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ERI1 (Exoribonuclease 1): ERI1 is a crucial enzyme involved in RNA interference and the regulation of small RNA stability. It plays an essential role in degrading RNA duplexes and resolving RNA-induced silencing complexes (RISCs), which are key to gene silencing. ERI1’s function influences gene expression and cellular defense against viruses. Research on ERI1 investigates its role in post-transcriptional regulation and its potential importance in antiviral responses and cancer.

ERI1

EGFLAM (EGF-Like, Fibronectin Type III and Laminin G Domain Containing): EGFLAM is a gene that encodes a protein containing domains commonly found in extracellular matrix proteins. These domains imply functions in cell adhesion, signaling, and tissue development. Although the exact functions of EGFLAM are still under investigation, it is believed to play a key role in supporting cellular communication and structural organization.

EGFLAM

FLG (Filaggrin) is a gene that encodes a protein crucial for maintaining the skin’s protective barrier. Proper FLG function helps retain moisture and protect against environmental irritants. Mutations in FLG are associated with atopic dermatitis (eczema) and can increase susceptibility to other allergic conditions.

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

UNC119B (UNC-119 Homolog B) is a gene involved in transporting proteins to cilia—specialized cellular structures critical for signaling and sensory functions. It plays a crucial role in the development and maintenance of photoreceptor cells in the retina. Disruption of UNC119B function can impair ciliary activity and may contribute to retinal disorders and vision loss.

UNC119B

MTCH2 (Mitochondrial Carrier Homolog 2): MTCH2 is a gene that encodes a protein involved in mitochondrial function and energy metabolism. It is believed to play a role in mitochondrial transport and metabolic processes. Although its precise functions are still under investigation, MTCH2 may affect cellular energy balance and metabolic health.

MTCH2

LRRN2 (Leucine Rich Repeat Neuronal 2): LRRN2 is part of the leucine-rich repeat protein family, which is involved in protein-protein interactions. LRRN2 plays key roles in cell adhesion, signaling, and neuronal development. It is expressed in various regions of the brain and is thought to contribute to the formation of neural circuits and synaptic differentiation. Its role in neural development and plasticity indicates a potential involvement in neurological disorders, although its specific functions are still under investigation.

LRRN2

DNAJB4 (DnaJ Heat Shock Protein Family (Hsp40) Member B4) is a co-chaperone protein that assists in the proper folding, degradation, and assembly of other proteins within the cell. It plays a crucial role in managing cellular stress responses, particularly during heat shock, helping to maintain cellular homeostasis and protect cells from stress-induced damage.

DNAJB4

GNPDA2 (Glucosamine-6-Phosphate Deaminase 2): GNPDA2 is a gene involved in glucose metabolism and blood sugar regulation. It plays a role in converting glucosamine-6-phosphate into fructose-6-phosphate, an essential step in glucose utilization. Variations in GNPDA2 have been associated with the risk of type 2 diabetes and the regulation of glucose balance.

GNPDA2

GAL (Galactose Alpha-1,3-Galactosyltransferase): GAL is an enzyme responsible for producing the alpha-gal epitope, a specific carbohydrate antigen. This enzyme plays a key role in immune response and xenotransplantation, as the presence of alpha-gal can trigger immune rejection. Humans lack this enzyme, which leads to the formation of anti-Gal antibodies.

IGF1R (Insulin-like Growth Factor 1 Receptor) is a gene that encodes a receptor responsible for mediating the effects of insulin-like growth factors. It plays a critical role in regulating cell growth, survival, and metabolism. Dysregulation of IGF1R has been associated with various diseases, underscoring its significance in both developmental biology and clinical research.

IGF1R

SLC26A8 (Solute Carrier Family 26 Member 8) is a gene that encodes a transporter protein primarily found in the testes. It plays a crucial role in anion transport and is vital for sperm motility and male fertility, supporting proper sperm function and reproductive health.

SLC26A8

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

COPB2

CTDSPL2 (CTD Small Phosphatase Like 2) is a protein involved in regulating gene expression by modulating RNA polymerase II activity through dephosphorylation. This process impacts transcriptional and post-transcriptional control, influencing cell cycle progression and differentiation. While its exact functions are still under investigation, CTDSPL2 plays a key role in regulating cellular growth and may be associated with disease processes such as cancer.

CTDSPL2

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 linked to various pathological conditions, including fibrosis and cancer.

