| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SFTPG |
- |
|
|
-
|
View
|
| ASXL2 |
- |
|
|
-
|
View
|
| GMNN |
- |
|
|
Inhibits DNA replication by preventing the incorporation of MCM complex into prereplication complex (pre-RC). It is degraded during the mitotic …
|
View
|
| DDX59 |
- |
|
|
-
|
View
|
| - |
- |
|
|
MIZF interacts with methyl-CpG-binding protein-2 (MBD2; MIM 603547), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a …
|
View
|
| LACE1 |
- |
|
|
This gene encodes a protein with possible ATPase function. The protein contains a P-loop motif and a five-domain structure that …
|
View
|
| FLNC |
- |
|
|
Human actin-binding protein (ABP), also called filamin, crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the …
|
View
|
| SKIV2L2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| APG12L |
- |
|
|
Required for autophagy.
|
View
|
| - |
- |
|
|
-
|
View
|
| LRRC18 |
- |
|
|
-
|
View
|
| CNGA3 |
- |
|
|
Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated …
|
View
|
| CACNA2D3 |
- |
|
|
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels …
|
View
|
| MYO1G |
- |
|
|
-
|
View
|
| NXPH3 |
- |
|
|
May be signaling molecules that resemble neuropeptides. Ligand for alpha-neurexins (By similarity).
|
View
|
| FKBP9 |
- |
|
|
PPIases accelerate the folding of proteins during protein synthesis.
|
View
|
| KCNAB1 |
- |
|
|
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions …
|
View
|
| SHC3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HCG18 |
- |
|
|
-
|
View
|
| EXOSC8 |
- |
|
|
Component of the nuclear exosome 3'->5' exoribonuclease complex. Required for the 3'processing of the 7S pre-RNA to the mature 5.8S …
|
View
|
| C10orf119 |
- |
|
|
-
|
View
|
| - |
- |
|
|
This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in …
|
View
|
| TRAM1 |
- |
|
|
Stimulatory or required for the translocation of secretory proteins across the ER membrane.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CCDC6 |
- |
|
|
-
|
View
|
| WNT5B |
- |
|
|
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in …
|
View
|
| - |
- |
|
|
-
|
View
|
| NKG7 |
- |
|
|
-
|
View
|
| ARFGAP3 |
- |
|
|
The protein encoded by this gene is a GTPase-activating protein (GAP) which associates with the Golgi apparatus and which is …
|
View
|
| - |
- |
|
|
-
|
View
|
| APOL6 |
- |
|
|
This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where …
|
View
|
| ACTL7A |
- |
|
|
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino …
|
View
|
| HK1 |
- |
|
|
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. This gene encodes a ubiquitous form of …
|
View
|
| FTHL17 |
- |
|
|
This gene is similar to a mouse gene that encodes a ferritin heavy polypeptide-like protein.
|
View
|
| TPT1 |
- |
|
|
-
|
View
|
| PPARGC1B |
- |
|
|
-
|
View
|
| DFNB31 |
- |
|
|
In rat brain, Cip98 interacts with a calmodulin-dependent serine kinase, CASK (MIM 300172), and may be involved in the formation …
|
View
|
| C18orf24 |
- |
|
|
-
|
View
|
| OTP |
- |
|
|
This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key …
|
View
|
| CASC1 |
- |
|
|
-
|
View
|
| GPR54 |
- |
|
|
The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the …
|
View
|
| HEG1 |
- |
|
|
-
|
View
|
| ETS1 |
- |
|
|
Transcription factor.
|
View
|
| F5 |
- |
|
|
This gene encodes coagulation factor V which is an essential factor of the blood coagulation cascade. This factor circulates in …
|
View
|
| DTX3L |
- |
|
|
Functions as an ubiquitin ligase protein in vitro.
|
View
|
| PCDHGC5 |
- |
|
|
This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
K6IRS4 belongs to a family of type II keratins that are specifically expressed in the inner root sheath of hair …
|
View
|
| GABRP |
- |
|
|
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the …
|
View
|
| ZNF566 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| GPR18 |
- |
|
|
Orphan receptor. Could be a chemokine receptor.
|
View
|
| ZNF230 |
- |
|
|
May function as a transcription factor.
