DNA

ADAL (Adenosine Deaminase-Like): ADAL (Adenosine Deaminase-Like) is a protein similar to adenosine deaminase (ADA) and is involved in purine metabolism. It plays a key role in the breakdown of adenosine, a molecule important for cellular energy transfer and signaling. ADAL’s activity in adenosine metabolism is essential for maintaining cellular energy balance and nucleotide homeostasis.

ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes an enzyme responsible for RNA-specific adenosine deamination. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, influencing RNA stability, function, and regulation. ADO plays a key role in RNA editing, contributing to the diversity and functionality of RNA molecules.

APCS (Amyloid P Component, Serum): APCS is a protein that plays a key role in the innate immune system, aiding in the response to infection and injury. It binds to pathogens and damaged cells to support their clearance and is also involved in amyloid plaque formation, linking it to diseases such as Alzheimer’s. Its roles in immune modulation and inflammation make it a focus of therapeutic research.

ARRDC3 (Arrestin Domain Containing 3): ARRDC3 is a gene implicated in regulating cell signaling pathways and has been studied for its potential role in tumor suppression. It participates in receptor internalization and may influence cellular responses to external signals, including those involved in metabolic regulation.

ASB13 is a member of the ASB protein family, defined by ankyrin repeat domains and a SOCS box domain. It plays a key role in the regulation of protein degradation and signal transduction. As an E3 ubiquitin ligase, ASB13 facilitates the tagging and degradation of specific protein targets. Its SOCS box domain interacts with components of the ubiquitin-proteasome system, including E2 enzymes and Cullin-RING ligase complexes, to control targeted protein turnover.

BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein-Like): BET1L is a protein that plays a key role in the vesicular transport system, specifically managing the trafficking between the endoplasmic reticulum and the Golgi apparatus. This process is essential for the proper secretion and processing of proteins, which supports important cellular functions such as cell signaling, metabolism, and structural maintenance. BET1L’s function in this transport pathway is vital for normal cellular operations and maintaining cellular homeostasis.

BHLHE40 (Basic Helix-Loop-Helix Family Member E40): BHLHE40 is a gene that encodes a transcription factor involved in regulating the circadian rhythm. It plays a key role in controlling the sleep-wake cycle and the expression of circadian clock genes. Dysregulation of BHLHE40 can affect circadian rhythms and sleep patterns.

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.

BRSK2 (BR Serine/Threonine Kinase 2): BRSK2 is a member of the AMP-activated protein kinase family, involved in neuronal development and polarization. It plays a key role in synaptic plasticity and the maturation of neurons. Changes or mutations in BRSK2 have been linked to neurological disorders and may contribute to neurodevelopmental diseases.

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 based on changes in intracellular calcium levels. CALM1 is essential for many cellular processes, including muscle contraction, neurotransmitter release, and cell growth.

CASQ2 (Calsequestrin 2): CASQ2 is a protein involved in calcium storage within the sarcoplasmic reticulum of cardiac muscle cells. It plays a key role in regulating calcium balance and cardiac muscle contraction. Mutations in CASQ2 are associated with catecholaminergic polymorphic ventricular tachycardia, a condition characterized by irregular heartbeats triggered by physical activity or stress.

CCR3 (C-C Motif Chemokine Receptor 3): CCR3 is a receptor involved in the recruitment and activation of eosinophils, basophils, and T cells, playing a key role in inflammatory responses and allergic disease pathology. It serves as a primary receptor for eotaxin, a chemokine driving eosinophilic inflammation seen in conditions such as asthma and allergic rhinitis. Dysregulation of CCR3 signaling can worsen allergic and inflammatory conditions, making it a potential target for therapeutic intervention.

CCR7 (C-C Motif Chemokine Receptor 7): CCR7 is a key receptor in the immune system that guides the migration of T cells and dendritic cells to lymphoid tissues. Its interaction with the ligands CCL19 and CCL21 is essential for coordinating adaptive immune responses and maintaining immune surveillance. Dysregulation of CCR7 has been linked to autoimmune diseases and cancers, making it an important target in immunotherapy and cancer treatment research.

