| CASK |
- |
|
|
Binds to cell-surface proteins, including amyloid precursor protein, neurexins, and syndecans. May mediate a link between the extracellular matrix and …
|
View
|
| FAM40A |
- |
|
|
-
|
View
|
| VILL |
- |
|
|
The function of this gene has not yet been determined; however, since it is related to the villin gene, it …
|
View
|
| KIAA0802 |
- |
|
|
-
|
View
|
| TAOK1 |
- |
|
|
-
|
View
|
| TMEM24 |
- |
|
|
-
|
View
|
| ZNF469 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| MLF1IP |
- |
|
|
-
|
View
|
| ZNF396 |
- |
|
|
Isoforms 1 and 2 act as DNA-dependent transcriptional repressors.
|
View
|
| GBGT1 |
- |
|
|
This gene encodes a member of the histo-blood group ABO gene family that encodes glycosyltransferases with related but distinct substrate …
|
View
|
| BTNL8 |
- |
|
|
-
|
View
|
| ARL6 |
- |
|
|
The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. ARF proteins are important regulators of …
|
View
|
| GIT1 |
- |
|
|
GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring together molecules to form signaling …
|
View
|
| NUDT12 |
- |
|
|
Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NELL2 |
- |
|
|
This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF) -like repeats. The encoded heterotrimeric protein may be …
|
View
|
| C9orf3 |
- |
|
|
Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin …
|
View
|
| CHGA |
- |
|
|
The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found …
|
View
|
| OR51E1 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| IL24 |
- |
|
|
This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal …
|
View
|
| ACTR5 |
- |
|
|
-
|
View
|
| TBX20 |
- |
|
|
Probable transcriptional regulator involved in developmental processes.
|
View
|
| EGFL3 |
- |
|
|
-
|
View
|
| FBXW9 |
- |
|
|
Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, …
|
View
|
| ZCCHC14 |
- |
|
|
-
|
View
|
| SUMO4 |
- |
|
|
This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are …
|
View
|
| MCOLN2 |
- |
|
|
Mucolipins constitute a family of cation channel proteins with homologs in mouse, Drosophila, and C. elegans. Mutations in the human …
|
View
|
| QARS |
- |
|
|
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino …
|
View
|
| PPP3R1 |
- |
|
|
Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity.
|
View
|
| UMPS |
- |
|
|
-
|
View
|
| PKP1 |
- |
|
|
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize …
|
View
|
| CNKSR2 |
- |
|
|
May function as an adapter protein or regulator of Ras signaling pathways.
|
View
|
| NR6A1 |
- |
|
|
This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern …
|
View
|
| - |
- |
|
|
-
|
View
|
| EGR3 |
- |
|
|
The gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early …
|
View
|
| C6orf71 |
- |
|
|
-
|
View
|
| ENTPD5 |
- |
|
|
ENTPD5 is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved …
|
View
|
| AOC2 |
- |
|
|
Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone …
|
View
|
| ICAM3 |
- |
|
|
The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are …
|
View
|
| RSC1A1 |
- |
|
|
-
|
View
|
| GYS2 |
- |
|
|
Transfers the glycosyl residue from UDP-Glc to the nonreducing end of alpha-1,4-glucan.
|
View
|
| EPRS |
- |
|
|
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this …
|
View
|
| S100G |
- |
|
|
Calbindin D9K, the vitamin D-dependent calcium-binding protein (CALB3) is a cytosolic protein of molecular weight 9,000 and belongs to a …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TNFSF8 |
- |
|
|
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This …
|
View
|
| ZNF671 |
- |
|
|
-
|
View
|
| LLGL1 |
- |
|
|
This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| PRG4 |
- |
|
|
The protein encoded by this gene is an approximately 345-kD proteoglycan specifically synthesized by chondrocytes located at the surface of …
|
View
|
| OSIL |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MRPL44 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| LIME1 |
- |
|
|
-
|
View
|
| PRKAG3 |
- |
|
|
The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer …
|
View
|
| - |
- |
|
|
-
|
View
|
| HLF |
- |
|
|
-
|
View
|
| - |
- |
|
|
Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point …
|
View
|
| C19orf36 |
- |
|
|
-
|
View
|
| C16orf24 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TBX1 |
- |
|
|
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. …
|
View
|
| RYR3 |
- |
|
|
Ryanodine receptors, such as RYR3, are intracellular calcium ion release channels responsible for the release of Ca(2+) from intracellular stores …
|
View
|
| - |
- |
|
|
-
|
View
|
| POLR2H |
- |
|
|
This gene encodes one of the essential subunits of RNA polymerase II that is shared by the other two eukaryotic …
|
View
|
| RANBP17 |
- |
|
|
The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The …
|
View
|
| - |
- |
|
|
-
|
View
|
| TRAF5 |
- |
|
|
The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins …
|
View
|
| - |
- |
|
|
-
|
View
|
| AOX1 |
- |
|
|
Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate …
|
View
|
| TGFBRAP1 |
- |
|
|
-
|
View
|
| PDE1C |
- |
|
|
Has a high affinity for both cAMP and cGMP.