|
View
|
| EHBP1L1 |
- |
|
|
-
|
View
|
| AK3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HNRPM |
- |
|
|
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and …
|
View
|
| RBBP7 |
- |
|
|
This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is …
|
View
|
| APLN |
- |
|
|
Apelin is a neuropeptide expressed in the supraoptic and paraventricular nuclei that acts on specific receptors located on vasopressinergic neurons …
|
View
|
| - |
- |
|
|
-
|
View
|
| C10orf4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| P2RY1 |
- |
|
|
The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with …
|
View
|
| - |
- |
|
|
-
|
View
|
| OR52D1 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| YEATS2 |
- |
|
|
-
|
View
|
| MCM3 |
- |
|
|
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in …
|
View
|
| KCNIP4 |
- |
|
|
This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin …
|
View
|
| THAP3 |
- |
|
|
-
|
View
|
| PCDH11X |
- |
|
|
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an …
|
View
|
| MAN1A2 |
- |
|
|
Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2).
|
View
|
| - |
- |
|
|
-
|
View
|
| TCBA1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes …
|
View
|
| DIO1 |
- |
|
|
Type I iodothyronine deiodinase is a thiol-requiring propylthiouracil-sensitive oxidoreductase. It activates thyroid hormone by converting the prohormone thyroxine (T4) by …
|
View
|
| TCF21 |
- |
|
|
TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic …
|
View
|
| CDH13 |
- |
|
|
This gene is a member of the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised …
|
View
|
| CBWD3 |
- |
|
|
-
|
View
|
| KIF27 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TM4SF1 |
- |
|
|
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
|
View
|
| - |
- |
|
|
-
|
View
|
| GJA12 |
- |
|
|
-
|
View
|
| KLHL9 |
- |
|
|
-
|
View
|
| KRT7 |
- |
|
|
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of …
|
View
|
| NRBF2 |
- |
|
|
-
|
View
|
| TREX1 |
- |
|
|
This gene uses two different open reading frames. The upstream ORF encodes proteins which interact with the ataxia telangiectasia and …
|
View
|
| LANCL2 |
- |
|
|
-
|
View
|
| STX10 |
- |
|
|
SNARE that may function to receive vesicles either from the Golgi stack or from the endosome.
|
View
|
| TM7SF3 |
- |
|
|
-
|
View
|
| DRP2 |
- |
|
|
Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of …
|
View
|
| PTH |
- |
|
|
The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by …
|
View
|
| ACN9 |
- |
|
|
-
|
View
|
| RNASE3 |
- |
|
|
Cytotoxin and helminthotoxin with low-efficiency ribonuclease activity. Possesses a wide variety of biological activities. Exhibits antibacterial activity.
|
View
|
| UBP1 |
- |
|
|
-
|
View
|
| TMSL8 |
- |
|
|
Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore …
|
View
|
| ETNK1 |
- |
|
|
This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic …
|
View
|
| PRSS22 |
- |
|
|
This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in …
|
View
|
| C9orf21 |
- |
|
|
-
|
View
|
| CLUAP1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| OR13C4 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| C6orf107 |
- |
|
|
-
|
View
|
| AZI1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C4orf15 |
- |
|
|
-
|
View
|
| EVI5 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CXorf25 |
- |
|
|
-
|
View
|
| GGCX |
- |
|
|
Vitamin K-dependent carboxylation of multiple amino- terminal glutamate residues in various proteins, it converts glutamate residues to gamma-carboxyglutamate.
|
View
|
| POLR2J |
- |
|
|
This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| AR |
- |
|
|
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional …
|
View
|
| STK6 |
- |
|
|
The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or …
|
View
|
| - |
- |
|
|
-
|
View
|
| NDE1 |
- |
|
|
-
|
View
|
| ACTL6B |
- |
|
|
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino …
|
View
|
| - |
- |
|
|
-
|
View
|
| MYO10 |
- |
|
|
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed …
|
View
|
| STAT4 |
- |
|
|
The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines …
|
View
|
| - |
- |
|
|
-
|
View
|
| DNAJC7 |
- |
|
|
-
|
View
|
| PHEMX |
- |
|
|
This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor …
|
View
|
| HRBL |
- |
|
|
-
|
View
|
| SRMS |
- |
|
|
-
|
View
|
| FIP1L1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF667 |
- |
|
|
-
|
View
|
| HBXAP |
- |
|
|
HBXAP is involved in transcription repression, transcription coactivation when associated with hepatitis B virus X protein (HBX), and chromatin remodeling …
|
View
|
| EZH1 |
- |
|
|
May be involved in the regulation of gene transcription and chromatin structure.