THBS3

DKK1 (Dickkopf-1) is a secreted protein that acts as an inhibitor of the Wnt signaling pathway, which plays a crucial role in regulating cell growth, development, and bone formation. By blocking Wnt interaction with its receptors, DKK1 affects processes such as cell differentiation, proliferation, and bone density. Its activity is associated with conditions like osteoporosis and various cancers, making it a potential target for therapeutic approaches.

DKK1

ADGRG6 (Adhesion G Protein-Coupled Receptor G6) is a receptor involved in cell adhesion and signal transduction. It plays a crucial role in key developmental processes, including the myelination of peripheral nerves and heart development. Variations in ADGRG6 have been associated with developmental abnormalities, particularly affecting the nervous and cardiovascular systems.

ADGRG6

VPS35L (VPS35 Retromer Complex Component Like): VPS35L is a protein that plays a role in the retromer complex, a crucial part of the endosomal transport system. It aids in recycling membrane proteins from endosomes back to the Golgi apparatus or plasma membrane. Although it has been studied less extensively than VPS35, VPS35L is believed to be involved in protein sorting and trafficking, helping to maintain cellular homeostasis and signaling.

VPS35L

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

CYP19A1, also known as aromatase, is an enzyme that enables the conversion of androgens (such as testosterone) into estrogens (such as estradiol). This enzyme plays a crucial role in estrogen biosynthesis, which is vital for sexual development, reproduction, bone metabolism, and cardiovascular health. CYP19A1 is expressed in various tissues, including the ovaries, testes, placenta, adipose tissue, and brain. In females, it primarily produces estrogen in the ovaries by converting androgens from the adrenal glands.

CYP19A1

DIO3, or Type 3 Deiodinase, is a crucial enzyme that helps regulate thyroid hormone activity in the body. Primarily located in tissues such as the liver, brain, and placenta, DIO3 manages thyroid hormone levels by converting active hormones into inactive forms. This process helps fine-tune hormone signaling in specific tissues, ensuring proper metabolic control and maintaining balanced thyroid function.

DIO3

XKR9 (X-Kell Blood Group Precursor-Related Family Member 9) is a gene that is part of the X-Kell blood group precursor-related family. Although its exact functions are not yet fully understood, ongoing research is exploring its possible roles in cell membrane dynamics and various physiological processes.

XKR9

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

AKNA (AT-Hook Transcription Factor) is a gene that encodes a transcription factor involved in regulating immune function, especially in lymphoid cell development. It helps manage the expression of genes related to cell growth and differentiation. Dysregulation of AKNA has been associated with autoimmune diseases and lymphomas, underscoring its role in immune regulation and cancer.

AKNA

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, particularly in autoimmune diseases and immune responses. Its expression on T cells and other immune cells is crucial for modulating the immune system’s activity.

CD101

SLC1A1

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

HMX3

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

RMI2 (RecQ Mediated Genome Instability 2): RMI2 is a protein that plays a crucial 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 key factor in cancer development and progression.

RMI2

SPINT2 (Serine Peptidase Inhibitor, Kunitz Type 2) is a gene that encodes a serine protease inhibitor involved in regulating key cellular processes such as growth, migration, and invasion. Also known as HAI-2, SPINT2 helps control proteolytic activity—particularly by inhibiting matriptase, a protease important for epithelial integrity and signaling. Disruption of SPINT2 function has been linked to tumor development and progression, underscoring its role in maintaining tissue homeostasis and cancer suppression.

SPINT2

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 found in acute myeloid leukemia (AML) and are associated with poor prognosis. Targeting FLT3 with inhibitors is a therapeutic strategy used to treat AML and other blood cancers with FLT3 mutations.

FLT3

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

SOD3

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

IGLV4-60

SPP1 (Secreted Phosphoprotein 1) is a gene that encodes osteopontin, a protein involved in bone remodeling, immune regulation, and tissue repair. It plays a role in inflammatory processes and has been associated with conditions such as autoimmune disorders and cancer.

SPP1

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

ALPK1

BMP2 (Bone Morphogenetic Protein 2): BMP2 is a member of the TGF-beta superfamily, recognized for its vital roles in bone and cartilage development. It supports bone formation and regeneration, making it a crucial factor in maintaining skeletal health. Dysregulation of BMP2 signaling has been associated with skeletal disorders and cardiovascular disease, underscoring its significance in regenerative medicine and tissue engineering.

