| SYNGR3 |
- |
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This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the …
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| CACNG2 |
- |
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L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, …
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| - |
- |
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Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The …
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| CACNA1F |
- |
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This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels …
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| BTBD2 |
- |
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The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a …
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| MCF2 |
- |
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MCF2 is a member of a large family of GDP-GTP exchange factors that modulate the activity of small GTPases of …
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| ARL6IP6 |
- |
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-
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| PCDHB15 |
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This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on …
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| TSPYL4 |
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-
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| SAS |
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The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
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| - |
- |
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-
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| MAN1B1 |
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Involved in the maturation of Asn-linked oligosaccharides. Trim a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2). The only …
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| PROZ |
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-
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| EFHD1 |
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-
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| CALCRL |
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Receptor for calcitonin-gene-related peptide (CGRP) together with RAMP1 and receptor for adrenomedullin together with RAMP2 or RAMP3 (By similarity). The …
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| PCDHB8 |
- |
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This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on …
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| GRK7 |
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This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase …
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| SMARCD3 |
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The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and …
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| MEST |
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This gene encodes a member of the [alpha]/[beta] hydrolase fold family and has isoform specific imprinting. The loss of imprinting …
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| ADAMTS3 |
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This gene encodes a disintegrin and metalloproteinase with thrombospondin (ADAMTS) motifs-3, which is a member of the ADAMTS protein family. …
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| EPHA8 |
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This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated …
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| PEA15 |
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PEA15 is a death effector domain (DED)-containing protein predominantly expressed in the central nervous system, particularly in astrocytes.[supplied by OMIM]
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| COL23A1 |
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-
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| - |
- |
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-
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| OMA1 |
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-
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| TITF1 |
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Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial …
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| KHDRBS1 |
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Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as …
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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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| C9orf19 |
- |
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-
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View
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| - |
- |
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-
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| ITGB1BP1 |
- |
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The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 …
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| GOLGA6 |
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The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a …
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| GALNT14 |
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GALNT14 (EC 2.4.1.41) belongs to a large subfamily of glycosyltransferases residing in the Golgi apparatus. GALNT enzymes catalyze the first …
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| ZNF331 |
- |
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Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain …
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| PRTN3 |
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Polymorphonuclear leukocyte serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro) and …
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| PLOD3 |
- |
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The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough …
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| SNRPD2 |
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The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA …
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| PCDH12 |
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This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an …
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| Snx2_predicted |
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may play a role in endosome to lysosome trafficking of the epidermal growth factor receptor (Egfr) [RGD]
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| SLMAP |
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-
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| WDR74 |
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-
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| PPP2CB |
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This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and …
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| Zmym3 |
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-
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| Tbc1d10b_predicted |
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an integral membrane protein whose reduction is necessary for embryo implantation [RGD]
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| - |
- |
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-
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| GUCA1C |
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Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low and inhibits guanylyl cyclases when free …
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| - |
- |
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-
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| INHBB |
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The inhibin beta B subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown …
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| Ndufa11 |
- |
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Transfer of electrons from NADH to the respiratory chain
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| SLITRK4 |
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Suppresses neurite outgrowth (By similarity).
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| - |
- |
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-
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| CHST4 |
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Catalyzes the transfer of sulfate to position 6 of non- reducing N-acetylglucosamine (GlcNAc) residues within mucin- associated glycans that ultimately …
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| CIZ1 |
- |
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May regulate the subcellular localization of CIP/WAF1.
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| HSPD1 |
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This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in …
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| FBL |
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This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first …
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| MC5R |
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Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which …
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| RNF7 |
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The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F …
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| - |
- |
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-
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| SCFD2 |
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May be involved in protein transport.
|
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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| - |
- |
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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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| Ptdss1 |
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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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| GPR23 |
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-
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| EMR2 |
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This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the …
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| C1orf40 |
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-
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| TFAM |
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This gene encodes a mitochondrial transcription factor that is a key activator of mitochondrial transcription as well as a participant …
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| CLDN15 |
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Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity (By similarity).
