Disease-gene associations mined from literature

Literature associating EMP2 and focal segmental glomerulosclerosis 8

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. 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); Belongs to the PMP-22/EMP/MP20 family.

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

Linkouts:  STRING  Pharos  UniProt  OMIM