important cellular processes like the cell cycle and signal transduction. Dysregulation of FBXO21 can affect protein homeostasis and is relevant in diseases characterized by disrupted protein turnover, including neurodegenerative disorders and cancers.

FBXO21

SLC38A11 (Solute Carrier Family 38 Member 11): SLC38A11 is a protein involved in amino acid transport and nutrient sensing. It plays a key role in regulating mTORC1 signaling, which is essential for controlling cell growth and metabolism.


SLC38A11

RAB1A (RAB1A, Member RAS Oncogene Family): RAB1A is a gene that encodes a protein belonging to the RAB family of small GTPases, which regulate different aspects of vesicle trafficking. RAB1A specifically controls transport between the endoplasmic reticulum and the Golgi apparatus, playing a key role in maintaining efficient protein transport and processing within the cell.

RAB1A

URAD (Ureidoimidazole-4-Carboxamide Ribonucleotide Decarboxylase): URAD is a gene that encodes an enzyme involved in the de novo synthesis of purine nucleotides, essential for DNA and RNA production. It plays a key role in nucleotide metabolism and is important for cell proliferation and growth.

URAD

NECTIN2 (Nectin Cell Adhesion Molecule 2): NECTIN2, also known as CD112, is a transmembrane protein in the nectin family that mediates cell-cell adhesion. It is mainly expressed in epithelial and neuronal tissues and interacts with other nectins and receptors like DNAM-1 (CD226), CD96, and TIGIT. NECTIN2 plays a key role in forming and maintaining adherens junctions and synaptic connections, influencing cell migration, polarization, and synaptic transmission.

NECTIN2

RELN (Reelin): RELN (Reelin) encodes a large secreted extracellular matrix protein called reelin, which is essential for neuronal migration and positioning during brain development. It influences the layering of neurons in the cerebral cortex and cerebellum. Changes or mutations in RELN expression have been linked to several neuropsychiatric disorders, including autism, schizophrenia, and bipolar disorder. Reelin also contributes to synaptic plasticity in the adult brain, affecting learning and memory.

RELN

FCHO2 (FCH Domain Only 2): FCHO2 is a gene involved in clathrin-mediated endocytosis, a key process for internalizing substances from the cell surface. It plays a role in vesicle formation and intracellular trafficking. Dysregulation of FCHO2 may impact cellular uptake and contribute to various cellular dysfunctions.

FCHO2

EHD3 (EH-Domain Containing 3): EHD3 is a member of the EHD protein family involved in endocytic recycling. It plays a key role in the trafficking and recycling of membrane proteins back to the plasma membrane, maintaining proper cell surface composition and signaling. EHD3’s function in membrane trafficking is essential for cardiovascular health, and its dysregulation has been linked to heart diseases, emphasizing its importance in cardiac muscle cell function.

EHD3

PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1): PRTFDC1 is an enzyme involved in the purine salvage pathway, which recycles purines from degraded DNA and RNA to create new nucleotides. This role in nucleotide metabolism suggests it is important for cell proliferation and DNA repair. Changes in this pathway can impact cellular energy balance and genomic stability, with potential effects on metabolic health and DNA damage response.

PRTFDC1

ALDH2 (Aldehyde Dehydrogenase 2 Family Member): ALDH2 is an enzyme essential for alcohol metabolism, converting acetaldehyde into acetic acid. Variants of ALDH2, especially common in East Asian populations, can cause alcohol intolerance and are linked to a higher risk of certain cancers and cardiovascular diseases.

ALDH2

Thyroid Hormone Receptor Beta: THRB is a gene that encodes a receptor for thyroid hormones, which play essential roles in regulating metabolism, growth, and development. Mutations in THRB can cause resistance to thyroid hormone (RTH), a condition marked by reduced sensitivity to thyroid hormones, impacting metabolic functions and growth.


THRB

EXD3: EXD3 (Exonuclease 3'-5' Domain Containing 3) is a gene that plays an important role in cellular processes, although it is less widely studied compared to other genes. The protein encoded by EXD3 is believed to be involved in RNA processing and the regulation of gene expression. While its full range of functions is still being explored, EXD3 is thought to be essential for maintaining RNA stability and integrity, which is vital for proper cell function. Alterations or mutations in EXD3 may affect various biological pathways.