CD28 (CD28 Molecule): CD28 is a co-stimulatory receptor on T cells that is essential for their full activation and survival. It plays a critical role in the immune response, including the development of T cell memory. CD28 signaling is also a key target for immunotherapeutic drugs, particularly in the treatment of cancer and autoimmune diseases.

CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in the immune system. It is primarily expressed on B cells and antigen-presenting cells. Activation of CD40 is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can lead to immunodeficiency disorders.

CD44 (Cluster of Differentiation 44): CD44 is a cell surface glycoprotein that plays a key role in cell adhesion and migration. It is involved in several important cellular processes, including tissue regeneration, lymphocyte activation, and cancer metastasis. As a primary receptor for hyaluronic acid, CD44 also has significant roles in inflammation and tissue repair.

CDK17 (Cyclin-dependent kinase 17): CDK17 is a nuclear enzyme belonging to the cyclin-dependent kinase family, which is essential for cell cycle regulation, transcriptional control, and cellular differentiation. Acting as a serine/threonine protein kinase, CDK17 phosphorylates target proteins to modulate their activity. It plays a key role in driving cell cycle progression, particularly in promoting the transition from the G1 phase to the S phase, where DNA replication takes place.

CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): CDKN2A is a tumor suppressor gene that produces two proteins, p16INK4A and p14ARF, which are involved in regulating the cell cycle and preventing tumor development. Mutations in CDKN2A are linked to a higher risk of several cancers, including melanoma and pancreatic cancer.

CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a key role in the development and function of the nervous system. It is involved in the formation of neural circuits and synaptic connections. Variations or mutations in CNTN2 have been associated with neurodevelopmental disorders and may impact neurological processes such as learning and memory.

COG1 (Component Of Oligomeric Golgi Complex 1): COG1 is a part of the COG complex, a critical component for normal Golgi function and protein trafficking in the cell. Proper function of COG1 is essential for glycoprotein processing, and mutations in COG1 can disrupt Golgi activity, leading to congenital disorders of glycosylation—a group of metabolic conditions that cause various developmental problems.

C-reactive protein (CRP) testing measures the level of CRP in the blood, a marker that reflects inflammation in the body. Elevated CRP levels can indicate acute inflammation, infections, or chronic conditions such as rheumatoid arthritis and heart disease. This test is commonly used to diagnose and monitor inflammatory conditions, detect flare-ups, and assess cardiovascular risk. Regular CRP testing helps guide treatment decisions and evaluate how well therapies are reducing inflammation.

DRD5 (Dopamine Receptor D5): DRD5 is a gene that encodes a receptor sharing similarities with DRD1. It plays a role in cognitive and emotional processes and is involved in the brain’s response to neurotransmitters. DRD5 is also a target for certain pharmacological treatments of psychiatric and neurological disorders.

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme that plays a key role in the initiation of translation, the essential process of protein synthesis. As a member of the DEAD-box RNA helicase family, EIF4A1 is responsible for unwinding secondary structures in mRNA, allowing ribosomes to access the initiation codon and start protein production. It functions as part of the eukaryotic translation initiation complex, working together with other initiation factors to bind and scan the 5' untranslated region (UTR) of mRNA.

ESR1, also known as Estrogen Receptor Alpha, is a protein that belongs to the nuclear hormone receptor family and functions as a transcription factor. It plays a key role in mediating the effects of estrogen, a steroid hormone, across various tissues in the body. ESR1 is essential for regulating gene expression in response to estrogen binding. In the absence of estrogen, ESR1 remains in the cytoplasm in an inactive state, bound to heat shock proteins. When estrogen binds, ESR1 undergoes a conformational change, detaches from the heat shock proteins, and moves to the nucleus to influence gene transcription.

ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene that encodes a transcription factor from the ETS family. Transcription factors like ETS2 regulate the expression of specific target genes by binding to particular DNA sequences. ETS2 plays important roles in cellular processes such as cell proliferation, differentiation, and development. Dysregulation of ETS2 has been linked to cancer and developmental disorders.

