| CA3 |
- |
|
|
Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encode …
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| BAI2 |
- |
|
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BAI1, a p53-target gene, encodes brain-specific angiogenesis inhibitor, a seven-span transmembrane protein and is thought to be a member of …
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View
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| - |
- |
|
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-
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View
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| C20orf108 |
- |
|
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-
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View
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| TDO2 |
- |
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-
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| DCXR |
- |
|
|
DCXR is an enzyme that has both diacetyl reductase (EC 1.1.1.5) and L-xylulose reductase (EC 1.1.1.10) activities (Nakagawa et al., …
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View
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| ZDHHC9 |
- |
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-
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View
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| CXorf6 |
- |
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-
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| KIAA1553 |
- |
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-
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| VCX2 |
- |
|
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This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all …
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| COBL |
- |
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-
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| EYA2 |
- |
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This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified …
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View
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| C10orf13 |
- |
|
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-
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| CA9 |
- |
|
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Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate …
|
View
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| IER5L |
- |
|
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-
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| ACE |
- |
|
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This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. …
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| KL |
- |
|
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This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed …
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View
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| INS |
- |
|
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After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into two chains (peptide A and peptide B) that …
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View
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| ZNF678 |
- |
|
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-
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View
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| - |
- |
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-
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View
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| - |
- |
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-
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View
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| DDOST |
- |
|
|
Essential subunit of N-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide to an asparagine residue within …
|
View
|
| C6orf203 |
- |
|
|
-
|
View
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| - |
- |
|
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-
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View
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| EPHB4 |
- |
|
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Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures …
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| UBOX5 |
- |
|
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-
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View
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| TLR9 |
- |
|
|
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role …
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View
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| - |
- |
|
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-
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View
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| KIT |
- |
|
|
KIT encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline …
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View
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| - |
- |
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-
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View
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| SPRED1 |
- |
|
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SPRED1 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of …
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| - |
- |
|
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-
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View
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| - |
- |
|
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-
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View
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| DNMT2 |
- |
|
|
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have …
|
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|
| PCSK4 |
- |
|
|
-
|
View
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| CLSTN1 |
- |
|
|
May modulate calcium-mediated postsynaptic signals (By similarity).
|
View
|
| PCMT1 |
- |
|
|
Three classes of protein carboxyl methyltransferases, distinguished by their methyl-acceptor substrate specificity, have been found in prokaryotic and eukaryotic cells. …
|
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|
| VDAC2 |
- |
|
|
Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. The channel adopts an open …
|
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|
| LCN8 |
- |
|
|
May play a role in male fertility. May act as a retinoid carrier protein within the epididymis.
|
View
|
| ITPR3 |
- |
|
|
Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium.
|
View
|
| RSU1 |
- |
|
|
This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced …
|
View
|
| TP53RK |
- |
|
|
Protein kinase that phosphorylates Ser-15 of p53/TP53 protein and may therefore participate in its activation.
|
View
|
| - |
- |
|
|
-
|
View
|
| ARHGAP25 |
- |
|
|
GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state (By similarity).
|
View
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| - |
- |
|
|
-
|
View
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| MCP |
- |
|
|
The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement …
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|
| PPID |
- |
|
|
The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans …
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View
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| - |
- |
|
|
-
|
View
|
| FAAH |
- |
|
|
FAAH encodes the integral membrane enzyme fatty acid amide hydrolase. FAAH is responsible for the hydrolysis of a number of …
|
View
|
| ZNF100 |
- |
|
|
May be involved in transcriptional regulation.
|
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| CENTD2 |
- |
|
|
The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. In vitro, this protein …
|
View
|
| ZCCHC6 |
- |
|
|
-
|
View
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| TAS2R38 |
- |
|
|
-
|
View
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| HIST1H3I |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules …
|
View
|
| SKI |
- |
|
|
-
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View
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| UROD |
- |
|
|
This gene encodes the fifth enzyme of the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of …
|
View
|
| - |
- |
|
|
-
|
View
|
| FTH1 |
- |
|
|
This gene encodes the heavy subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes …
|
View
|
| - |
- |
|
|
-
|
View
|
| C17orf42 |
- |
|
|
-
|
View
|
| ZNF610 |
- |
|
|
-
|
View
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| PIGT |
- |
|
|
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many …
|
View
|
| EMB |
- |
|
|
May function as a regulator of cell/ECM interactions during development and in the homeostasis of normal adult tissues (By similarity).
