ADGRG2
Function
Orphan receptor. Could be involved in a signal transduction pathway controlling epididymal function and male fertility. May regulate fluid exchange within epididymis.
Involvement in disease
Congenital bilateral aplasia of the vas deferens, X-linked
CBAVDX
A disease characterized by bilateral absence of vas deferens, obstructive azoospermia, and infertility.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Proteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit.
Highly glycosylated.
Sequence Similarities
Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
Tissue Specificity
Epididymis-specific expression (at protein level). Both subunits are associated with apical membranes of efferent ductule and proximal epididymal duct epithelia. Mainly expressed in the nonciliated principal cells of the proximal excurrent ducts. Specifically over-expressed in Ewing sarcomas but also up-regulated in a number of carcinomas derived from prostate, kidney or lung.
Cellular localization
- Apical cell membrane
- Multi-pass membrane protein
Alternative names
GPR64, HE6, TM7LN2, ADGRG2, Adhesion G-protein coupled receptor G2, G-protein coupled receptor 64, Human epididymis-specific protein 6, He6