FAM53A (Family With Sequence Similarity 53 Member A): FAM53A is involved in the regulation of cell proliferation and may play a role in cell development and differentiation. Although its function has been less studied, it appears to be crucial for normal cellular functions and possibly for maintaining cell integrity. Ongoing research aims to clarify its precise roles and how its regulatory disturbances may impact disease processes, such as cancer and developmental disorders.

FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is a protein involved in the translation process of protein synthesis, specifically responsible for attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations or dysregulation of FARSA can lead to errors in protein synthesis, potentially causing various cellular dysfunctions and contributing to disease development.

FGFR2 (Fibroblast Growth Factor Receptor 2): FGFR2 is a receptor that binds fibroblast growth factors and plays a key role in cell growth, differentiation, and tissue repair. It is essential for normal development, and mutations in FGFR2 are linked to several developmental disorders such as craniosynostosis and skeletal dysplasia, as well as being implicated in certain cancers.

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.

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.

GJA10 (Gap Junction Protein Alpha 10): GJA10 is a gene that encodes a connexin protein forming gap junction channels for direct exchange of ions and small molecules between cells. This communication supports tissue homeostasis and coordinated cell activity. In the eye, GJA10 helps maintain lens transparency and function, and mutations have been associated with cataracts and other vision disorders.

GP2 (Glycoprotein 2): GP2 is a gene that encodes a membrane-bound protein mainly found in the pancreas and involved in immune responses within the gastrointestinal tract. It plays a role in binding and aggregating bacteria, helping to protect the gut from microbial invasion. Changes in GP2 are studied for their potential links to pancreatic disorders and inflammatory bowel diseases.

H3C12 (Histone Cluster 3, H3c12) is a gene that encodes a histone protein, which is essential for DNA packaging within chromosomes. Histones play a key role in regulating gene expression and maintaining chromosome structure. Changes in histone genes like H3C12 can affect cell function and have been linked to the development of various cancers.

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.

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 encodes an enzyme involved in the synthesis of ketone bodies, which serve as alternative energy sources produced during fasting or periods of low carbohydrate intake. It plays a role in energy metabolism and is primarily expressed in the liver.

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 key role in activating the immune system by promoting the production of interferon-gamma (IFN-γ) and stimulating the activity of T cells and natural killer (NK) cells to fight infections and tumors.

IRF8 (Interferon Regulatory Factor 8) is a gene that encodes a transcription factor essential for the development and function of immune cells, particularly dendritic cells and macrophages. It helps regulate genes involved in immune responses and antigen presentation. Alterations in IRF8 can affect immune cell differentiation and overall immune function.

ITGA4 (Integrin Subunit Alpha 4): ITGA4 is a cell adhesion molecule that plays a key role in leukocyte migration and immune system function. It is essential for the immune system to effectively reach and respond to sites of inflammation. Dysregulation of ITGA4 can contribute to autoimmune disorders and affect the efficiency of immune responses.

ITGB8 (Integrin Subunit Beta 8): ITGB8 is a protein involved in cell adhesion and signal transduction, mediating interactions between cells and the extracellular matrix. It plays a key role in tissue remodeling, angiogenesis, and brain development by facilitating the activation of transforming growth factor-beta (TGF-beta), a cytokine that regulates cell proliferation, differentiation, and other critical functions. Dysregulation of ITGB8 has been linked to cancer progression, as well as various vascular and neurological disorders, highlighting its essential role in cellular communication and disease.

ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is a protein that reflects the body’s mechanisms for extracellular matrix stabilization and inflammation regulation. It plays an important role in tissue remodeling and repair, and dysregulation of ITIH1 has been associated with various inflammatory conditions and may contribute to cancer development.

JUP (Junction Plakoglobin): JUP is a gene that encodes plakoglobin, a protein found in cell-cell junctions, including desmosomes and adherens junctions. Plakoglobin plays a key role in maintaining the structural integrity of tissues, especially in the skin and heart.

