EMP2

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]

Description

Epithelial membrane protein 2

Tissue specificity

Tissue enhanced (lung)

Subcell location

Nucleoplasm, Cytosol

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

16 (10528422 - 10580632)

Ensembl ID

ENSG00000213853  (ver. 103.38)

Orthologs

Mouse Emp2: ENSMUSG00000022505

UniProt

P54851

neXtProt

NX_P54851

Human splice variants
Mouse splice variants

Protein structure