EMP2

Epithelial membrane protein 2 is a protein that in humans is encoded by the EMP2 gene.^[5][6][7][8]

EMP2
Identifiers
Aliases	EMP2, NPHS10, XMP, epithelial membrane protein 2
External IDs	OMIM: 602334; MGI: 1098726; HomoloGene: 1089; GeneCards: EMP2; OMA:EMP2 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.13 Start 10,528,422 bp[1] End 10,580,632 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A1|16 5.54 cM Start 10,099,613 bp[2] End 10,131,832 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh skin of arm lower lobe of lung vulva right lung upper lobe of lung upper lobe of left lung nipple gingival epithelium human penis Top expressed in right lung lobe left lung left lung lobe hair follicle skin of external ear lip skin of abdomen esophagus transitional epithelium of urinary bladder calvaria More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein kinase binding kinase binding protein binding integrin binding Cellular component caveola cytoplasm Golgi apparatus Golgi membrane nucleus apical part of cell apical plasma membrane membrane cell surface membrane raft plasma membrane cytoplasmic vesicle integral component of membrane cytosol Biological process regulation of kinase activity cell death T cell mediated cytotoxicity regulation of glomerular filtration regulation of angiogenesis positive regulation of cell-matrix adhesion cell-matrix adhesion actin filament organization bleb assembly protein localization to plasma membrane early endosome to late endosome transport positive regulation of cell population proliferation regulation of cell-matrix adhesion membrane raft assembly caveola assembly cell migration regulation of endothelial cell migration activation of protein kinase activity protein localization to cell surface actin-mediated cell contraction positive regulation of integrin-mediated signaling pathway regulation of vasculogenesis cell adhesion blood vessel endothelial cell migration cell population proliferation embryo implantation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2013 13731 Ensembl ENSG00000213853 ENSMUSG00000022505 UniProt P54851 O88662 RefSeq (mRNA) NM_001424 NM_007929 RefSeq (protein) NP_001415 NP_031955 Location (UCSC) Chr 16: 10.53 – 10.58 Mb Chr 16: 10.1 – 10.13 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Mutations in EMP2 cause childhood-onset nephrotic syndrome.^[9]