Gene: EMP2

Alternate names for this Gene: XMP

Gene Summary: 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).

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.13

Description of this Gene: epithelial membrane protein 2

Type of Gene: protein-coding

rs11074889 in EMP2 gene and Attention deficit hyperactivity disorder PMID 20732626 2010 Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.

rs587777482 in EMP2 gene and NEPHROTIC SYNDROME, TYPE 10 PMID 24814193 2014 Mutations in EMP2 cause childhood-onset nephrotic syndrome.

rs9937170 in EMP2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.