|
View
|
| HIST1H3G |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules …
|
View
|
| C6orf93 |
- |
|
|
-
|
View
|
| - |
- |
|
|
Binds to membranes enriched in phosphatidylinositol-4,5- biphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi …
|
View
|
| TRADD |
- |
|
|
The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed …
|
View
|
| - |
- |
|
|
-
|
View
|
| C6orf48 |
- |
|
|
-
|
View
|
| C15orf15 |
- |
|
|
This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene …
|
View
|
| SQSTM1 |
- |
|
|
-
|
View
|
| UGT2B17 |
- |
|
|
UGT2B17 belongs to the family of UDP-glucuronosyltransferases (UGTs; EC 2.4.1.17), enzymes that catalyze the transfer of glucuronic acid from uridine …
|
View
|
| TBL1Y |
- |
|
|
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group …
|
View
|
| BIN2 |
- |
|
|
-
|
View
|
| CALN1 |
- |
|
|
This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains …
|
View
|
| PSMD13 |
- |
|
|
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core …
|
View
|
| - |
- |
|
|
-
|
View
|
| BOP1 |
- |
|
|
Required for maturation of the 25S and 5.8S ribosomal RNAs. Required for proper processing at four distinct sites located within …
|
View
|
| HRG |
- |
|
|
This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been …
|
View
|
| - |
- |
|
|
-
|
View
|
| TOR1A |
- |
|
|
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to …
|
View
|
| SERTAD4 |
- |
|
|
-
|
View
|
| GPR1 |
- |
|
|
-
|
View
|
| CYP4F3 |
- |
|
|
This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which …
|
View
|
| POLR2C |
- |
|
|
This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. …
|
View
|
| DDX3X |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| NEDD8 |
- |
|
|
May play an important role during the embryonic development and differentiation of the central nervous system. May play an essential …
|
View
|
| KCTD14 |
- |
|
|
-
|
View
|
| ZNF266 |
- |
|
|
May function as a transcription factor.
|
View
|
| NFKBIB |
- |
|
|
NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) …
|
View
|
| HRAS |
- |
|
|
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
|
View
|
| HCG11 |
- |
|
|
-
|
View
|
| TMED7 |
- |
|
|
-
|
View
|
| AGPAT1 |
- |
|
|
This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| DOCK3 |
- |
|
|
Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its …
|
View
|
| - |
- |
|
|
-
|
View
|
| DDX27 |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA0953 |
- |
|
|
-
|
View
|
| TACR1 |
- |
|
|
This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations …
|
View
|
| GABARAP |
- |
|
|
Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, …
|
View
|
| - |
- |
|
|
-
|
View
|
| GOLGA5 |
- |
|
|
The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a …
|
View
|
| NDP |
- |
|
|
NDP is the genetic locus identified as harboring mutations that result in Norrie disease. Norrie disease is a rare genetic …
|
View
|
| SPINT2 |
- |
|
|
Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa.
|
View
|
| CASP7 |
- |
|
|
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases …
|
View
|
| - |
- |
|
|
-
|
View
|
| ARVCF |
- |
|
|
Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play an important role …
|
View
|
| - |
- |
|
|
-
|
View
|
| C6orf139 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PNMA2 |
- |
|
|
-
|
View
|
| AMPD2 |
- |
|
|
AMP deaminase plays a critical role in energy metabolism.
|
View
|
| DNMBP |
- |
|
|
Scaffold protein that links dynamin with actin- regulating proteins. May play a role in membrane trafficking between the cell surface …
|
View
|
| CRIM1 |
- |
|
|
Motor neurons are among the earliest neurons to appear after the commencement of cell patterning and the beginning of cell …
|
View
|
| ATP2C1 |
- |
|
|
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the …
|
View
|
| ATP2B2 |
- |
|
|
The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation …
|
View
|
| COG1 |
- |
|
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The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for …
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May act as a DNase and a RNase (Potential).
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| TRIM33 |
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The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein …
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| L3MBTL2 |
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Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, …
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| UGCGL1 |
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Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control …
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