AutismKB 2.0

Annotation Details for EMP2


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Basic Information Top
Gene Symbol:EMP2 ( MGC9056,XMP )
Gene Full Name: epithelial membrane protein 2
Band: 16p13.13
Quick LinksEntrez ID:2013; OMIM: 602334; Uniprot ID:EMP2_HUMAN; ENSEMBL ID: ENSG00000213853; HGNC ID: 3334
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005634ISS-nucleus-
GO:0005737IDA-cytoplasm21637765
GO:0005794ISS-Golgi apparatus-
GO:0005829IEA-cytosol-
GO:0005886IDA-plasma membrane12107182
GO:0005901ISSNOT colocalizes_withcaveola-
GO:0009986ISS-cell surface-
GO:0016021IEA-integral component of membrane-
GO:0016324IEA-apical plasma membrane-
GO:0031410ISScolocalizes_withcytoplasmic vesicle-
GO:0045121IDA-membrane raft21637765
GO:0045177ISS-apical part of cell-
GO ID Evidence Qualifier GO_term References
GO:0005178IPI-integrin binding16216233
GO:0005515IPI-protein binding12107182
GO:0019900IPI-kinase binding19494199
GO:0019901IPI-protein kinase binding21637765
GO ID Evidence Qualifier GO_term References
GO:0001765ISS-membrane raft assembly-
GO:0001913ISS-T cell mediated cytotoxicity-
GO:0001954IDA-positive regulation of cell-matrix adhesion16216233
GO:0003093IDA-regulation of glomerular filtration24814193
GO:0007015IDA-actin filament organization19494199
GO:0007155IDA-cell adhesion19494199
GO:0007160IDA-cell-matrix adhesion19494199
GO:0007566IMP-embryo implantation16487956
GO:0008219IDA-cell death12107182
GO:0008283IDANOTcell proliferation21637765
GO:0008284IMP-positive regulation of cell proliferation24814193
GO:0010594IDA-regulation of endothelial cell migration23334331
GO:0016477IDA-cell migration21637765
GO:0032060IDA-bleb assembly12107182
GO:0032147IDA-activation of protein kinase activity21637765
GO:0034394IMP-protein localization to cell surface16216233
GO:0043534IDA-blood vessel endothelial cell migration23439602
GO:0043549IDA-regulation of kinase activity18469192
GO:0045022ISS-early endosome to late endosome transport-
GO:0045765IDA-regulation of angiogenesis23334331
GO:0045765IMP-regulation of angiogenesis23439602
GO:0070252IDA-actin-mediated cell contraction18469192
GO:0070836ISSNOTcaveola assembly-
GO:0072659ISS-protein localization to plasma membrane-
GO:2001046IDA-positive regulation of integrin-mediated signaling pathway16216233
GO:2001212IDA-regulation of vasculogenesis23334331
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EPM2AIP1EMP210832812782127 Two-hybrid
EPM2AIP1EMP211518612782127 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1098726
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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