EMP2

Chr 16AR

epithelial membrane protein 2

Also known as: XMP

NCBI Gene: 2013 ENSG00000213853 UniProt: P54851 OMIM: 602334

The EMP2 protein is a tetraspan membrane protein that regulates cell membrane composition by controlling protein surface expression and modulating integrin function, focal adhesions, and angiogenesis. Mutations cause nephrotic syndrome type 10, a kidney disorder affecting glomerular filtration, with autosomal recessive inheritance. The gene shows low constraint against loss-of-function variants (LOEUF 1.88), consistent with recessive disease requiring biallelic mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]

OMIM ResearchGenerating clinical summary…