|
View
|
| LPGAT1 |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| WHSC2 |
- |
|
|
This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% …
|
View
|
| FXR1 |
- |
|
|
The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. …
|
View
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| RNF175 |
- |
|
|
-
|
View
|
| KIF4A |
- |
|
|
Kinesins, such as KIF4A, are microtubule-based motor proteins that generate directional movement along microtubules. They are involved in many crucial …
|
View
|
| HIF1A |
- |
|
|
Hypoxia-inducible factor-1 (HIF1) is a transcription factor found in mammalian cells cultured under reduced oxygen tension that plays an essential …
|
View
|
| TNFRSF19 |
- |
|
|
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic …
|
View
|
| - |
- |
|
|
Required for the methylation step in diphthamide biosynthesis (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| KCNH1 |
- |
|
|
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNRF2 |
- |
|
|
-
|
View
|
| SLITL2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| EDIL3 |
- |
|
|
The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may …
|
View
|
| FAM44B |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| PRDM7 |
- |
|
|
The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and …
|
View
|
| GPR174 |
- |
|
|
Putative receptor for purines coupled to G-proteins (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| PRKAA1 |
- |
|
|
The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the …
|
View
|
| VAV2 |
- |
|
|
VAV2 is the second member of the VAV oncogene family. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 …
|
View
|
| LNX |
- |
|
|
E3 Ubiquitin ligase protein that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an …
|
View
|
| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
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| - |
- |
|
|
DISCONTINUED: LocusID 85488 was defined by the sequence AF264014.1 which does not appear to represent an expressed locus.
|
View
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| - |
- |
|
|
-
|
View
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| KCNK3 |
- |
|
|
This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The …
|
View
|
| PRPF39 |
- |
|
|
-
|
View
|
| S100A2 |
- |
|
|
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. …
|
View
|
| PRDM8 |
- |
|
|
May function as a transcription factor (By similarity).
|
View
|
| SERPINB4 |
- |
|
|
May act as a protease inhibitor to modulate the host immune response against tumor cells.
|
View
|
| PDCD5 |
- |
|
|
This gene encodes a protein expressed in tumor cells during apoptosis independent of the apoptosis-inducing stimuli. Prior to apoptosis induction, …
|
View
|
| TULP2 |
- |
|
|
TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this …
|
View
|
| RPL35A |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| ZNF232 |
- |
|
|
May function as a transcription factor.
|
View
|
| C6orf72 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SEC3L1 |
- |
|
|
The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting …
|
View
|
| DIRAS2 |
- |
|
|
DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by …
|
View
|
| CSMD2 |
- |
|
|
-
|
View
|
| CHD2 |
- |
|
|
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. …
|
View
|
| C14orf143 |
- |
|
|
-
|
View
|
| Olr1468 |
- |
|
|
member of the olfactory receptor family [RGD]
|
View
|
| TACSTD2 |
- |
|
|
This intronless gene encodes a carcinoma-associated antigen defined by the monoclonal antibody GA733. This antigen is a member of a …
|
View
|
| LAD1 |
- |
|
|
The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may …
|
View
|
| FUSIP1 |
- |
|
|
This gene product is a member of the serine-arginine (SR) family of proteins, which is involved in constitutive and regulated …
|
View
|
| GLDC |
- |
|
|
The enzyme system for cleavage of glycine (glycine cleavage system; GCS; EC 2.1.2.10), which is confined to the mitochondria, is …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| BNIPL |
- |
|
|
May be a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death.
|
View
|
| WNT8A |
- |
|
|
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in …
|
View
|
| GNAI1 |
- |
|
|
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are …
|
View
|
| LOH3CR2A |
- |
|
|
-
|
View
|
| OAT |
- |
|
|
OAT encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme is the pathway that converts arginine and ornithine …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ANKRD26 |
- |
|
|
-
|
View
|
| B3GALT5 |
- |
|
|
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse …
|
View
|
| DDAH1 |
- |
|
|
This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation …
|
View
|
| - |
- |
|
|
-
|
View
|
| PAK3 |
- |
|
|
PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of …
|
View
|
| C4orf9 |
- |
|
|
Involved in nucleolar processing of pre-18S ribosomal RNA. Has a role in the nuclear export of 40S pre-ribosomal subunit to …
|
View
|
| TFPT |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZA20D1 |
- |
|
|
Has deubiquitinating activity that is directed towards Lys-48 or Lys-63-linked polyubiquitin chains. Hydrolyzes both linear and branched forms of polyubiquitin. …
|
View
|
| SLC18A2 |
- |
|
|
Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into …
|
View
|
| KRTAP5-9 |
- |
|
|
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), …
|
View
|
| - |
- |
|
|
-
|
View
|
| GOLGB1 |
- |
|
|
May participate in forming intercisternal cross-bridges of the Golgi complex.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| DMRTA2 |
- |
|
|
-
|
View
|
| PDGFRL |
- |
|
|
This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. …
|
View
|
| PAX5 |
- |
|
|
The PAX5 gene is a member of the paired box (PAX) family of transcription factors. The central feature of this …
|
View
|
| SNAPC5 |
- |
|
|
Complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence …
|
View
|
| KCNJ16 |
- |
|
|
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein …
|
View
|
| - |
- |
|
|
-
|
View
|
| P2RX4 |
- |
|
|
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion …
|
View
|
| CRIP2 |
- |
|
|
-
|
View
|
| CRB2 |
- |
|
|
May play a role in polarized cells morphogenesis.
