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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
q33.2
Chromosome location (bp)
121567057 - 121785530
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Also plays a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase (PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status in response to pro-inflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade through ERN1. Mediates TNF-alpha-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3 from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on 'Ser-966', leading to the dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Mediates also TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs) proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating protein (GAP) for the ADP ribosylation factor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTP and thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B signaling pathways in endothelial cells in response to lipopolysaccharides (LPS). Binds specifically to phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylinositol 3-phosphate (PtdIns3P). In response to vascular endothelial growth factor (VEGFA), acts as a negative regulator of the VEGFR2-PI3K-mediated angiogenic signaling pathway by inhibiting endothelial cell migration and tube formation. In the developing brain, promotes both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex in a glial-dependent locomotion process. Probable downstream effector of the Reelin signaling pathway; promotes Purkinje cell (PC) dendrites development and formation of cerebellar synapses. Functions also as a tumor suppressor protein in prostate cancer progression; prevents cell proliferation and epithelial-to-mesenchymal transition (EMT) through activation of the glycogen synthase kinase-3 beta (GSK3B)-induced beta-catenin and inhibition of PI3K-AKT and Ras-MAPK survival downstream signaling cascades, respectively....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, GTPase activation
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q5VWQ8 [Direct mapping] Disabled homolog 2-interacting protein
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SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001525[angiogenesis] GO:0001933[negative regulation of protein phosphorylation] GO:0002376[immune system process] GO:0005096[GTPase activator activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0006986[response to unfolded protein] GO:0007049[cell cycle] GO:0007165[signal transduction] GO:0007252[I-kappaB phosphorylation] GO:0008285[negative regulation of cell population proliferation] GO:0008625[extrinsic apoptotic signaling pathway via death domain receptors] GO:0010596[negative regulation of endothelial cell migration] GO:0010633[negative regulation of epithelial cell migration] GO:0010719[negative regulation of epithelial to mesenchymal transition] GO:0010976[positive regulation of neuron projection development] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016525[negative regulation of angiogenesis] GO:0017124[SH3 domain binding] GO:0019900[kinase binding] GO:0019901[protein kinase binding] GO:0021814[cell motility involved in cerebral cortex radial glia guided migration] GO:0021819[layer formation in cerebral cortex] GO:0030139[endocytic vesicle] GO:0030163[protein catabolic process] GO:0030424[axon] GO:0030425[dendrite] GO:0030948[negative regulation of vascular endothelial growth factor receptor signaling pathway] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031434[mitogen-activated protein kinase kinase binding] GO:0031435[mitogen-activated protein kinase kinase kinase binding] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032266[phosphatidylinositol-3-phosphate binding] GO:0032809[neuronal cell body membrane] GO:0034144[negative regulation of toll-like receptor 4 signaling pathway] GO:0034260[negative regulation of GTPase activity] GO:0034620[cellular response to unfolded protein] GO:0035148[tube formation] GO:0035591[signaling adaptor activity] GO:0035924[cellular response to vascular endothelial growth factor stimulus] GO:0036312[phosphatidylinositol 3-kinase regulatory subunit binding] GO:0036324[vascular endothelial growth factor receptor-2 signaling pathway] GO:0038026[reelin-mediated signaling pathway] GO:0042059[negative regulation of epidermal growth factor receptor signaling pathway] GO:0042177[negative regulation of protein catabolic process] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043025[neuronal cell body] GO:0043065[positive regulation of apoptotic process] GO:0043087[regulation of GTPase activity] GO:0043122[regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043184[vascular endothelial growth factor receptor 2 binding] GO:0043254[regulation of protein-containing complex assembly] GO:0043407[negative regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043507[positive regulation of JUN kinase activity] GO:0043539[protein serine/threonine kinase activator activity] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0043553[negative regulation of phosphatidylinositol 3-kinase activity] GO:0044300[cerebellar mossy fiber] GO:0044301[climbing fiber] GO:0044877[protein-containing complex binding] GO:0045087[innate immune response] GO:0045296[cadherin binding] GO:0045732[positive regulation of protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046330[positive regulation of JNK cascade] GO:0046580[negative regulation of Ras protein signal transduction] GO:0048147[negative regulation of fibroblast proliferation] GO:0048812[neuron projection morphogenesis] GO:0050680[negative regulation of epithelial cell proliferation] GO:0051721[protein phosphatase 2A binding] GO:0051726[regulation of cell