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| - |
- |
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-
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| SLK |
- |
|
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-
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View
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| - |
- |
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-
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| RBBP9 |
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The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of …
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| HIST1H1E |
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Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules …
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| MYH11 |
- |
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The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene …
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| DLEU1 |
- |
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May act as a tumor suppressor.
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| SERPINA5 |
- |
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-
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| CD68 |
- |
|
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CD68 is a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a type …
|
View
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| BRCA2 |
- |
|
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Mutations in BRCA1 and BRCA2 have been linked to an elevated risk of young onset breast cancer which has been …
|
View
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| FAM61B |
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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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| - |
- |
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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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| - |
- |
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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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| DIAPH2 |
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This gene may play a role in the development and normal function of the ovaries. Mutations of this gene have …
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| COL6A3 |
- |
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This gene encodes the alpha 3 chain, one of the three alpha chains of type VI collagen, a beaded filament …
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| LMNA |
- |
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The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family …
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| GJB6 |
- |
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The connexin gene family codes for the protein subunits of gap junction channels that mediate direct diffusion of ions and …
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View
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| LENG3 |
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-
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| DPM2 |
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Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack …
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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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| C15orf17 |
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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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| DDX56 |
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This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp …
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| - |
- |
|
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DISCONTINUED: LocusID 114219 was defined by AF130114, which contains an Alu family repeat and lacks EST and protein support.
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| AZIN1 |
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Ornithine decarboxylase (ODC) catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. …
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| ALS2CR19 |
- |
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Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of …
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View
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| CES1 |
- |
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Carboxylesterase 1 is a member of a large multigene family. The enzymes encoded by these genes are responsible for the …
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View
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| KCNN4 |
- |
|
|
The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular …
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View
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| - |
- |
|
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Transcriptional factor which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity).
|
View
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| WDR52 |
- |
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-
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View
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| CTSW |
- |
|
|
The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have …
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| HP1BP3 |
- |
|
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Histones H1 are necessary for the condensation of nucleosome chains into higher order structures (By similarity).
|
View
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| P2RY2 |
- |
|
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The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with …
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| FOLR3 |
- |
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The protein encoded by this gene is a member of the folate receptor (FOLR) family. Members of this gene family …
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| PODXL |
- |
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This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component …
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| FLRT1 |
- |
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This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in …
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| ALDOAP2 |
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-
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| HEBP1 |
- |
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The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of …
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| MKRN3 |
- |
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-
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| PANK2 |
- |
|
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This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the …
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| DECR2 |
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-
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View
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| CYP4V2 |
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-
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View
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| CIB1 |
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The protein encoded by this gene is a member of the calcium-binding protein family. The specific function of this protein …
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| - |
- |
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Delays the onset of cell spreading in the early stages of cell adhesion to fibronectin. Also involved in calcium- dependent …
|
View
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| DULLARD |
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-
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View
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| TLX1 |
- |
|
|
Controls the genesis of the spleen. Binds to the DNA sequence 5'-GGCGGTAAGTGG-3'.
|
View
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| TRIP11 |
- |
|
|
TRIP11 was first identified through its ability to interact functionally with thyroid hormone receptor-beta (THRB; MIM 190160). It has also …
|
View
|
| NKX2-5 |
- |
|
|
Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal …
|
View
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| - |
- |
|
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-
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View
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| CCK |
- |
|
|
Cholecystokinin is a brain/gut peptide. In the gut, it induces the release of pancreatic enzymes and the contraction of the …
|
View
|
| PPP2R5D |
- |
|
|
The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of …
|
View
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| STARD3NL |
- |
|
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-
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View
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| BMP8B |
- |
|
|
The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs …
|
View
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| LSM7 |
- |
|
|
Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; …
|
View
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| RABL3 |
- |
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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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| ZMYND17 |
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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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| TAF9L |
- |
|
|
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these …
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View
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| SSSCA1 |
- |
|
|
This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has …
|
View
|
| UBTF |
- |
|
|
Upstream binding factor (UBF) is a transcription factor required for expression of the 18S, 5.8S, and 28S ribosomal RNAs, along …
|
View
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| CXXC4 |
- |
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-
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View
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| CES4 |
- |
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-
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View
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| ITGBL1 |
- |
|
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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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| GIMAP8 |
- |
|
|
This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. …
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View
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| ROCK1 |
- |
|
|
ROCK1 is a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase …
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View
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| GALNT10 |
- |
|
|
This gene belongs to the polypeptide N-acetylgalactosaminyltransferase (pp-GalNAc-T) gene family. Polypeptide GalNAc transferases initiate the synthesis of mucin-type oligosaccharides by …
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View
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| SAA4 |
- |
|
|
Major acute phase reactant. Apolipoprotein of the HDL complex.
