EDNRA gene

endothelin receptor type A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

From UniProt:

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.

From NCBI Gene:

  • Mandibulofacial dysostosis with alopecia
  • Migraine

From UniProt:

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. [MIM:616367]

Cytogenetic Location: 4q31.22, which is the long (q) arm of chromosome 4 at position 31.22

Molecular Location: base pairs 147,480,917 to 147,544,954 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q31.22, which is the long (q) arm of chromosome 4 at position 31.22
  • ET-A
  • ETA
  • ETA-R
  • ETAR
  • ETRA
  • hET-AR
  • MFDA