|
View
|
| SEH1L |
- |
|
|
The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF614 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NR6A1 |
- |
|
|
This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern …
|
View
|
| DNAJC6 |
- |
|
|
DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ …
|
View
|
| DRD1IP |
- |
|
|
the protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| IFNA6 |
- |
|
|
Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate …
|
View
|
| HYAL4 |
- |
|
|
This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major …
|
View
|
| C14orf50 |
- |
|
|
-
|
View
|
| EIF1AX |
- |
|
|
This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex …
|
View
|
| RSL1D1 |
- |
|
|
-
|
View
|
| ZNF29 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| ICT1 |
- |
|
|
The adult colon epithelium contains 3 differentiated cell types that arise from a multipotent stem cell. Deviation from the normal …
|
View
|
| - |
- |
|
|
-
|
View
|
| MTMR2 |
- |
|
|
This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. Mutations in this gene are …
|
View
|
| ABHD14A |
- |
|
|
-
|
View
|
| KIAA1432 |
- |
|
|
-
|
View
|
| CDH15 |
- |
|
|
This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an …
|
View
|
| - |
- |
|
|
-
|
View
|
| AKAP3 |
- |
|
|
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to …
|
View
|
| - |
- |
|
|
-
|
View
|
| POLR3G |
- |
|
|
May direct with other members of the subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between …
|
View
|
| SGTB |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TPD52L2 |
- |
|
|
-
|
View
|
| GOLGA7 |
- |
|
|
-
|
View
|
| MEP1B |
- |
|
|
Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes and in leukocytes …
|
View
|
| PGRMC1 |
- |
|
|
Progesterone binding protein is a putative steroid membrane receptor. The protein is expressed predominantly in the liver and kidney.
|
View
|
| GLG1 |
- |
|
|
Binds fibroblast growth factor and E-selectin (cell- adhesion lectin on endothelial cells mediating the binding of neutrophils).
|
View
|
| TAAR8 |
- |
|
|
G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM]
|
View
|
| HP |
- |
|
|
Haptoglobin combines with free plasma hemoglobin, preventing loss of iron through the kidneys and protecting the kidneys from damage by …
|
View
|
| RPS6KC1 |
- |
|
|
-
|
View
|
| PRDX6 |
- |
|
|
The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional …
|
View
|
| DUSP8 |
- |
|
|
The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their …
|
View
|
| ATP8A1 |
- |
|
|
The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive …
|
View
|
| - |
- |
|
|
Scaffold protein which probably links Toll-like receptors (TLRs) to basic cellular processes via its interaction with the complex containing IRAK …
|
View
|
| BAI1 |
- |
|
|
Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal …
|
View
|
| BZW2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| STARD10 |
- |
|
|
The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. In vitro, this protein …
|
View
|
| - |
- |
|
|
-
|
View
|
| PPP2R3A |
- |
|
|
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of …
|
View
|
| SLC9A2 |
- |
|
|
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding …
|
View
|
| GATAD2A |
- |
|
|
Transcriptional repressor.
|
View
|
| - |
- |
|
|
-
|
View
|
| C21orf89 |
- |
|
|
-
|
View
|
| FAIM |
- |
|
|
Plays a role as an inducible effector molecule that mediates Fas resistance produced by surface Ig engagement in B cells …
|
View
|
| ZNF268 |
- |
|
|
May function as a transcription factor.
|
View
|
| ABCC11 |
- |
|
|
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport …
|
View
|
| - |
- |
|
|
-
|
View
|
| DNASE2 |
- |
|
|
This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions …
|
View
|
| GPR32 |
- |
|
|
Orphan receptor.
|
View
|
| SLC4A11 |
- |
|
|
Putative sodium bicarbonate transporter.