cycle] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070273[phosphatidylinositol-4-phosphate binding] GO:0070317[negative regulation of G0 to G1 transition] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0071222[cellular response to lipopolysaccharide] GO:0071347[cellular response to interleukin-1] GO:0071356[cellular response to tumor necrosis factor] GO:0071364[cellular response to epidermal growth factor stimulus] GO:0071889[14-3-3 protein binding] GO:0071901[negative regulation of protein serine/threonine kinase activity] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0072577[endothelial cell apoptotic process] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090129[positive regulation of synapse maturation] GO:1900006[positive regulation of dendrite development] GO:1900744[regulation of p38MAPK cascade] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway] GO:1901800[positive regulation of proteasomal protein catabolic process] GO:1903896[positive regulation of IRE1-mediated unfolded protein response] GO:1990032[parallel fiber] GO:1990597[AIP1-IRE1 complex] GO:2001224[positive regulation of neuron migration] GO:2001235[positive regulation of apoptotic signaling pathway]
Q5VWQ8 [Direct mapping] Disabled homolog 2-interacting protein
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Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001525[angiogenesis] GO:0001933[negative regulation of protein phosphorylation] GO:0002376[immune system process] GO:0005096[GTPase activator activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0006986[response to unfolded protein] GO:0007049[cell cycle] GO:0007165[signal transduction] GO:0007252[I-kappaB phosphorylation] GO:0008285[negative regulation of cell population proliferation] GO:0008625[extrinsic apoptotic signaling pathway via death domain receptors] GO:0010596[negative regulation of endothelial cell migration] GO:0010633[negative regulation of epithelial cell migration] GO:0010719[negative regulation of epithelial to mesenchymal transition] GO:0010976[positive regulation of neuron projection development] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016525[negative regulation of angiogenesis] GO:0017124[SH3 domain binding] GO:0019900[kinase binding] GO:0019901[protein kinase binding] GO:0021814[cell motility involved in cerebral cortex radial glia guided migration] GO:0021819[layer formation in cerebral cortex] GO:0030139[endocytic vesicle] GO:0030163[protein catabolic process] GO:0030424[axon] GO:0030425[dendrite] GO:0030948[negative regulation of vascular endothelial growth factor receptor signaling pathway] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031434[mitogen-activated protein kinase kinase binding] GO:0031435[mitogen-activated protein kinase kinase kinase binding] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032266[phosphatidylinositol-3-phosphate binding] GO:0032809[neuronal cell body membrane] GO:0034144[negative regulation of toll-like receptor 4 signaling pathway] GO:0034260[negative regulation of GTPase activity] GO:0034620[cellular response to unfolded protein] GO:0035148[tube formation] GO:0035591[signaling adaptor activity] GO:0035924[cellular response to vascular endothelial growth factor stimulus] GO:0036312[phosphatidylinositol 3-kinase regulatory subunit binding] GO:0036324[vascular endothelial growth factor receptor-2 signaling pathway] GO:0038026[reelin-mediated signaling pathway] GO:0042059[negative regulation of epidermal growth factor receptor signaling pathway] GO:0042177[negative regulation of protein catabolic process] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043025[neuronal cell body] GO:0043065[positive regulation of apoptotic process] GO:0043087[regulation of GTPase activity] GO:0043122[regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043184[vascular endothelial growth factor receptor 2 binding] GO:0043254[regulation of protein-containing complex assembly] GO:0043407[negative regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043507[positive regulation of JUN kinase activity] GO:0043539[protein serine/threonine kinase activator activity] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0043553[negative regulation of phosphatidylinositol 3-kinase activity] GO:0044300[cerebellar mossy fiber] GO:0044301[climbing fiber] GO:0044877[protein-containing complex binding] GO:0045087[innate immune response] GO:0045296[cadherin binding] GO:0045732[positive regulation of protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046330[positive regulation of JNK cascade] GO:0046580[negative regulation of Ras protein signal transduction] GO:0048147[negative regulation of fibroblast proliferation] GO:0048812[neuron projection morphogenesis] GO:0050680[negative regulation of epithelial cell proliferation] GO:0051721[protein phosphatase 2A binding] GO:0051726[regulation of cell cycle] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070273[phosphatidylinositol-4-phosphate binding] GO:0070317[negative regulation of G0 to G1 transition] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0071222[cellular response to lipopolysaccharide] GO:0071347[cellular response to interleukin-1] GO:0071356[cellular response to tumor necrosis factor] GO:0071364[cellular response to epidermal growth factor stimulus] GO:0071889[14-3-3 protein binding] GO:0071901[negative regulation of protein serine/threonine kinase activity] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0072577[endothelial cell apoptotic process] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090129[positive regulation of synapse maturation] GO:1900006[positive regulation of dendrite development] GO:1900744[regulation of p38MAPK cascade] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway] GO:1901800[positive regulation of proteasomal protein catabolic process] GO:1903896[positive regulation of IRE1-mediated unfolded protein response] GO:1990032[parallel fiber] GO:1990597[AIP1-IRE1 complex] GO:2001224[positive regulation of neuron migration] GO:2001235[positive regulation of apoptotic signaling pathway]
