| TTPA |
- |
|
|
Binds alpha-tocopherol and enhances its transfer between separate membranes.
|
View
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| DDC |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| SNF1LK2 |
- |
|
|
Phosphorylates Ser-794 of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TXNDC2 |
- |
|
|
Probably plays a regulatory role in sperm development. May participate in regulation of fibrous sheath (FS) assembly by supporting the …
|
View
|
| ANKRD37 |
- |
|
|
-
|
View
|
| NDST2 |
- |
|
|
Catalyzes the N-sulfation and N-deacetylation of glucosamine of the glycosaminoglycan in heparin sulfate. Plays a role in determining the extent …
|
View
|
| NINJ2 |
- |
|
|
Cell adhesion molecules mediate cell-to-cell and cell-to-extracellular matrix interactions during development, differentiation, and regeneration of the peripheral nervous system. NINJ2 …
|
View
|
| LRRN3 |
- |
|
|
-
|
View
|
| GPR144 |
- |
|
|
Orphan receptor.
|
View
|
| GFRA4 |
- |
|
|
The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface …
|
View
|
| ZNF549 |
- |
|
|
-
|
View
|
| ZNF2 |
- |
|
|
-
|
View
|
| ZNF6 |
- |
|
|
This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts …
|
View
|
| KRT23 |
- |
|
|
The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible …
|
View
|
| ILKAP |
- |
|
|
The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with …
|
View
|
| PSD2 |
- |
|
|
-
|
View
|
| APG4D |
- |
|
|
Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential …
|
View
|
| SEMA3B |
- |
|
|
The semaphorin/collapsin family of molecules plays a critical role in the guidance of growth cones during neuronal development. The secreted …
|
View
|
| SMCR8 |
- |
|
|
This gene encodes a protein of unknown function. It is located in the Smith-Magenis syndrome region on chromosome 17.
|
View
|
| UTRN |
- |
|
|
This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil …
|
View
|
| - |
- |
|
|
The protein encoded by this gene functions as a docking protein acting downstream of Tec tyrosine kinase in B cell …
|
View
|
| IL3RA |
- |
|
|
The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is …
|
View
|
| - |
- |
|
|
-
|
View
|
| FZD7 |
- |
|
|
Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein …
|
View
|
| FAM41AY |
- |
|
|
-
|
View
|
| NAB1 |
- |
|
|
Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2 (By similarity).
|
View
|
| DCLRE1B |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CHST8 |
- |
|
|
Catalyzes the transfer of sulfate to position 4 of non- reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required …
|
View
|
| HIST1H4PS1 |
- |
|
|
-
|
View
|
| TP53BP2 |
- |
|
|
Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions. Regulates TP53 by enhancing …
|
View
|
| GPR68 |
- |
|
|
High affinity receptor for sphingosylphosphorylcholine, coupled to G proteins that stimulate phosphoinositide hydrolysis.
|
View
|
| THRAP6 |
- |
|
|
-
|
View
|
| NBL1 |
- |
|
|
The protein encoded by this gene is a transcription factor that may function as an inhibitor or repressor in cell …
|
View
|
| TRAF6 |
- |
|
|
The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins …
|
View
|
| - |
- |
|
|
-
|
View
|
| GNG11 |
- |
|
|
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and …
|
View
|
| MFAP5 |
- |
|
|
This gene encodes a 25-kD microfibril-associated glycoprotein which is rich in serine and threonine residues. It lacks a hydrophobic carboxyl …
|
View
|
| MSR1 |
- |
|
|
This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF619 |
- |
|
|
-
|
View
|
| PCDHGA10 |
- |
|
|
This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome …
|
View
|
| PFDN5 |
- |
|
|
Prefoldin is a heterohexameric chaperone protein which assists in the correct folding of other proteins. It binds specifically to cytosolic …
|
View
|
| AIRE |
- |
|
|
The function of the protein encoded by this gene is not well defined, however it contains zinc finger motifs suggestive …
|
View
|
| NUP93 |
- |
|
|
Part of the nucleoporin complex; required for correct nuclear pore assembly.
|
View
|
| EIF2B2 |
- |
|
|
Eukaryotic initiation factor-2B (EIF2B) is a GTP exchange protein essential for protein synthesis. It consists of alpha (EIF2B1; MIM 606686), …
|
View
|
| SAMD8 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PCTK3 |
- |
|
|
May play a role in signal transduction cascades in terminally differentiated cells.
|
View
|
| FOXR1 |
- |
|
|
This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix …
|
View
|
| TIGD6 |
- |
|
|
The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. …
|
View
|
| SOX5 |
- |
|
|
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic …
|
View
|
| SLC13A4 |
- |
|
|
Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV).