BMP2

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 crucial for B cell activation and differentiation. As a scaffold protein, BANK1 facilitates the assembly of signaling complexes after BCR engagement by interacting with various molecules such as kinases, phosphatases, and adapter proteins, thereby modulating downstream signaling pathways.

BANK1

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 linked to an increased risk of type 2 diabetes and disrupted sleep patterns.

MTNR1B

EIF3M (Eukaryotic Translation Initiation Factor 3 Subunit M): EIF3M is a component of the eukaryotic translation initiation factor 3 (eIF3) complex, which is crucial for protein synthesis. EIF3M plays a vital role in the initiation stage of translation and is important for overall protein production within cells. Alterations in EIF3M can impact cellular growth and proliferation.

EIF3M

UST (Uronyl 2-Sulfotransferase) is an enzyme involved in the sulfation of proteoglycans, essential components of the extracellular matrix. It plays a crucial role in biological processes such as cell signaling and tissue repair. Dysregulation of UST activity can impact connective tissue function and may be associated with disorders involving the extracellular matrix.

KCNIP4, also known as Kv channel-interacting protein 4, is part of the Kv channel-interacting protein (KCNIP) family, also referred to as Kv channel regulatory proteins (KCHIPs). These proteins associate with voltage-gated potassium (Kv) channels and play a crucial 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 affects their gating kinetics, voltage sensitivity, and membrane trafficking.

KCNIP4

MYH11 (Myosin Heavy Chain 11): MYH11 is a gene that encodes a smooth muscle myosin heavy chain, a critical component of the contractile apparatus in smooth muscle cells. This protein is essential for smooth muscle contraction and relaxation, supporting important functions such as vascular regulation, gastrointestinal motility, and respiratory function. MYH11 helps maintain the structure and function of smooth muscle tissues throughout the body. Variations or mutations in this gene can lead to vascular conditions, including thoracic aortic aneurysms and dissections.

MYH11

DCDC2 (Doublecortin Domain Containing 2): DCDC2 is a gene involved in neuronal migration and differentiation, particularly during brain development. It plays a crucial role in cognitive processing and language development and has been associated with dyslexia and other learning disabilities.

DCDC2

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

CAMKMT

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 certain psychiatric medications.

GSK3B

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

COPS9

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

EXD3

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 characterized by reduced sensitivity to thyroid hormones, affecting metabolic functions and growth.

THRB

ALDH2 (Aldehyde Dehydrogenase 2 Family Member): ALDH2 is an enzyme crucial for alcohol metabolism, converting acetaldehyde into acetic acid. Variants of ALDH2, particularly common in East Asian populations, can cause alcohol intolerance and are associated with an increased risk of certain cancers and cardiovascular diseases.

ALDH2

EHD3 (EH-Domain Containing 3): EHD3 is a member of the EHD protein family involved in endocytic recycling. It plays a crucial 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 vital for cardiovascular health, and its dysregulation has been associated with heart diseases, highlighting its importance in cardiac muscle cell function.

EHD3

FCHO2 (FCH Domain Only 2): FCHO2 is a gene involved in clathrin-mediated endocytosis, a crucial process for internalizing substances from the cell surface. It contributes to vesicle formation and intracellular trafficking. Dysregulation of FCHO2 can affect cellular uptake and lead to various cellular dysfunctions.

FCHO2

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

NECTIN2 (Nectin Cell Adhesion Molecule 2): NECTIN2, also known as CD112, is a transmembrane protein from the nectin family that facilitates cell-to-cell adhesion. It is primarily found in epithelial and neuronal tissues and interacts with other nectins and receptors such as DNAM-1 (CD226), CD96, and TIGIT. NECTIN2 is crucial in the formation and maintenance of adherens junctions and synaptic connections, impacting cell migration, polarization, and synaptic transmission.

NECTIN2

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

URAD

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

SLC38A11

FBXO21 (F-Box Protein 21): FBXO21 is a gene that encodes a protein from the F-box family, which plays a crucial role in the ubiquitin-proteasome system responsible for protein degradation. It is involved in regulating key cellular processes such as the cell cycle and signal transduction. Dysregulation of FBXO21 can impact protein homeostasis and is significant in diseases marked by impaired protein turnover, including neurodegenerative disorders and cancers.

FBXO21

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

FOXP1

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

UBE2G1

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

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

STMN3

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

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 crucial role in tissue organization and maintaining barrier function. Mutations in PARD3B can lead to developmental disorders that affect tissue structure and integrity.