KAT2B (Lysine Acetyltransferase 2B): KAT2B, also known as PCAF, encodes an enzyme involved in histone acetylation, a process essential for regulating gene expression. It contributes to DNA repair, cell cycle control, and apoptosis, and plays a key role in transcription regulation and chromatin remodeling. KAT2B has been linked to cancer development and certain developmental disorders.

LARP4B (La-Related Protein 4B): LARP4B is a member of the La-related protein (LARP) family, which plays a role in regulating RNA stability and translation. While the specific functions of LARP4B are still being studied, LARPs generally contribute to post-transcriptional gene regulation by affecting mRNA stability, translation, and cell growth. Understanding LARP4B may provide important insights into gene expression control and its links to diseases involving RNA dysregulation.

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 is a gene that encodes a protein associated with the nuclear envelope, playing a role in nuclear structure and organization. Mutations in LEMD3 have been linked to Buschke-Ollendorff syndrome, a rare genetic disorder affecting bone and skin.

LGR4 (Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 4): LGR4 is a G protein-coupled receptor that plays a key role in signaling pathways, including Wnt signaling. It is important for tissue development, maintenance, and homeostasis, and has been studied for its roles in stem cell biology and organ regeneration.

LRRC6 (Leucine-Rich Repeat-Containing Protein 6): LRRC6 is a gene that encodes a protein involved in the structure of cilia within cells. Cilia play a key role in cellular movement and signaling. Mutations in LRRC6 can cause ciliopathies, a group of genetic disorders marked by ciliary dysfunction and a range of clinical symptoms.

LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is a gene involved in neural development and synaptic function. It plays a key role in neuronal communication and is potentially linked to neurodegenerative diseases, making it important for understanding brain health and neurological disorders.

LSR (Lipolysis-Stimulated Lipoprotein Receptor): LSR is a gene that encodes a receptor protein involved in the uptake of lipoproteins, including chylomicrons and very-low-density lipoproteins (VLDL). It plays a vital role in lipid metabolism and the transport of dietary fats. Dysregulation of LSR can contribute to lipid disorders and cardiovascular diseases.

LYRM7 (LYR Motif Containing 7): LYRM7 is a gene that encodes a protein involved in the assembly of mitochondrial complex I, a key part of the mitochondrial respiratory chain. This complex is essential for energy production through oxidative phosphorylation. Mutations or dysregulation of LYRM7 can cause mitochondrial dysfunction, contributing to metabolic and neurodegenerative diseases. Its role in energy metabolism underscores its importance in maintaining cellular function and viability.

MACF1 (Microtubule-Actin Crosslinking Factor 1): MACF1 is a gene that encodes a cytoskeletal linker protein involved in stabilizing and connecting microtubules and actin filaments. It plays an important role in cell motility, neuronal development, and cellular signaling. Dysfunction in MACF1 is associated with developmental disorders and may contribute to cancer metastasis.

MAF (MAF BZIP Transcription Factor): MAF is a gene that encodes a transcription factor involved in the development and differentiation of various tissues, including the eye lens and pancreatic beta cells. It regulates gene expression and influences cell fate decisions. Mutations in MAF have been linked to developmental disorders and certain diseases.

MAP7 (Microtubule-Associated Protein 7): MAP7 is a protein involved in stabilizing microtubules and interacting with motor proteins. It influences cell movement and organization and plays a role in processes such as mitosis and intracellular transport. MAP7 is important for maintaining cellular structure and dynamics.

MARCO (Macrophage Receptor With Collagenous Structure): MARCO is a receptor expressed on the surface of macrophages that plays a role in the immune system’s response to pathogens and particulate matter. It is involved in recognizing and clearing bacteria and environmental particles, contributing to innate immunity and the regulation of inflammation.

MECOM (MDS1 and EVI1 Complex Locus): MECOM is a transcriptional regulator involved in hematopoiesis and the development of certain cancers, particularly myeloid leukemia. It encodes EVI1, a protein that plays a role in gene regulation, cell proliferation, and cell differentiation.