EXD3

COPS9 (COP9 Signalosome Subunit 9): COPS9 is a gene that encodes a protein part of the COP9 signalosome, a complex involved in regulating protein degradation. This complex plays key roles in cell cycle control, signal transduction, and DNA repair by modulating the ubiquitin-proteasome system, which affects protein stability. COPS9’s function in this complex highlights its importance in maintaining cellular balance and its potential impact on disease when these processes are disrupted.



COPS9

GSK3B (Glycogen Synthase Kinase 3 Beta): GSK3B is a kinase involved in various cellular processes, including glycogen metabolism, cell cycle regulation, and neuronal function. It is linked to the development of diseases such as Alzheimer’s and serves as a target for some psychiatric medications.

GSK3B

CAMKMT (Calmodulin-Lysine N-Methyltransferase): CAMKMT is an enzyme that modifies calmodulin by methylation, a protein involved in calcium signaling. This modification helps regulate calmodulin’s interaction with target proteins, influencing various calcium-dependent processes such as muscle contraction, cell division, and memory formation.

CAMKMT

DCDC2 (Doublecortin Domain Containing 2): DCDC2 is a gene involved in neuronal migration and differentiation, especially during brain development. It plays an important role in cognitive processing and language development, and has been linked to dyslexia and other learning disabilities.

DCDC2

MYH11 (Myosin Heavy Chain 11): MYH11 is a gene that encodes a smooth muscle myosin heavy chain, a vital part of the contractile machinery in smooth muscle cells. This protein is essential for smooth muscle contraction and relaxation, supporting key functions like vascular regulation, gastrointestinal movement, and respiratory activity. MYH11 helps maintain the structure and function of smooth muscle tissues throughout the body. Changes or mutations in this gene can contribute to vascular disorders, including thoracic aortic aneurysms and dissections.

MYH11

KCNIP4, also known as Kv channel-interacting protein 4, is part of the Kv channel-interacting protein (KCNIP) family, also called Kv channel regulatory proteins (KCHIPs). These proteins associate with voltage-gated potassium (Kv) channels and play a key role in modulating their function. KCNIP4 primarily regulates the properties of Kv channels, which are integral membrane proteins essential for controlling cellular electrical activity by managing potassium ion flow across membranes. Through its interaction with Kv channels, KCNIP4 influences their gating kinetics, voltage sensitivity, and membrane trafficking.

KCNIP4

UST (Uronyl 2-Sulfotransferase) is an enzyme involved in the sulfation of proteoglycans, key components of the extracellular matrix. It plays an important role in biological processes such as cell signaling and tissue repair. Dysregulation of UST activity can affect connective tissue function and may be linked to disorders involving the extracellular matrix.

EIF3M (Eukaryotic Translation Initiation Factor 3 Subunit M): EIF3M is a part of the eukaryotic translation initiation factor 3 (eIF3) complex, which is essential for protein synthesis. EIF3M plays a key role in the initiation phase of translation and is important for overall protein production in cells. Changes in EIF3M can affect cellular growth and proliferation.

EIF3M

MTNR1B (Melatonin Receptor 1B): MTNR1B is a gene that encodes one of the receptors for melatonin, a hormone responsible for regulating sleep and circadian rhythms. This receptor plays a key role in maintaining the body’s internal clock and is also involved in glucose regulation. Variations in MTNR1B have been associated with an increased risk of type 2 diabetes and disrupted sleep patterns.


MTNR1B

BANK1, also known as B-cell scaffold protein with ankyrin repeats 1, is a protein primarily expressed in B lymphocytes — a type of white blood cell essential for adaptive immunity. BANK1 plays a key role in regulating B-cell receptor (BCR) signaling, which is critical for B cell activation and differentiation. As a scaffold protein, BANK1 facilitates the assembly of signaling complexes following BCR engagement by interacting with various molecules such as kinases, phosphatases, and adapter proteins, thereby modulating downstream signaling pathways.