PARD3B

FOXK1 (Forkhead Box K1): FOXK1 is a transcription factor that regulates genes involved in cell growth, proliferation, and differentiation. It plays key roles in muscle development and contributes to metabolic regulation.

FOXK1

UCP3 (Uncoupling Protein 3): UCP3 is a mitochondrial protein that contributes to thermogenesis and energy balance. It plays a role in regulating body weight and metabolism, and its activity can influence the risk of obesity and metabolic disorders.

UCP3

GLRX3 (Glutaredoxin 3): GLRX3 is a protein from the glutaredoxin family that helps maintain the cell’s redox balance by catalyzing the reversible oxidation and reduction of protein disulfide bonds. This function is crucial for protecting cells from oxidative stress, which can cause cellular damage and contribute to diseases such as cancer, cardiovascular disease, and neurodegenerative disorders. GLRX3 also affects key cellular signaling pathways that respond to redox changes, highlighting its essential role in cellular health and stress responses.

GLRX3

PHKB (Phosphorylase Kinase Beta): PHKB is a component of the glycogenolysis pathway, essential for breaking down glycogen. It functions as 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 type IX, affecting liver and muscle function.

PHKB

LIN28B is a highly conserved RNA-binding protein that regulates key cellular processes such as stem cell maintenance, development, metabolism, and oncogenesis. A member of the LIN28 family alongside LIN28A, it modulates gene expression at the post-transcriptional level by binding specific mRNA targets. LIN28B primarily functions as a translational repressor, blocking ribosome recruitment, and can also influence mRNA stability and processing through interactions with other RNA-binding proteins and microRNAs (miRNAs).

LIN28B

SLC45A1 (Solute Carrier Family 45 Member 1): SLC45A1 is a transporter protein that helps move sugars and other molecules across cell membranes. It plays a role in metabolic processes, and when it malfunctions, it can disturb the balance of cellular energy and overall metabolism.

SLC45A1

ST20 (Suppressor Of Tumorigenicity 20): ST20, also known as MINK1, is a protein belonging to the germinal center kinase (GCK) family. It plays a role in key cellular processes such as apoptosis, cytoskeletal reorganization, and cell migration, and is involved in signaling pathways that regulate cell survival and proliferation. Its function in tumor development and potential as a tumor suppressor remain active areas of research, with significant implications for cancer biology and treatment.

ST20

MRM2 (Mitochondrial Ribosomal Protein MRP-L23): MRM2 is a gene that encodes a crucial component of the mitochondrial ribosome—the cellular machinery responsible for producing proteins within mitochondria. These proteins are essential for mitochondrial function and energy production. The role of MRM2 in mitochondrial protein synthesis is vital for maintaining proper cellular energy metabolism and overall organelle health.

MRM2

GNGT2 (Guanine nucleotide-binding protein G(t) subunit gamma-T2) is a protein subunit of the transducin complex in photoreceptor cells of the retina. It plays a crucial role in phototransduction — the process that converts light signals into electrical impulses for the brain to interpret. By interacting with light-sensitive opsins, GNGT2 helps initiate the molecular changes essential for vision.

GNGT2

PAM (Peptidylglycine Alpha-Amidating Monooxygenase): PAM is an enzyme that catalyzes the amidation of peptide hormones — a crucial step in the maturation of neuropeptides and peptide hormones. This process is vital for proper neurotransmitter synthesis and hormone activity. Dysregulation of PAM can impact neuropeptide function and disrupt hormonal signaling.

TYK2 (Tyrosine Kinase 2): TYK2 is a gene that encodes a tyrosine kinase enzyme involved in signaling pathways activated by various cytokines, including interferons and interleukins. It plays a key role in regulating immune responses and controlling inflammation.

TYK2

VWA2 (Von Willebrand Factor A Domain Containing 2): VWA2 is a protein involved in organizing the extracellular matrix (ECM) and supporting cell–matrix adhesion. It contains a Von Willebrand factor type A domain, which is commonly associated with protein–protein interactions. VWA2 plays a key role in tissue development, repair, and ECM stability, making it essential for maintaining proper tissue structure and potentially important for wound healing and conditions involving ECM dysregulation.

VWA2

APOB (Apolipoprotein B): APOB is a critical protein component of low-density lipoproteins (LDL), which carry cholesterol through the bloodstream. It primarily exists in two forms — APOB-48 and APOB-100, with APOB-100 being essential for the structure of LDL and its ability to bind to LDL receptors, facilitating cholesterol uptake by cells. Elevated levels of APOB-containing lipoproteins are associated with a higher risk of atherosclerosis and cardiovascular disease due to plaque accumulation in the arteries.