Q5VWQ8 [Direct mapping] Disabled homolog 2-interacting protein
Show all
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001525[angiogenesis] GO:0001933[negative regulation of protein phosphorylation] GO:0002376[immune system process] GO:0005096[GTPase activator activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0006986[response to unfolded protein] GO:0007049[cell cycle] GO:0007165[signal transduction] GO:0007252[I-kappaB phosphorylation] GO:0008285[negative regulation of cell population proliferation] GO:0008625[extrinsic apoptotic signaling pathway via death domain receptors] GO:0010596[negative regulation of endothelial cell migration] GO:0010633[negative regulation of epithelial cell migration] GO:0010719[negative regulation of epithelial to mesenchymal transition] GO:0010976[positive regulation of neuron projection development] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016525[negative regulation of angiogenesis] GO:0017124[SH3 domain binding] GO:0019900[kinase binding] GO:0019901[protein kinase binding] GO:0021814[cell motility involved in cerebral cortex radial glia guided migration] GO:0021819[layer formation in cerebral cortex] GO:0030139[endocytic vesicle] GO:0030163[protein catabolic process] GO:0030424[axon] GO:0030425[dendrite] GO:0030948[negative regulation of vascular endothelial growth factor receptor signaling pathway] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031434[mitogen-activated protein kinase kinase binding] GO:0031435[mitogen-activated protein kinase kinase kinase binding] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032266[phosphatidylinositol-3-phosphate binding] GO:0032809[neuronal cell body membrane] GO:0034144[negative regulation of toll-like receptor 4 signaling pathway] GO:0034260[negative regulation of GTPase activity] GO:0034620[cellular response to unfolded protein] GO:0035148[tube formation] GO:0035591[signaling adaptor activity] GO:0035924[cellular response to vascular endothelial growth factor stimulus] GO:0036312[phosphatidylinositol 3-kinase regulatory subunit binding] GO:0036324[vascular endothelial growth factor receptor-2 signaling pathway] GO:0038026[reelin-mediated signaling pathway] GO:0042059[negative regulation of epidermal growth factor receptor signaling pathway] GO:0042177[negative regulation of protein catabolic process] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043025[neuronal cell body] GO:0043065[positive regulation of apoptotic process] GO:0043087[regulation of GTPase activity] GO:0043122[regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043184[vascular endothelial growth factor receptor 2 binding] GO:0043254[regulation of protein-containing complex assembly] GO:0043407[negative regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043507[positive regulation of JUN kinase activity] GO:0043539[protein serine/threonine kinase activator activity] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0043553[negative regulation of phosphatidylinositol 3-kinase activity] GO:0044300[cerebellar mossy fiber] GO:0044301[climbing fiber] GO:0044877[protein-containing complex binding] GO:0045087[innate immune response] GO:0045296[cadherin binding] GO:0045732[positive regulation of protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046330[positive regulation of JNK cascade] GO:0046580[negative regulation of Ras protein signal transduction] GO:0048147[negative regulation of fibroblast proliferation] GO:0048812[neuron projection morphogenesis] GO:0050680[negative regulation of epithelial cell proliferation] GO:0051721[protein phosphatase 2A binding] GO:0051726[regulation of cell cycle] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070273[phosphatidylinositol-4-phosphate binding] GO:0070317[negative regulation of G0 to G1 transition] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0071222[cellular response to lipopolysaccharide] GO:0071347[cellular response to interleukin-1] GO:0071356[cellular response to tumor necrosis factor] GO:0071364[cellular response to epidermal growth factor stimulus] GO:0071889[14-3-3 protein binding] GO:0071901[negative regulation of protein serine/threonine kinase activity] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:0072577[endothelial cell apoptotic process] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090129[positive regulation of synapse maturation] GO:1900006[positive regulation of dendrite development] GO:1900744[regulation of p38MAPK cascade] GO:1900747[negative regulation of vascular endothelial growth factor signaling pathway] GO:1901800[positive regulation of proteasomal protein catabolic process] GO:1903896[positive regulation of IRE1-mediated unfolded protein response] GO:1990032[parallel fiber] GO:1990597[AIP1-IRE1 complex] GO:2001224[positive regulation of neuron migration] GO:2001235[positive regulation of apoptotic signaling pathway]
A0A3B3ITG3 [Direct mapping] Disabled homolog 2-interacting protein
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SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096[GTPase activator activity] GO:0007165[signal transduction] GO:0008285[negative regulation of cell population proliferation] GO:0016525[negative regulation of angiogenesis] GO:0030948[negative regulation of vascular endothelial growth factor receptor signaling pathway] GO:0038026[reelin-mediated signaling pathway] GO:0043065[positive regulation of apoptotic process] GO:0043087[regulation of GTPase activity]