BANK1

SRR (Serine Racemase): SRR is an enzyme that catalyzes the production of D-serine, a co-agonist of the NMDA receptor. Both are essential for neurotransmission and synaptic plasticity in the brain. Changes in SRR activity can impact glutamatergic signaling and have been associated with neurodegenerative diseases like Alzheimer’s and psychiatric disorders such as schizophrenia, highlighting its important role in brain function and mental health.

BMP2 (Bone Morphogenetic Protein 2): BMP2 is a member of the TGF-beta superfamily, known for its essential roles in bone and cartilage development. It promotes bone formation and regeneration, making it a key factor in maintaining skeletal health. Dysregulation of BMP2 signaling has been linked to skeletal disorders and cardiovascular disease, highlighting its importance in regenerative medicine and tissue engineering.

BMP2

ALPK1 (Alpha Kinase 1): ALPK1 is an enzyme that plays a role in regulating various cellular processes, including inflammation and immune responses. It has been associated with the development of chronic inflammatory diseases and is considered a potential target for therapeutic intervention in these conditions.

ALPK1

IGLV4-60 (Immunoglobulin Lambda Variable 4-60): IGLV4-60 is a gene that reflects a part of the immunoglobulin family involved in the adaptive immune response. It encodes a component of the variable region of lambda light chains in antibodies. This gene plays a key role in antigen recognition, with its diversity being essential for the immune system’s ability to respond to a wide range of pathogens.

IGLV4-60

SOD3 (Superoxide Dismutase 3): SOD3 is an enzyme that acts as a defender against oxidative stress by dismutating superoxide radicals. It plays a crucial role in protecting tissues and cells from damage caused by reactive oxygen species. SOD3’s activity supports cardiovascular health and tissue protection, making it an important component of the body’s defense mechanisms.



SOD3

FLT3 (Fms-Like Tyrosine Kinase 3): FLT3 is a receptor tyrosine kinase involved in the proliferation and differentiation of hematopoietic stem cells into mature blood cells. Mutations in FLT3, especially activating mutations, are commonly seen in acute myeloid leukemia (AML) and are linked to poor prognosis. Targeting FLT3 with inhibitors is a therapeutic approach used to treat AML and other blood cancers with FLT3 mutations.

FLT3

RMI2 (RecQ Mediated Genome Instability 2): RMI2 is a protein that plays a vital role as part of a complex involved in maintaining genomic stability. It is essential for repairing DNA double-strand breaks and resolving DNA recombination structures. Proper function of RMI2 helps prevent genomic instability, which is a critical factor in cancer development and progression.

RMI2

ECHDC3, also known as Enoyl-CoA Hydratase Domain-Containing Protein 3, is an enzyme involved in fatty acid metabolism. It contains a domain typical of enoyl-CoA hydratases, which catalyze the hydration of enoyl-CoA intermediates in the β-oxidation pathway. This pathway is a key metabolic process that breaks down fatty acids into acetyl-CoA within mitochondria and peroxisomes, supporting energy production. ECHDC3 plays an important role in facilitating fatty acid β-oxidation, which ultimately helps generate ATP, the cell’s main energy source.

ECHDC3

HMX3 (H6 Family Homeobox 3): HMX3 is a homeobox gene that encodes a transcription factor involved in early embryonic development. It plays a critical role in the formation of the nervous system, particularly in the development of specific brain regions and sensory organs like the inner ear.

HMX3

CD101 (CD101 Molecule): CD101 is a cell surface glycoprotein involved in immune regulation. It plays a role in both activation and suppression of immune cells, especially in autoimmune diseases and immune responses. Its expression on T cells and other immune cells is important for modulating the immune system’s activity.

CD101

CBLB (C-Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase): CBLB is a gene that encodes an E3 ubiquitin ligase protein involved in regulating intracellular signaling pathways by targeting proteins for degradation. It plays a role in immune responses, particularly by negatively regulating T cell activation. Dysregulation of CBLB may contribute to autoimmune diseases and other immune-related disorders.