MPHOSPH6 (M-Phase Phosphoprotein 6): MPHOSPH6 is a protein involved in regulating the cell cycle, particularly during mitosis. It plays an essential role in ensuring proper cell division and has been studied in the context of cancer, where disruptions in cell cycle control are a common characteristic.

MROH2A (Maestro Heat-Like Repeat Family Member 2A): MROH2A is a protein belonging to a family characterized by maestro heat-like repeats, which are thought to be involved in lipid metabolic processes. While its precise functions remain unclear, MROH2A may contribute to cellular lipid metabolism and could have implications for metabolic disorders. Studying its role may provide insights into metabolic regulation and lipid-related disease mechanisms.

MYC (MYC Proto-Oncogene, BHLH Transcription Factor): The MYC is a well-known oncogene that plays a central role in cell cycle regulation, apoptosis, and cellular transformation. As a transcription factor, it controls the expression of numerous genes involved in key cellular processes. Overexpression of MYC is common in many cancers, making it a major focus of oncology research. Understanding MYC regulation and its pathways is critical for developing targeted cancer therapies, as its dysregulation contributes to tumor growth, progression, and treatment resistance.

NEGR1 (Neuronal Growth Regulator 1): NEGR1 is a cell adhesion molecule mainly expressed in the central nervous system. It plays a key role in neuronal growth, differentiation, and synaptic plasticity, supporting the formation and maintenance of neuronal networks. NEGR1 facilitates cell-cell interactions important for communication between neurons and neural tissue structure. Its role in neurodevelopment links it to brain function, and dysregulation or mutations in NEGR1 have been associated with neurodevelopmental disorders and other conditions.

NFIA (Nuclear Factor I A) is a transcription factor that plays key roles in regulating gene expression, cellular differentiation, and development. It is primarily located in the nucleus and belongs to the Nuclear Factor I (NFI) family, a group of conserved DNA-binding proteins involved in controlling transcription. NFIA functions by binding to specific DNA sequences called NFIA recognition elements in gene promoters, influencing gene activity through interactions with co-regulators and chromatin-modifying enzymes.

NFKBIE (NF-Kappa-B Inhibitor Epsilon):NFKBIE is a gene that encodes a key regulator of the NF-kappa-B pathway, which plays an important role in immune responses, inflammation, and cell survival. It functions by inhibiting NF-kappa-B activity, helping to control the expression of genes involved in immune and inflammatory processes. Dysregulation of NFKBIE has been associated with autoimmune diseases, chronic inflammation, and cancer, emphasizing its role in immune regulation and disease development.

NKX2-1, also known as thyroid transcription factor 1 (TTF-1) is a transcription factor that regulates gene expression by binding to specific DNA sequences. A member of the NKX family of homeodomain-containing proteins, it plays a key role in the development and function of the thyroid, lung, and brain. In the thyroid, NKX2-1 is expressed during embryonic development and is essential for the formation and differentiation of thyroid follicular cells.

NQO1 (NAD(P)H Quinone Dehydrogenase 1): NQO1 is an enzyme that helps protect cells from oxidative stress by converting quinones into less reactive hydroquinones. This process reduces the formation of harmful reactive oxygen species and supports cellular redox balance. Variations in the NQO1 gene have been associated with cancer risk and increased sensitivity to certain toxins, highlighting its role in detoxification and cellular defense.

NR3C2, also known as Nuclear Receptor Subfamily 3 Group C Member 2 or mineralocorticoid receptor (MR), is a nuclear receptor protein that plays a key role in regulating electrolyte balance and blood pressure. It acts as a ligand-activated transcription factor primarily found in the cytoplasm of target cells. Upon binding to mineralocorticoid hormones like aldosterone, NR3C2 undergoes a conformational change and moves into the nucleus to mediate its effects. Its main function includes regulating sodium and potassium ion transport in the kidney, colon, and salivary glands.

