EMP2
Sign in to saveAlso known as NPHS10, XMP, epithelial membrane protein 2
Epithelial membrane protein 2 is a protein that in humans is encoded by the EMP2 gene.
Gene data
EMP2- Name
- epithelial membrane protein 2
- Type
- protein-coding
- Aliases
- XMP
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].
via MyGene.info
Gene · Ensembl
epithelial membrane protein 2
- Symbol
- EMP2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:10,528,422-10,580,857
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- exact match
- identifiers.org/ncbigene/2013
- HomoloGene ID
- 1089
- genomic start
- 10622279
- genomic end
- 10580632
- cytogenetic location
- 16p13.13
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- Clinical significance
- References
- Further reading
Epithelial membrane protein 2 is a protein that in humans is encoded by the EMP2 gene.
==Clinical significance== Mutations in EMP2 cause childhood-onset nephrotic syndrome.