|
View
|
| EXOSC2 |
- |
|
|
Belongs to the exosome, a RNA processing complex, which is at least involved in the 3'processing of the 7S pre-rRNA …
|
View
|
| PRODH |
- |
|
|
The protein encoded by this gene is a mitochondrial proline dehydrogenase which catalyzes the first step in proline catabolism. Deletion …
|
View
|
| KLK5 |
- |
|
|
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in …
|
View
|
| TOPBP1 |
- |
|
|
This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a …
|
View
|
| ZIM2 |
- |
|
|
-
|
View
|
| DCHS1 |
- |
|
|
This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has …
|
View
|
| ANGPTL4 |
- |
|
|
Peroxisome proliferator-activated receptor gamma is a nuclear receptor which regulates adipose differentiation and glucose homeostasis. It acts through ligand-dependent transcriptional …
|
View
|
| - |
- |
|
|
The ternary complex containing UFD1L, VCP and NPL4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| EIF3S2 |
- |
|
|
Binds to the 40S ribosome and promotes the binding of methionyl-tRNAi and mRNA.
|
View
|
| DNAJC5B |
- |
|
|
-
|
View
|
| LRRC5 |
- |
|
|
-
|
View
|
| PRKG1 |
- |
|
|
-
|
View
|
| TMEM51 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CACNA1D |
- |
|
|
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety …
|
View
|
| TNFRSF10D |
- |
|
|
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, …
|
View
|
| BLMH |
- |
|
|
Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of …
|
View
|
| F2RL1 |
- |
|
|
Coagulation factor II (thrombin) receptor-like 1 (F2RL1) is a member of the large family of 7-transmembrane-region receptors that couple to …
|
View
|
| SPOCK3 |
- |
|
|
Proteoglycans, which consist of a core protein and covalently linked glycosaminoglycans, are components of the extracellular matrix. SPOCK3 encodes a …
|
View
|
| - |
- |
|
|
-
|
View
|
| B4GALT2 |
- |
|
|
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive …
|
View
|
| - |
- |
|
|
-
|
View
|
| TRIM29 |
- |
|
|
The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a …
|
View
|
| GTPBP5 |
- |
|
|
-
|
View
|
| DNAH1 |
- |
|
|
-
|
View
|
| KLF8 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SAA3P |
- |
|
|
-
|
View
|
| TXNDC9 |
- |
|
|
The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is …
|
View
|
| PLCD3 |
- |
|
|
PLCD3 belongs to a large family of enzymes that catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate the second …
|
View
|
| - |
- |
|
|
-
|
View
|
| CNOT3 |
- |
|
|
The CCR4-NOT complex functions as general transcription regulation complex.
|
View
|
| NFKBIZ |
- |
|
|
This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the …
|
View
|
| PPP2R5C |
- |
|
|
The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of …
|
View
|
| S100A10 |
- |
|
|
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. …
|
View
|
| SNX4 |
- |
|
|
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which …
|
View
|
| RNF41 |
- |
|
|
The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins …
|
View
|
| TINF2 |
- |
|
|
Involved in the regulation of telomere length. Prevents excessive telomere elongation.
|
View
|
| SPATA4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CDC5L |
- |
|
|
The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell …
|
View
|
| - |
- |
|
|
Possible role in transport between endoplasmic reticulum and Golgi.
|
View
|
| SPATA18 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RASEF |
- |
|
|
-
|
View
|
| PLEKHM2 |
- |
|
|
-
|
View
|
| CSNK1E |
- |
|
|
The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein …
|
View
|
| DDO |
- |
|
|
The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. …
|
View
|
| - |
- |
|
|
-
|
View
|
| EFHC1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NEXN |
- |
|
|
-
|
View
|
| C9orf62 |
- |
|
|
-
|
View
|
| LYZL1 |
- |
|
|
-
|
View
|
| CYP11B1 |
- |
|
|
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
|
View
|
| SARS2 |
- |
|
|
-
|
View
|
| ECGF1 |
- |
|
|
Platelet-derived endothelial cell growth factor (ECGF1) is an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro …
|
View
|
| MAGEF1 |
- |
|
|
This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor …
|
View
|
| DND1 |
- |
|
|
May play a role during primordial germ cell (PGC) development. However, does not seem to be essential for PGC migration …
|
View
|
| CUBN |
- |
|
|
Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| H2AFZ |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist …
|
View
|
| EGF |
- |
|
|
Epidermal growth factor has a profound effect on the differentiation of specific cells in vivo and is a potent mitogenic …
|
View
|
| C20orf174 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CAMK1D |
- |
|
|
This gene encodes a member of the Ca2+/calmodulin-dependent protein kinase 1 subfamily of serine/threonine kinases. The encoded protein may be …
|
View
|
| PRKCA |
- |
|
|
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and …
|
View
|
| - |
- |
|
|
-
|
View
|
| C1orf65 |
- |
|
|
-
|
View
|
| - |
- |
|
|
K6IRS3 belongs to a family of type II keratins that are specifically expressed in the inner root sheath of hair …
|
View
|
| PARK7 |
- |
|
|
Acts as positive regulator of androgen receptor- dependent transcription. May function as redox-sensitive chaperone and as sensor for oxidative stress. …
|
View
|
| C10orf108 |
- |
|
|
-
|
View
|
| ATP6V1D |
- |
|
|
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase …
|
View
|
| L3MBTL3 |
- |
|
|
-
|
View
|
| NIPSNAP3A |
- |
|
|
NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004).[supplied by OMIM]
|
View
|
| DNAH11 |
- |
|
|
This gene is a human homolog of rat DLP11 and a member of the dynein heavy chain family. It is …
|
View
|
| - |
- |
|
|
-
|
View
|
| NEIL3 |
- |
|
|
NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step …
|
View
|
| - |
- |
|
|
-
|
View
|
| RAD50 |
- |
|
|
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break …
|
View
|
| ZNF435 |
- |
|
|
May function as a transcription factor.