CBLB

PPM1F (Protein Phosphatase, Mg2+/Mn2+ Dependent 1F): PPM1F is a gene that encodes a protein phosphatase involved in the dephosphorylation of target proteins. This process is essential for regulating cellular functions such as signal transduction and cell cycle progression. PPM1F likely plays a role in fine-tuning these critical cellular activities.

PPM1F

THBS3 (Thrombospondin 3): THBS3 is a gene that encodes a protein belonging to the thrombospondin family, which is involved in cell-to-cell and cell-to-matrix communication. It plays a role in tissue remodeling, wound healing, and angiogenesis—the formation of new blood vessels. Dysregulation of THBS3 has been associated with various pathological conditions, including fibrosis and cancer.



THBS3

COPB2 (Coatomer Protein Complex Subunit Beta 2): COPB2 is a gene that encodes a protein involved in the coatomer complex, which plays a key role in vesicle formation and transport within cells. It is essential for the movement of proteins between the endoplasmic reticulum and the Golgi apparatus.

COPB2

GNPDA2 (Glucosamine-6-Phosphate Deaminase 2): GNPDA2 is a gene involved in glucose metabolism and glycemic control. It plays a role in converting glucosamine-6-phosphate to fructose-6-phosphate, a key step in glucose utilization. Variations in GNPDA2 have been linked to type 2 diabetes risk and the regulation of glucose homeostasis.

GNPDA2

LRRN2 (Leucine Rich Repeat Neuronal 2): LRRN2 is a member of the leucine-rich repeat family of proteins, which are involved in protein-protein interactions. LRRN2 plays important roles in cell adhesion, signaling, and neuronal development. It is expressed in various brain regions and is believed to contribute to neural circuit formation and synaptic differentiation. Its involvement in neural development and plasticity suggests a potential role in neurological disorders, although its specific functions are still being studied.

LRRN2

TTC39C (Tetratricopeptide Repeat Domain 39C): TTC39C is a gene that encodes a protein belonging to the tetratricopeptide repeat family, involved in various cellular processes including the regulation of cholesterol metabolism and transport. While its specific role is less well characterized, TTC39C is being studied for potential involvement in lipid homeostasis and metabolic disorders such as obesity and cardiovascular disease.

TTC39C

SRD5A2, or 5-alpha-reductase 2, is an enzyme that facilitates the conversion of testosterone into dihydrotestosterone (DHT), a more potent androgen. It is mainly expressed in androgen-sensitive tissues such as the prostate gland, hair follicles, and external genitalia. SRD5A2 plays a key role in androgen metabolism and the regulation of androgen signaling. Testosterone, produced primarily in the testes, adrenal glands, and ovaries, acts as the precursor for DHT. By reducing the 4,5 double bond in the A ring of testosterone, SRD5A2 increases the binding affinity of DHT to the androgen receptor (AR).



SRD5A2

SPINK6 (Serine Peptidase Inhibitor, Kazal Type 6): SPINK6 is a gene that encodes a protein involved in skin barrier function and regulation. It acts as an inhibitor of serine proteases, enzymes that play important roles in processes like inflammation and immune response. SPINK6 has also been linked to various skin diseases.

SPINK6

INHBC (Inhibin Beta C Subunit) is a member of the activin-inhibin family, which plays key roles in regulating reproduction, cell growth, and differentiation. It is involved in controlling the levels of follicle-stimulating hormone (FSH). Dysregulation of INHBC can impact reproductive health and may be linked to certain cancers.

INHBC

DPPA2 (Developmental Pluripotency-Associated 2): DPPA2 is a gene associated with pluripotency and involved in regulating embryonic stem cell identity. It plays a role in maintaining the undifferentiated state of these stem cells and is part of the molecular machinery that controls gene expression linked to pluripotency.

DPPA2

CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C): CDKN1C is a gene that encodes the cyclin-dependent kinase inhibitor p57^Kip2, which regulates the cell cycle by inhibiting cyclin-CDK complexes. It plays a critical role in controlling cell growth and development. Mutations in CDKN1C are associated with overgrowth disorders such as Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

CDKN1C

HSPA13 (Heat Shock Protein Family A (Hsp70) Member 13): HSPA13 is a gene that encodes a protein belonging to the heat shock protein family, known for helping protect cells from stress by assisting in protein folding, repair, and degradation. Although its specific functions are less understood, HSPA13 is believed to be involved in the cellular stress response and may play a role in conditions like cancer and neurodegenerative diseases, where protein misfolding and stress pathways are disrupted.