APOB

CLMP (CXADR Like Membrane Protein): CLMP is a protein involved in cell adhesion that plays a crucial role in maintaining the integrity of tight junctions in epithelial cells. It is essential for the proper development of the gastrointestinal tract, and mutations in CLMP have been associated with congenital short bowel syndrome, a rare and severe developmental disorder.

CLMP

VIPR1 (Vasoactive Intestinal Peptide Receptor 1): VIPR1 is a receptor that binds to vasoactive intestinal peptide (VIP), a neuropeptide involved in various physiological processes such as smooth muscle relaxation, immune system regulation, and water and ion transport in the lungs. It also plays a role in regulating the circadian rhythm and is associated with conditions including asthma and pulmonary hypertension.

VIPR1

MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1): MFHAS1 is a gene, also known as MASL1, involved in immune regulation and inflammatory processes. It has been associated with malignant fibrous histiocytoma, a rare type of cancer, and is believed to play a role in tumor development and the modulation of immune responses.

MFHAS1

GHRL (Ghrelin): GHRL is a gene that encodes ghrelin, a peptide hormone commonly known as the “hunger hormone.” Ghrelin targets the hypothalamus to stimulate appetite and increase food consumption. It plays a crucial role in starting meals and regulating body weight.

GHRL

SNX11 (Sorting Nexin 11): SNX11 is a gene that encodes a protein involved in membrane trafficking and vesicle sorting within cells. It plays a key role in endosomal and lysosomal functions, supporting processes such as receptor recycling and degradation.

SNX11

GOLT1A (Golgi transport 1A protein) is a member of the Golgi transport family that plays a role in regulating vesicular trafficking within cells, particularly in the Golgi apparatus. The Golgi apparatus is a key organelle responsible for processing, sorting, and modifying proteins and lipids from the endoplasmic reticulum (ER) before directing them to their final destinations. Although specific information on GOLT1A is limited, proteins in this family generally help mediate the movement of cargo vesicles between Golgi compartments and between the Golgi apparatus and other cellular locations.

GOLT1A

VAV3 (Vav Guanine Nucleotide Exchange Factor 3): VAV3 is a protein that acts as a guanine nucleotide exchange factor, involved in intracellular signaling pathways that control cell proliferation and cytoskeletal rearrangement. It plays a key role in immune cell activation and may be associated with immune responses and cancer development.

VAV3

SLC26A5 (Solute Carrier Family 26 Member 5, also known as Prestin): SLC26A5, also known as Prestin, is a motor protein located in the outer hair cells of the cochlea. It plays a vital role in sound amplification and hearing sensitivity by acting as a voltage-sensitive motor protein. Changes in SLC26A5 can lead to hearing impairment, making it a significant focus for research into the molecular mechanisms of hearing and potential treatments for hearing loss.

SLC26A5

USP47 (Ubiquitin Specific Peptidase 47): USP47 is an enzyme that removes ubiquitin from ubiquitinated proteins, helping regulate their degradation. It plays key roles in DNA repair, cell cycle control, and signal transduction by preserving protein stability. Dysregulation of USP47 has been linked to various cancers and other diseases, influencing processes like cell growth and programmed cell death.

USP47

GRIK2 (Glutamate Ionotropic Receptor Kainate Type Subunit 2): GRIK2 is a key subunit of kainate receptors, which are glutamate-gated ion channels involved in excitatory neurotransmission in the central nervous system. These receptors play an important role in synaptic transmission and plasticity, impacting learning, memory, and neural development. GRIK2 is essential for regulating neuronal excitability and has been linked to neurological disorders such as epilepsy, schizophrenia, and neurodegenerative diseases. Its role in modulating synaptic activity makes GRIK2 a potential target for therapies addressing conditions with disrupted glutamatergic signaling.

GRIK2

CRIPT (Cysteine-Rich PDZ-Binding Protein): CRIPT is a protein involved in synaptic assembly and function. It binds to a specific PDZ domain, helping localize certain proteins within cells, especially in the nervous system. CRIPT plays an important role in maintaining synaptic stability and supporting neuronal signaling.

CRIPT

SLITRK1 (SLIT and NTRK-Like Family Member 1): SLITRK1 is a gene that encodes a protein from the SLITRK family. This protein plays a key role in neuronal development and synaptic function. SLITRK1 is involved in processes such as neurite outgrowth and the formation and maintenance of neuronal connections.