NTM (Neurotrimin): NTM is a neural cell adhesion molecule involved in the formation of neural networks. It plays a key role in neural development, particularly in neurite outgrowth and synaptic plasticity. Research into NTM helps to better understand neural development mechanisms and its potential links to neurodevelopmental disorders.

OR2B6 is a gene that encodes a protein belonging to the olfactory receptor (OR) family, which is involved in detecting and recognizing odor molecules. These receptors are located on the surface of olfactory sensory neurons in the nasal cavity and play a key role in initiating olfactory signal transduction. OR2B6 specifically binds to certain odor molecules, triggering signals that are ultimately transmitted to the brain for odor perception.

OR2M3 (Olfactory Receptor, Family 2, Subfamily M, Member 3): OR2M3 is a gene that belongs to the large olfactory receptor family, which is responsible for the sense of smell. These receptors detect volatile odor molecules and are highly diverse, enabling the perception of many different scents. OR2M3 is expressed in the olfactory epithelium of the nose and plays a key role in odor detection and signal transmission to the brain. Research on OR2M3 and related receptors helps deepen our understanding of smell and has potential applications in flavor science and sensory biology.

PAX1 (Paired Box 1): PAX1 is a key regulatory gene involved in the development of the spine and thoracic cage. It plays a crucial role in skeletal formation, and mutations in PAX1 can result in congenital spinal and skeletal malformations.

PAX5, also known as Paired Box 5, is a transcription factor that plays a key role in B-cell development and differentiation. It belongs to the PAX family of transcription factors, which are defined by a conserved paired box domain involved in DNA binding and protein interactions. PAX5 is essential for specifying B-cell lineage commitment during hematopoiesis and is expressed in progenitor cells destined to become B cells, supporting their development from hematopoietic stem cells.

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP is a protein that reflects the balance and regulation of key cellular processes. Also known as ALIX, it is involved in endocytosis, membrane repair, and cell death pathways. PDCD6IP plays a critical role in multivesicular body formation and the budding of enveloped viruses, such as HIV. Dysfunctions in PDCD6IP are associated with neurodegenerative diseases and cancer, underscoring its importance in autophagy, apoptosis, and overall cellular homeostasis.

PDZD2 (PDZ Domain Containing 2): PDZD2 is a multi-PDZ domain protein that helps organize protein complexes at the cell membrane, supporting signal transduction and cellular communication. It is involved in various cellular functions, including synaptic signaling in neurons, and its dysregulation may be associated with neurological disorders.

PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 is a gene that encodes a protein containing pleckstrin homology and RhoGEF domains. These domains suggest the protein plays a role in signaling pathways involved in cell morphology, cytoskeletal organization, and cellular migration. While its precise functions are still under study, PLEKHG1 is believed to contribute to the regulation of cytoskeletal dynamics and cell motility.

PLPPR4 (Phospholipid Phosphatase-Related Protein 4): PLPPR4 is a gene involved in phospholipid metabolism and signaling pathways. Phospholipids are key components of cell membranes and participate in various cellular functions such as signaling and membrane dynamics. PLPPR4 may help regulate specific phospholipid levels, potentially affecting cell function and membrane properties.

POGZ (Pogo Transposable Element Derived with ZNF Domain): POGZ is a protein featuring zinc finger domains that plays a key role in chromatin remodeling and gene regulation. It is essential for shaping chromatin structure and controlling gene expression. Mutations in POGZ are associated with neurodevelopmental disorders, highlighting its importance in brain development and function.

PRB2 (Proline-Rich Protein BstNI Subfamily 2): PRB2 is a protein involved in oral and salivary biology. It plays a key role in the formation of the dental pellicle and the defense of the oral mucosa. As part of the proline-rich protein family, PRB2 is important for maintaining oral health and protecting against dental caries and other oral diseases.

PRDM16 (PR Domain Containing 16): PRDM16 is a transcription factor that plays a key role in regulating the differentiation of brown adipocytes and activating thermogenesis. It is essential for controlling energy expenditure and metabolic health. As a central player in managing the body’s energy balance, PRDM16 holds significant potential in advancing our understanding of metabolism and addressing obesity.

PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in cellular energy regulation. It plays a role in sensing cellular energy status and activating pathways that help restore energy balance.

PROX1 (Prospero Homeobox 1): PROX1 is a transcription factor that regulates gene expression and is involved in key developmental processes. It plays a central role in lymphatic vessel formation, liver development, and cell fate determination. In the lymphatic system, PROX1 acts as a master regulator of lymphatic endothelial cell differentiation and maintenance.

PRR11 (Proline Rich 11): PRR11 is a gene that has been recently identified, with functions that are not yet fully understood. It is believed to play a role in cell cycle regulation and has been linked to cancer biology, particularly in processes such as cell proliferation and tumor growth.

PRSS3 (Protease, Serine 3): PRSS3 is an enzyme, also known as mesotrypsin, that reflects the activity of a serine protease involved in protein digestion and the breakdown of extracellular matrix components. It plays roles in pancreatic function and has been studied in cancer, as abnormal PRSS3 expression or activity may contribute to tumor invasion and metastasis.

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.

PTPN7 (Protein Tyrosine Phosphatase, Non-Receptor Type 7): PTPN7 is an enzyme involved in cell signaling, particularly within the immune system. It plays a key role in regulating T-cell activation and differentiation, thereby influencing immune responses. Dysregulation of PTPN7 can contribute to immune-related disorders and may have implications in autoimmune diseases and cancer due to its effects on cell signaling pathways.

RSU1 (Ras Suppressor Protein 1): RSU1 is a protein that interacts with key signaling molecules, including Ras. It plays an important role in regulating cell adhesion and motility, contributing to various cell signaling pathways. RSU1 may also have implications in cancer progression and metastasis.

SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene that plays a key role in mitochondrial biology. It is an essential part of the mitochondrial protein import and assembly machinery, ensuring proper localization and function of proteins within the mitochondria. By supporting these processes, SAMM50 is crucial for cellular energy production and overall mitochondrial function.

SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha): SCNN1A is a gene that encodes the alpha subunit of the epithelial sodium channel (ENaC), which regulates sodium balance and fluid homeostasis in tissues such as the lungs, kidneys, and colon. This subunit is essential for ENaC’s assembly, localization, and function, enabling sodium absorption that supports blood pressure, fluid volume, and electrolyte balance. Mutations in SCNN1A can alter channel activity and are linked to conditions such as pseudohypoaldosteronism type 1 (PHA1), a disorder affecting salt regulation.

SERPINE2 (Serpin Family E Member 2): SERPINE2 is a serine protease inhibitor, also known as protease nexin-1, that plays a key role in regulating proteolytic pathways in the body. It is involved in tissue remodeling, fibrinolysis, and neuronal growth, and helps inhibit enzymes such as thrombin and urokinase-type plasminogen activator, which are important for blood clotting and tissue repair. Dysregulation of SERPINE2 has been linked to cardiovascular and neurological disorders, highlighting its importance in maintaining tissue integrity and function.

SETD7 (SET Domain Containing 7, Lysine Methyltransferase): SETD7 is a gene involved in epigenetic regulation, encoding an enzyme that methylates histone proteins. This modification plays a key role in controlling gene expression. Dysregulation of SETD7 activity has been linked to various diseases, including cancer and cardiovascular disorders.

SH2B3 (SH2B Adaptor Protein 3): SH2B3 (SH2B Adaptor Protein 3) is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a key role in maintaining hematopoietic stem cell homeostasis and controlling immune responses. Mutations in SH2B3 are linked to various hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, highlighting its importance in blood cell development and immune regulation.

SOS2 (Son of Sevenless Homolog 2): SOS2 is a protein involved in cell signaling and the activation of the Ras/MAPK pathway. It plays a key role as a mediator in cellular responses to growth factors, cytokines, and extracellular signals, contributing to diverse physiological processes and cellular functions.