HSPA13

H2BC1 (Histone H2B type 1-C/E/F/G/I) is a gene that encodes a protein belonging to the histone H2B family, essential for packaging DNA into chromatin in eukaryotic cell nuclei. Histones like H2B play a key role in regulating gene expression by controlling DNA accessibility to transcription factors and machinery. H2BC1 specifically contributes to forming the nucleosome core, where H2B proteins, together with histones H2A, H3, and H4, assemble into an octameric complex around which DNA is wrapped.

H2BC1

TFAP2B (Transcription Factor AP-2 Beta): TFAP2B is a gene that encodes a transcription factor involved in regulating gene expression during embryonic development and differentiation. Mutations in TFAP2B have been linked to developmental disorders and are also associated with conditions such as obesity and diabetes.



TFAP2B

FRA10AC1 (Fragile Site, Folic Acid Type, Rare, Fra(10)(q23.3) Or FRA10A Candidate 1): FRA10AC1 is a gene associated with a rare fragile site on chromosome 10. Fragile sites are specific regions in the genome that show increased susceptibility to breakage under certain conditions. These areas can contribute to chromosomal instability and have been linked to various genetic disorders and cancers. While the exact functions of FRA10AC1 are not fully understood, research is focused on its role in maintaining genomic stability and its potential connection to developmental disorders and disease risk.

FRA10AC1

NVL (Nuclear VCP-Like): NVL is a member of the AAA-ATPase family involved in several cellular processes, including ribosome biogenesis and the response to cellular stress. It plays a role in maintaining cellular homeostasis and ensuring proper nucleolus function.

IFNLR1 (Interferon Lambda Receptor 1): IFNLR1 is a gene that encodes the receptor for interferon lambda, a type of interferon involved in the immune response to viral infections. It plays a key role in antiviral defense, especially in the respiratory and gastrointestinal tracts. IFNLR1 signaling helps control viral infections while limiting tissue damage caused by inflammation.

IFNLR1

TYR (Tyrosinase): TYR is an enzyme that plays a key role in the melanin biosynthesis pathway, responsible for the initial steps of converting tyrosine into melanin pigments. Melanin is essential for the coloration of skin, hair, and eyes, and it provides protection against UV radiation. Mutations in TYR are linked to albinism, a condition marked by reduced or absent melanin, which can lead to visual impairments and a higher risk of skin cancer. TYR’s role in pigmentation highlights its importance in shielding against UV damage and supporting normal visual system development.




NRBF2 (Nuclear Receptor Binding Factor 2): NRBF2 is a protein involved in autophagy, a cellular process that degrades and recycles damaged or unnecessary components. NRBF2 plays a key role in regulating autophagy by helping form autophagosomes, the double-membraned vesicles that capture cellular cargo for degradation. It interacts with the ULK1 kinase complex—which includes ULK1, ATG13, FIP200, and ATG101—promoting its stability and activity, which is essential for initiating autophagy.

NRBF2

CHRM3 (Cholinergic Receptor Muscarinic 3): CHRM3 is a receptor for acetylcholine (ACh) that plays a key role in various physiological functions, including smooth muscle contraction and glandular secretion. Dysregulation of CHRM3 is associated with conditions such as asthma and overactive bladder syndrome.



CHRM3

GCSAML (Germinal Center-Associated Signaling And Motility-Like): GCSAML is a gene that is less well characterized but is thought to play a role in immune cell signaling and motility, especially in germinal center B cells. It may be important for the development of immune responses and the regulation of B cell activity.

GCSAML

PEAK1 (Pseudopodium-Enriched Atypical Kinase 1): PEAK1 is a gene involved in cell signaling and cytoskeletal dynamics. It plays an important role in cell migration, adhesion, and invasion. Dysregulation of PEAK1 has been linked to cancer progression and metastasis, as it promotes tumor cell mobility and invasion into surrounding tissues.