|
View
|
| RSHL2 |
- |
|
|
-
|
View
|
| DERA |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RNPEP |
- |
|
|
Exopeptidase which selectively removes arginine and/or lysine residues from the N-terminus of several peptide substrates including Arg(0)-Leu-enkephalin, Arg(0)-Met-enkephalin and Arg(- …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TRIM21 |
- |
|
|
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three …
|
View
|
| TFAP2A |
- |
|
|
AP2-alpha is a 52-kD retinoic acid-inducible and developmentally regulated activator of transcription that binds to a consensus DNA-binding sequence CCCCAGGC …
|
View
|
| - |
- |
|
|
-
|
View
|
| SCD4 |
- |
|
|
Stearoyl-CoA desaturases catalyze the committed step in the biosynthesis of monounsaturated fatty acids from saturated fatty acids. This reaction involves …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RASD1 |
- |
|
|
This gene encodes a Ras-related protein that is stimulated by dexamethasone. The exact function of this gene is unknown, but …
|
View
|
| CPZ |
- |
|
|
This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. …
|
View
|
| GPR147 |
- |
|
|
Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety …
|
View
|
| FOXP1 |
- |
|
|
This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important …
|
View
|
| - |
- |
|
|
Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin …
|
View
|
| AIP |
- |
|
|
AIP may play a positive role in AHR-mediated signalling possibly by influencing its receptivity for ligand and/or its nuclear targeting. …
|
View
|
| LBR |
- |
|
|
The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and …
|
View
|
| SLC25A5 |
- |
|
|
Catalyzes the exchange of ADP and ATP across the mitochondrial inner membrane.
|
View
|
| TF |
- |
|
|
The protein encoded by this gene is a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought …
|
View
|
| NRP2 |
- |
|
|
This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein …
|
View
|
| WDR67 |
- |
|
|
-
|
View
|
| EFHB |
- |
|
|
-
|
View
|
| FATE1 |
- |
|
|
-
|
View
|
| ZC3HDC5 |
- |
|
|
-
|
View
|
| NHLH2 |
- |
|
|
-
|
View
|
| CMAS |
- |
|
|
The enzyme encoded by this gene catalyzes the activation of Neu5Ac to Cytidine 5-prime-monophosphate N-acetylneuraminic acid (CMP-Neu5Ac), which provides the …
|
View
|
| SOST |
- |
|
|
Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
The dimeric enzyme acts as a UBL1 E1 ligase. It mediates ATP-dependent activation of UBL1 and formation of a thiolester …
|
View
|
| - |
- |
|
|
Demethylates proteins that have been reversibly carboxymethylated. Demethylates PPP2CB (in vitro).
|
View
|
| PRKRIR |
- |
|
|
Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR- inhibitory function of P58IPK, resulting in restoration …
|
View
|
| SLC3A1 |
- |
|
|
Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C2 |
- |
|
|
Component C2 is part of the classical pathway of complement system. Activated C1 cleaves C2 into C2a and C2b. C2a …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF583 |
- |
|
|
-
|
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| LRRC50 |
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| POLR2G |
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This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. …
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| FGF4 |
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The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess …
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| PSG9 |
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| THEG |
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This gene is specifically expressed in the nucleus of haploid male germ cells. It encodes a protein that may be …
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| SALL1 |
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Transcriptional repressor involved in organogenesis (By similarity).
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| KLHL17 |
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May play a role in the actin-based neuronal function (By similarity).
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| CLDN2 |
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Members of the claudin protein family, such as CLDN2, are expressed in an organ-specific manner and regulate the tissue-specific physiologic …
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