SOX2, short for SRY (Sex Determining Region Y)-Box 2, is a key transcription factor involved in embryonic development, stem cell pluripotency, and tissue homeostasis. Located mainly in the cell nucleus, SOX2 regulates gene expression by binding to specific DNA sequences and controlling target gene activity. It plays a major role in maintaining stem cell pluripotency and self-renewal, working alongside other transcription factors like OCT4 and NANOG to form a core network that preserves the undifferentiated state of embryonic stem cells.

SUOX (Sulfite Oxidase): SUOX encodes an enzyme essential for the metabolism of sulfur-containing amino acids. It catalyzes the final step in breaking down cysteine and methionine by converting sulfite into sulfate, which is then excreted in the urine. Proper SUOX activity prevents sulfite buildup, which can cause neurological damage and physical abnormalities known as sulfite oxidase deficiency, underscoring the enzyme’s critical role in amino acid metabolism and neurotoxicity prevention.

TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signaling pathway, which plays an important role in cell growth and development. Variants in this gene have been strongly linked to an increased risk of type 2 diabetes, likely through their impact on insulin secretion and glucose metabolism. Understanding TCF7L2 is essential for uncovering the genetic basis of diabetes and advancing potential treatments.

TEF (Thyrotrophic Embryonic Factor): TEF is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family. TEF plays a key role in regulating the circadian rhythm and controlling the expression of clock-dependent genes. It is essential for maintaining daily physiological cycles, including metabolism and hormone secretion. Dysregulation of TEF can affect circadian rhythm-related disorders and metabolic health, highlighting its importance in synchronizing biological processes with the environmental light-dark cycle.

TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA. This activity plays a key role in active DNA demethylation, which is essential for regulating gene expression, guiding cellular differentiation, and maintaining genomic stability. Mutations in TET2 are frequently observed in hematological malignancies, including myelodysplastic syndromes and acute myeloid leukemia, highlighting its role in epigenetic regulation and cancer development.

Tex26 (Testis Expressed 26): Tex26 is a gene primarily expressed in the testis and is thought to be involved in testicular function and development. While its specific functions are not yet fully understood, Tex26 is considered important in reproductive biology and may have relevance in fertility-related research.

TFRC (Transferrin Receptor): TFRC is a measure that reflects the activity of a key protein responsible for iron homeostasis in the body. TFRC mediates the uptake of transferrin-bound iron into cells and is essential for erythropoiesis. It is also widely used as a marker of cellular proliferation, with dysregulation linked to conditions such as anemia and cancer.

TMEM243 (Transmembrane Protein 243): TMEM243 is a gene that encodes a transmembrane protein whose function is not yet well characterized. Like many proteins of this type, it may play a role in cellular signaling or transport processes.

TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme that catalyzes the methylation of cytosine at position 38 in tRNA molecules. This modification, known as 5-methylcytosine (m5C), is important for tRNA stability, proper folding, and accurate codon recognition during protein synthesis. TRDMT1-mediated methylation supports key cellular processes such as gene expression regulation and stress responses. Dysregulation of TRDMT1 activity has been linked to diseases including cancer and neurodegenerative disorders.

TUSC1 (Tumor Suppressor Candidate 1): TUSC1 is a gene believed to function as a tumor suppressor, playing a role in controlling cell growth and promoting apoptosis. Reduced expression of TUSC1 has been observed in various cancers, supporting its potential protective role against cancer development.

UTP20 (UTP20, Small Subunit Processome Component): UTP20 is a protein involved in the processing and assembly of 18S rRNA, an essential part of the small ribosomal subunit. It plays a key role in ribosome biogenesis, which is critical for protein synthesis. Dysfunction in UTP20 can impact cell growth and proliferation, with potential links to developmental disorders and cancer.

XYLT1 (Xylosyltransferase 1): XYLT1 is an enzyme involved in the biosynthesis of proteoglycans, which are important components of the extracellular matrix. It adds xylose to specific serine residues in proteoglycans, a crucial step in the formation of connective tissues. Mutations in XYLT1 can lead to skeletal and connective tissue disorders, highlighting its role in tissue development and maintenance.