DISEASES

Disease-gene associations mined from literature

Literature associating EMP2 and bladder urothelial carcinoma

EMP2 [ENSP00000352540]

Epithelial membrane protein 2; Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation . Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion . Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation . Regulates cell migration and cell contraction through PTK2 and SRC activation (PubMed:21637765, PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 . Positively regulates cell proliferation . Plays a role during cell death and cell blebbing . Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway . Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 . May play a role in glomerular filtration (By similarity). ECO:0000269|PubMed:12107182, ECO:0000269|PubMed:16216233, ECO:0000269|PubMed:16487956, ECO:0000269|PubMed:19494199, ECO:0000269|PubMed:21637765, ECO:0000269|PubMed:22728127, ECO:0000269|PubMed:23334331, ECO:0000269|PubMed:23439602,; Belongs to the PMP-22/EMP/MP20 family.

Synonyms:  EMP2,  EMP2p,  hEMP2,  P54851,  P54851p ...

Linkouts:  STRING  Pharos  UniProt  OMIM