SLITRK1

CRTC3 (CREB Regulated Transcription Coactivator 3): CRTC3 is a gene that encodes a coactivator protein involved in transcriptional regulation. It functions by interacting with CREB (cAMP response element-binding protein) to modulate gene expression in response to various signaling pathways. CRTC3 plays key roles in maintaining cellular energy balance, metabolism, and glucose homeostasis.

CRTC3

SLCO1B1, also known as Solute Carrier Organic Anion Transporter Family Member 1B1, is a membrane-bound transporter protein primarily located in the liver. It plays a key role in the uptake of various endogenous and exogenous compounds—including bile acids, hormones, drugs, and toxins—from the bloodstream into liver cells (hepatocytes). One of its main functions is facilitating the hepatic uptake of bile acids, which is essential for maintaining bile acid balance and bile production. By transporting bile acids across the sinusoidal membrane of hepatocytes, SLCO1B1 supports their clearance from the blood and incorporation into bile.

SLCO1B1

RBMS3 (RNA Binding Motif, Single-Stranded Interacting Protein 3): RBMS3 is a gene that encodes a protein involved in RNA binding and the regulation of gene expression. This protein plays important roles in cell adhesion and tissue development. Alterations in RBMS3 have been linked to various cancers, including gastric and lung cancer.

RBMS3

PDE2A (Phosphodiesterase 2A): PDE2A is an enzyme that regulates cellular signaling by breaking down the cyclic nucleotides cyclic AMP (cAMP) and cyclic GMP (cGMP). It plays important roles in processes such as smooth muscle contraction and cardiac function. PDE2A inhibitors are being studied for their potential use in treating heart diseases and related conditions.

PDE2A

SLC8A1 (Sodium/Calcium Exchanger 1): SLC8A1 is a membrane transport protein that regulates the balance between sodium (Na) and calcium (Ca) ions in cardiac and skeletal muscle cells, as well as neurons. This exchanger plays a crucial role in maintaining calcium homeostasis by removing calcium from cells in exchange for sodium. Its activity is essential for muscle relaxation, preventing calcium overload, supporting proper heart and muscle function, and influencing neuronal signaling and excitability.

SLC8A1

FRY (FRY Microtubule Binding Protein): FRY is a large protein involved in cell structure organization, particularly in relation to microtubules and cell polarity. It has roles in cellular processes such as migration and division, with implications for development and cancer. Research is focused on understanding FRY's function in normal cellular processes and its potential involvement in tumorigenesis and metastasis..

SLC30A8 (Solute Carrier Family 30 Member 8): SLC30A8 is a protein involved in zinc transport and insulin secretion from pancreatic beta cells. It plays a crucial role in maintaining glucose homeostasis and is considered a potential target for treating type 2 diabetes.

SLC30A8

SPATA7 (Spermatogenesis Associated 7): SPATA7 is a gene essential for the development of the eye and reproductive system. Mutations in SPATA7 are linked to retinal degenerative diseases such as Leber congenital amaurosis and retinitis pigmentosa, both of which cause progressive vision loss.

SPATA7

LINGO4 (Leucine Rich Repeat And Ig Domain Containing 4): LINGO4 is a protein that belongs to the LINGO family. It plays a role in neural development and regeneration. While its exact function is not yet fully understood, LINGO4 may be involved in neurodegenerative diseases and neural repair processes.

LINGO4

TP53 (Tumor Protein P53): TP53 is a gene that encodes the p53 protein, a crucial tumor suppressor involved in preventing the development of cancer. The p53 protein plays a central role in regulating cell cycle arrest, DNA repair, and apoptosis in response to DNA damage. Mutations in TP53 are associated with many types of cancer, underscoring its significance in cancer research and treatment.

TP53

SPATS2L (Spermatogenesis Associated Serine Rich 2-Like): SPATS2L is a gene associated with spermatogenesis, the process of sperm cell development. It may play a crucial role in male fertility, although further research is necessary to fully understand its function and significance.

SPATS2L

OR7A5 (Olfactory Receptor, Family 7, Subfamily A, Member 5): OR7A5 is a gene that codes for an olfactory receptor. Similar to OR7A17, these receptors are G protein-coupled receptors that help detect and differentiate a wide range of odors, playing a crucial role in the sense of smell.

MTMR7

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