|
View
|
| CACYBP |
- |
|
|
The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent …
|
View
|
| FOXK2 |
- |
|
|
The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich …
|
View
|
| ARHGEF12 |
- |
|
|
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G …
|
View
|
| - |
- |
|
|
Palladin is a component of actin-containing microfilaments that control cell shape, adhesion, and contraction.[supplied by OMIM]
|
View
|
| PLDN |
- |
|
|
The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which …
|
View
|
| - |
- |
|
|
-
|
View
|
| BARHL1 |
- |
|
|
-
|
View
|
| IFNA17 |
- |
|
|
Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate …
|
View
|
| C6orf112 |
- |
|
|
-
|
View
|
| SRL |
- |
|
|
-
|
View
|
| CPA2 |
- |
|
|
Three different forms of human pancreatic procarboxypeptidase A have been isolated. The A1 and A2 forms are monomeric proteins with …
|
View
|
| CHRNB2 |
- |
|
|
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening …
|
View
|
| CDC2L1 |
- |
|
|
This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential …
|
View
|
| PAXIP1 |
- |
|
|
-
|
View
|
| ZDHHC21 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LHX5 |
- |
|
|
This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique …
|
View
|
| PGM3 |
- |
|
|
Interconverts GlcNAc-6-P and GlcNAc-1-P.
|
View
|
| SCN9A |
- |
|
|
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference …
|
View
|
| VSIG4 |
- |
|
|
-
|
View
|
| MAGEB4 |
- |
|
|
This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences …
|
View
|
| GREM2 |
- |
|
|
Bone morphogenic proteins (see BMP2, MIM 112261) are important for body patterning and morphogenesis. PRDC is one of several BMP …
|
View
|
| MUC15 |
- |
|
|
May play a role in the cell adhesion to the extracellular matrix.
|
View
|
| - |
- |
|
|
-
|
View
|
| RNF5 |
- |
|
|
The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein …
|
View
|
| - |
- |
|
|
-
|
View
|
| CHES1 |
- |
|
|
Checkpoint suppressor 1 is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HM13 |
- |
|
|
The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after …
|
View
|
| EFCBP2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C6orf10 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CTSE |
- |
|
|
The protein encoded by this gene is a gastric aspartyl protease that functions as a disulfide-linked homodimer. This protease, which …
|
View
|
| KRTAP4-5 |
- |
|
|
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate …
|
View
|
| - |
- |
|
|
-
|
View
|
| INSL4 |
- |
|
|
INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage …
|
View
|
| HSPB8 |
- |
|
|
Displays temperature-dependent chaperone activity. According to Ref.3 it acts as a Mn(2+)-dependent serine-threonine- specific protein kinase. We are not convinced …
|
View
|
| MAOA |
- |
|
|
This gene encodes monoamine oxidase A, an enzyme that degrades amine neurotransmitters, such as dopamine, norepinephrine, and serotonin. The protein …
|
View
|
| RFC1 |
- |
|
|
The protein encoded by this gene is the large subunit of replication factor C, which is a five subunit DNA …
|
View
|
| SYT13 |
- |
|
|
SYT13 belongs to the large synaptotagmin protein family. All synaptotagmins show type I membrane topology, with an extracellular N terminus, …
|
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| TAS2R3 |
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This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor …
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| FBXO16 |
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This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino …
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| PARD3 |
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PARD proteins, which were first identified in C. elegans, are essential for asymmetric cell division and polarized growth, whereas CDC42 …
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| CUGBP2 |
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| SENP5 |
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Involved in the release of sentrins (Potential).
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| RPS13 |
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Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
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| JMJD1B |
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| HCFC1 |
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Involved in control of the cell cycle. Upon lytic infection of permissive cells, the HSV transactivator protein VP16 associates with …
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| IFNG |
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| SV2C |
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| CLCN3 |
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Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and …
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| C10orf67 |
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