PEAK1

TNXB (Tenascin-XB) is a member of the tenascin family of extracellular matrix proteins and plays a key role in tissue development, organization, and maintenance. It is mainly found in connective tissues, contributing to the structural integrity and elasticity of the extracellular matrix (ECM). TNXB supports cell adhesion, migration, and proliferation, impacting processes like wound healing, tissue remodeling, and organ formation. Its expression is especially high in skin, tendons, and blood vessels, where it helps regulate the mechanical strength and resilience of these tissues.




TNXB

VCAN (Versican): VCAN is a gene that encodes 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 such as wound healing and embryonic development.


VCAN

ZNF804A (Zinc Finger Protein 804A): ZNF804A is a zinc finger protein implicated in psychiatric disorders, especially schizophrenia and bipolar disorder. It is believed to play a role in brain development and synaptic plasticity. Variations in ZNF804A have been linked to changes in brain structure and function, making it important in neuropsychiatric research and the development of targeted therapies.

ZNF804A

SHC1 (SHC Adaptor Protein 1): SHC1 is a protein that plays a key role in cellular signaling by acting as an adaptor in pathways regulating cell growth, differentiation, and survival. It mediates the activation of the Ras/MAPK signaling pathway, influencing how cells respond to growth factors and cytokines. Dysregulation of SHC1 has been linked to the development of various cancers and cardiovascular diseases, underscoring its important role in cell signaling and disease progression.


SHC1

AKT3, also known as Protein Kinase B (PKB) gamma, is a serine/threonine protein kinase that plays a key role in regulating several cellular processes — including cell survival, proliferation, metabolism, and growth. As a member of the AKT kinase family (which includes AKT1 and AKT2), AKT3 is primarily involved in controlling cell survival and apoptosis. It becomes activated in response to growth factors, cytokines, and other extracellular signals that promote cell growth and survival. Once activated, AKT3 phosphorylates downstream targets like BAD and caspase-9, which are important in the regulation of apoptosis.

AKT3

TPO (Thyroid Peroxidase) is a gene that encodes an enzyme essential for thyroid hormone synthesis. This enzyme catalyzes the iodination and coupling of hormone precursors, leading to the production of thyroid hormones (T3 and T4). Dysregulation of TPO can contribute to thyroid disorders.

ZGRF1, also known as Zinc finger GRF-type containing 1, is a protein defined by the presence of zinc finger domains — common motifs involved in binding nucleic acids and mediating protein-protein interactions. Located primarily in the cell nucleus, ZGRF1 is believed to function as a transcription factor or regulator of gene expression. Although the precise roles of ZGRF1 are still being studied, zinc finger proteins generally play key roles in various cellular processes such as gene transcription, RNA processing, and chromatin remodeling. These proteins can act as transcriptional activators or repressors by binding to specific DNA sequences.

ZGRF1

CDK6 (Cyclin-Dependent Kinase 6): CDK6 is a protein that, when combined with D-type cyclins, plays a key role in regulating the cell cycle, especially the transition from the G1 to S phase. It is essential for cell proliferation and differentiation. Dysregulation of CDK6 has been associated with various cancers, making it an important target for cancer therapies, particularly in tumors with CDK6 overexpression or abnormal activity.

CDK6

FAM216B (Family With Sequence Similarity 216 Member B): FAM216B is a gene about which limited information is available. Genes in the FAM216 family are thought to participate in various cellular processes, but the exact function and role of FAM216B in human health and disease remain largely uncharacterized.

FAM216B

SIDT2 (SID1 Transmembrane Family Member 2): SIDT2 is a gene that encodes a protein involved in the cellular uptake of RNA molecules, playing a role in RNA interference (RNAi) mechanisms. It is important in the study of gene regulation and has potential implications for RNA-based therapeutics. SIDT2’s function in RNA transport is crucial for understanding how cells regulate gene expression and respond to external RNA molecules.



