EDNRA

Function

Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.

Involvement in disease

Mandibulofacial dysostosis with alopecia

MFDA

A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRA sub-subfamily.

Tissue Specificity

Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels.

Cellular localization

• Cell membrane
• Multi-pass membrane protein

Alternative names

ETA, ETRA, EDNRA, Endothelin-1 receptor, Endothelin receptor type A, ET-A, ETA-R, hET-AR

Database links

swissprot:P25101 omim:131243 entrezGene:1909 genbank:NM_174308 genbank:NM_001957