|
View
|
| TNNT3 |
- |
|
|
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin …
|
View
|
| C20orf29 |
- |
|
|
-
|
View
|
| OR4D1 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| CDC40 |
- |
|
|
Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for …
|
View
|
| PRPF38A |
- |
|
|
-
|
View
|
| SPCS1 |
- |
|
|
Microsomal signal peptidase is a membrane-bound endoproteinase that removes signal peptides from nascent proteins as they are translocated into the …
|
View
|
| C14orf81 |
- |
|
|
-
|
View
|
| HBE1 |
- |
|
|
The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta …
|
View
|
| ATP1A1 |
- |
|
|
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of …
|
View
|
| CLK3 |
- |
|
|
CLK3 encodes a serine/threonine type protein kinase with a non-conserved N-terminal domain. A long and short isoform (phclk3 and pclk3/152) …
|
View
|
| ABI3 |
- |
|
|
This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology …
|
View
|
| GMPPB |
- |
|
|
This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to …
|
View
|
| ZNF18 |
- |
|
|
May function as a transcription factor.
|
View
|
| NCOA1 |
- |
|
|
The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a …
|
View
|
| - |
- |
|
|
Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM; MIM 308840) involved in axon subcellular targeting and synapse …
|
View
|
| NFATC2 |
- |
|
|
The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This …
|
View
|
| GSTO1 |
- |
|
|
This gene encodes a member of the theta class glutathione S-transferase-like (GSTTL) protein family. In mouse, the encoded protein acts …
|
View
|
| C9orf66 |
- |
|
|
-
|
View
|
| MYO15A |
- |
|
|
This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension …
|
View
|
| IGL@ |
- |
|
|
Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of …
|
View
|
| CKLFSF5 |
- |
|
|
This gene belongs to the chemokine-like factor gene superfamily, a novel superfamily that links the chemokine gene family and the …
|
View
|
| FOLR1 |
- |
|
|
The protein encoded by this gene is a member of the folate receptor (FOLR) family. Members of this gene family …
|
View
|
| RHBG |
- |
|
|
RHBG and RHCG are non-erythroid members of the Rhesus (Rh) protein family that are mainly expressed in the kidney and …
|
View
|
| MRPL34 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| PDCD2 |
- |
|
|
This gene encodes a nuclear protein expressed in a variety of tissues. The rat homolog, Rp8, is transiently expressed in …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| EGLN3 |
- |
|
|
Catalyzes the posttranslational formation of 4- hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF-1 alpha at Pro-564, and HIF-2 …
|
View
|
| ZFPL1 |
- |
|
|
-
|
View
|
| YTHDF1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc …
|
View
|
| - |
- |
|
|
-
|
View
|
| RPL29 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| UROS |
- |
|
|
The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in …
|
View
|
| - |
- |
|
|
-
|
View
|
| CDC20 |
- |
|
|
CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. …
|
View
|
| UCP2 |
- |
|
|
Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation …
|
View
|
| UCN2 |
- |
|
|
This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) …
|
View
|
| FAM8A1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
RNA-binding factor which binds specifically to the very 3'UTR ends of both histone H1 and H3.3 mRNAs, encompassing the polyadenylation …
|
View
|
| CKMT2 |
- |
|
|
Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. …
|
View
|
| GGPS1 |
- |
|
|
Geranylgeranyl diphosphate (GGPP) synthase (GGPS) catalyzes the synthesis of GGPP, an important molecule responsible for the C20-prenylation of protein and …
|
View
|
| CBLN1 |
- |
|
|
Precerebellin is similar to the noncollagen domain of complement component C1qB. It gives rise to several truncated derivatives, including the …
|
View
|
| RAD23A |
- |
|
|
The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in …
|
View
|
| TBC1D19 |
- |
|
|
May act as a GTPase activating protein for Rab family protein(s).
|
View
|
| THUMPD2 |
- |
|
|
-
|
View
|
| MAGEB3 |
- |
|
|
This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of …
|
View
|
| - |
- |
|
|
-
|
View
|
| TEX101 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
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| CHMP5 |
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| ANTXR2 |
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Necessary for cellular interactions with laminin and the extracellular matrix.
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| COPE |
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The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that …
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| CD207 |
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The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis …
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| CORO2A |
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This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 …
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| SUHW1 |
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This gene was predicted both by automated computational analysis and by similarity to a Drosophila gene and to predicted genes …
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| MRPL52 |
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Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
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| TRIM49 |
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The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. …
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| CDH8 |
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This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. …
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| NR2F1 |
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Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates …
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| DHDH |
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Trans-dihydrodiol dehydrogenase (DD; EC 1.3.1.20) catalyzes the NADP(+)-linked oxidation of trans-dihydrodiols of aromatic hydrocarbons to the corresponding catechols. DD exists …
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| CDC27 |
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The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces …
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| EREG |
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Epiregulin is a member of the epidermal growth factor family. Epiregulin can function as a ligand of EGFR (epidermal growth …
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| WSB1 |
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This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick …
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