SIDT2

GPM6A (Glycoprotein M6A): GPM6A is a gene that encodes a glycoprotein mainly expressed in the nervous system. It plays a critical role in neurite outgrowth and the formation of neuronal networks, as well as in the development and maintenance of the myelin sheath, which is essential for efficient nerve signal transmission. GPM6A is linked to neurological disorders such as schizophrenia and bipolar disorder, due to its involvement in neuronal plasticity and myelination. Changes in GPM6A expression or function may affect synaptic connectivity and brain function, potentially contributing to these neuropsychiatric conditions.

GPM6A

USP25 (Ubiquitin Specific Peptidase 25): USP25 is a gene that encodes an enzyme involved in the ubiquitin-proteasome pathway, which removes ubiquitin from proteins to regulate their degradation. It plays a role in various cellular processes such as signal transduction and stress response. Changes in USP25 have been linked to immune system dysregulation and may contribute to cancer development.

USP25

Gluten Sensitivity (Non-Celiac): Gluten Sensitivity is a condition where individuals experience symptoms similar to celiac disease after consuming gluten, but without the autoimmune intestinal damage characteristic of celiac disease. Although the exact cause is unknown, it is believed to involve an innate immune response to gluten in genetically predisposed individuals.

Gluten Sensitivity

TNP1, or Transition Protein 1, is a protein primarily found in the nuclei of developing spermatids — the immature male germ cells — during spermiogenesis, the final stage of spermatogenesis where round spermatids mature into spermatozoa. TNP1 belongs to a family of small, highly basic transition proteins involved in chromatin remodeling during this process. Its main function is to facilitate the replacement of histones with protamines, which are specialized proteins that tightly compact DNA within the sperm nucleus.

TNP1

FUT5 (Fucosyltransferase 5): FUT5 is an enzyme involved in fucose metabolism, responsible for adding fucose to glycans. These glycans play essential roles in cell-cell interaction and communication. Changes in FUT5 activity can impact immune responses and have been studied in connection with cancer.

FUT5

STMN4 (Stathmin-Like 4): STMN4 is a gene that encodes a protein involved in microtubule dynamics and regulation. It plays a role in cytoskeleton organization and may influence key cellular processes such as cell division and intracellular transport.

STMN4

ADAMTS16 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif, 16): ADAMTS16 is an enzyme involved in the cleavage of extracellular matrix components. It plays a role in tissue remodeling and development. Dysregulation of ADAMTS16 has been linked to conditions such as kidney and cardiovascular diseases, and it may also have implications for fertility.

ADAMTS16

PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta): PPARGC1B is a coactivator of the PPARγ receptor that plays a key role in energy metabolism. It helps regulate genes involved in energy production, including mitochondrial biogenesis and fatty acid metabolism. This gene is important in metabolic processes and has been associated with conditions such as obesity and diabetes.

PPARGC1B

AOC1 (Amine Oxidase, Copper Containing 1): AOC1 is an enzyme involved in the metabolism of histamine and polyamines. It plays a key role in regulating histamine levels and is important for allergic responses, gastrointestinal function, and immune system regulation.




AOC1

PRDM8 (PR/SET Domain 8): PRDM8 is a transcription factor involved in neurodevelopment, particularly in the differentiation and function of neurons. It plays a role in the development of the central nervous system and has been linked to neural disorders.

PRDM8

PRR5L (Proline Rich 5 Like): PRR5L is a gene associated with the mechanistic target of rapamycin (mTOR) complex, which regulates cell growth, proliferation, and survival in response to nutrients and environmental signals. PRR5L influences mTOR complex 2 (mTORC2) activity, affecting insulin signaling, cytoskeletal organization, and cell survival. Dysregulation of mTOR pathways involving PRR5L is linked to diseases such as cancer and metabolic disorders.

PRR5L

LGSN (Lengsin): LGSN is a lens-specific protein involved in maintaining and regenerating the lens in the eye. It plays a key role in preserving the transparency and refractive properties of the lens. Mutations in LGSN are linked to cataract formation, highlighting its importance in eye health and lens development.