|
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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| - |
- |
|
|
-
|
View
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| RBM30 |
- |
|
|
May play a role in alternative splice site selection during pre-mRNA processing (By similarity).
|
View
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| C16orf35 |
- |
|
|
-
|
View
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| BCL2L10 |
- |
|
|
The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and …
|
View
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| AKAP7 |
- |
|
|
This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind …
|
View
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| - |
- |
|
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-
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View
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| CD6 |
- |
|
|
Involved in cell adhesion. Binds to CD166.
|
View
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| - |
- |
|
|
-
|
View
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| - |
- |
|
|
May be required for the insertion of integral membrane proteins into the mitochondrial inner membrane (By similarity).
|
View
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| FYTTD1 |
- |
|
|
-
|
View
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| C14orf49 |
- |
|
|
-
|
View
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| CLDN9 |
- |
|
|
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
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| STX12 |
- |
|
|
SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network (By similarity).
|
View
|
| CYP27A1 |
- |
|
|
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
|
View
|
| TUBGCP5 |
- |
|
|
Gamma-tubulin complex is necessary for microtublule nucleation at the centrosome.
|
View
|
| PTPRA |
- |
|
|
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to …
|
View
|
| SRPRB |
- |
|
|
The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle …
|
View
|
| AASDHPPT |
- |
|
|
The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the …
|
View
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| RPL8 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
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| APTX |
- |
|
|
This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase …
|
View
|
| GTF3C5 |
- |
|
|
Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and …
|
View
|
| - |
- |
|
|
-
|
View
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| C14orf106 |
- |
|
|
-
|
View
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| POLR2A |
- |
|
|
This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The …
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View
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| PRDX1 |
- |
|
|
This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The …
|
View
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| PLD3 |
- |
|
|
-
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View
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| AKAP2 |
- |
|
|
The PALM2-AKAP2 mRNA is a naturally occurring co-transcribed product of the neighboring PALM2 and AKAP2 genes. The significance of this …
|
View
|
| IL6 |
- |
|
|
-
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View
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| HNRPH3 |
- |
|
|
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and …
|
View
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| C7orf28B |
- |
|
|
-
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View
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| TCEB3BP1 |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
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| TEF |
- |
|
|
Thyrotroph embryonic factor (TEF), a transcription factor, is a member of the PAR (proline and acidic amino acid-rich) subfamily of …
|
View
|
| - |
- |
|
|
-
|
View
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| C19orf7 |
- |
|
|
-
|
View
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| CTAG2 |
- |
|
|
-
|
View
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| CCNT2 |
- |
|
|
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic …
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| HSPA4 |
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| DNAJA3 |
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DNAJA3 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins. For background information on the DNAJ family, see MIM 608375.[supplied …
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| MKRN1 |
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The Makorin ring finger protein-1 gene (MKRN1) is a highly transcribed, intron-containing source for a family of intronless mammalian genes …
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May be involved in nucleic acid metabolism and/or modifications.
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| KLF15 |
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Transcriptional activator. Binds to the GA element of the CLCNKA promoter.
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| ZFHX1B |
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The SMADIP1 gene (also known as SIP1) is a member of the delta-EF1 (TCF8; MIM 189909)/Zfh1 family of 2-handed zinc …
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| UBE2D4 |
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| SCAMP3 |
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This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers …
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| RGS7 |
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Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound …
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| CLEC4A |
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This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common …
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| HNRPD |
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This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins …
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| TNRC5 |
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