Entity Details

Primary name EDNRA
Entity type gene
Source Source Link

Details

PrimaryID1909
RefseqGeneNG_013343
SymbolEDNRA
Nameendothelin receptor type A
Chromosome4
Location4q31.22-q31.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEDNRA_HUMAN

GO terms

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GOName
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004962 endothelin receptor activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006939 smooth muscle contraction
GO:0007165 signal transduction
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007190 activation of adenylate cyclase activity
GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
GO:0007202 activation of phospholipase C activity
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007507 heart development
GO:0007585 respiratory gaseous exchange by respiratory system
GO:0008217 regulation of blood pressure
GO:0008283 cell population proliferation
GO:0010827 regulation of glucose transmembrane transport
GO:0014032 neural crest cell development
GO:0014824 artery smooth muscle contraction
GO:0042310 vasoconstriction
GO:0048484 enteric nervous system development
GO:0060322 head development

Diseases

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Disease IDSourceNameDescription
616367 OMIMMandibulofacial 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. The disease is caused by variants affecting the gene represented in this entry.