LGSN

FOXA2 (Forkhead Box A2): FOXA2 is a transcription factor that plays a critical role in the development and function of multiple tissues, including the liver, pancreas, and lungs. It regulates genes involved in metabolism, development, and cell differentiation. In the pancreas, FOXA2 is essential for the formation and proper function of insulin-producing beta cells, helping maintain glucose balance by controlling genes related to insulin secretion and glucose metabolism.

FOXA2

CETP (Cholesteryl Ester Transfer Protein): CETP is a protein that plays a key role in lipid metabolism by facilitating the transfer of cholesteryl esters and triglycerides between lipoproteins. It influences the composition of HDL (high-density lipoprotein) and LDL (low-density lipoprotein), making it important in cardiovascular health. CETP inhibitors have been studied as potential treatments for atherosclerosis because of their ability to increase HDL cholesterol levels.



CETP

BLMH (Bleomycin Hydrolase): BLMH is an enzyme that plays a key role in metabolizing and detoxifying the chemotherapeutic drug bleomycin. Bleomycin works by causing DNA damage in cancer cells but can also lead to lung toxicity as a side effect. BLMH helps break down bleomycin into harmless compounds, reducing this risk. Understanding BLMH’s function is important for improving cancer treatment and managing side effects, especially in patients receiving bleomycin-based therapies. Researchers continue to investigate ways to enhance the safety and effectiveness of these treatments.



BLMH

PKNOX1 (PBX/Knotted 1 Homeobox 1): PKNOX1 is a transcription factor involved in regulating gene expression during development and cellular differentiation. It plays a role in embryogenesis and may influence hematopoietic cell development. Dysregulation of PKNOX1 can contribute to developmental abnormalities.




PKNOX1

CANT1 (Calcium Activated Nucleotidase 1): CANT1 is a gene that encodes an enzyme involved in the hydrolysis of UDP, a nucleotide important for glycosaminoglycan synthesis. Mutations in CANT1 are linked to skeletal disorders such as Desbuquois dysplasia, emphasizing its role in bone development and cartilage formation.

CANT1

NOTCH1 (Notch Receptor 1): NOTCH1 is a key component of the Notch signaling pathway, which plays an important role in cell fate determination, stem cell maintenance, and differentiation during both embryonic and adult tissue development. Dysregulation of NOTCH1 signaling is linked to various disorders, including several cancers like T-cell acute lymphoblastic leukemia, as well as developmental abnormalities. Its broad influence on cell proliferation and differentiation makes NOTCH1 a significant focus in developmental biology and oncology research.

NOTCH1

HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2): HIVEP2 is a gene involved in transcriptional regulation. It encodes a protein that binds to DNA and modulates gene expression. HIVEP2 may play a key role in regulating specific genes, with potential effects on development and immune system function.

HIVEP2

IREB2 (Iron Responsive Element Binding Protein 2): IREB2 is a gene that plays a key role in iron metabolism by regulating genes involved in iron storage and transport. It helps maintain iron balance in the body by binding to iron-responsive elements (IREs) in the mRNA of these genes, controlling their stability and translation. Proper function of IREB2 is essential to prevent iron-related health issues like anemia or iron overload disorders such as hemochromatosis. Studying IREB2 is important for understanding iron metabolism and its links to conditions including neurodegenerative diseases.

IREB2

ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4): ERBB4 is a member of the epidermal growth factor receptor (EGFR) family that acts as a key regulator in multiple cellular processes. This transmembrane receptor tyrosine kinase plays an essential role in signaling pathways that control cell proliferation, differentiation, and survival. Beyond these cellular functions, ERBB4 also influences organ development, synaptic plasticity, and cardiac function. Activation of ERBB4 initiates downstream signaling cascades that affect gene expression and cellular behavior, contributing to tissue homeostasis and development. Dysregulation of ERBB4 has been linked to various diseases, including cancer, neurological disorders, and heart abnormalities.

ERBB4

CENPW (Centromere Protein W): CENPW is a gene involved in chromosome segregation during cell division, playing a key role in the formation and function of the centromere. It is essential for accurate cell division, and dysfunction can contribute to chromosomal instability, a common feature in many cancers.

DHFR

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