Endometriosis Knowledgebase

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Gene id

1909

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

EDNRA Gene UCSC Ensembl

Aliases

ET-A, ETA, ETA-R, ETAR, ETRA, MFDA, hET-AR

Gene name

endothelin receptor type A

Alternate names

endothelin-1 receptor, G protein-coupled receptor, endothelin receptor subtype A, endothelin-1-specific receptor,

Gene location

4q31.22-q31.23 (147480916: 147544953) Exons: 8 NC_000004.12

Gene summary(Entrez)

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]

OMIM

131243

Protein Summary

Protein general information

P25101

Name: Endothelin 1 receptor (Endothelin A receptor) (ET A) (ETA R) (hET AR)

Length: 427 Mass: 48,722

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, col

Sequence

METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLPSNGSMHNYCPQQTKI
TSAFKYINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIASLALGDLIYVVIDLPINVFKLLAGRWPFDH
NDFGVFLCKLFPFLQKSSVGITVLNLCALSVDRYRAVASWSRVQGIGIPLVTAIEIVSIWILSFILAIPEAIGFV
MVPFEYRGEQHKTCMLNATSKFMEFYQDVKDWWLFGFYFCMPLVCTAIFYTLMTCEMLNRRNGSLRIALSEHLKQ
RREVAKTVFCLVVIFALCWFPLHLSRILKKTVYNEMDKNRCELLSFLLLMDYIGINLATMNSCINPIALYFVSKK
FKNCFQSCLCCCCYQSKSLMTSVPMNGTSIQWKNHDQNNHNTDRSSHKDSMN

Structural information

Interpro:	IPR000499 IPR002175 IPR000276 IPR017452
Prosite:	PS00237 PS50262
Pfam:	PF00001
DIP:	48718
STRING:	ENSP00000315011;

Other Databases

GeneCards: EDNRA; Malacards: EDNRA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001569	branching involved in blo od vessel morphogenesis	IEA	biological_process
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001821	histamine secretion	IEA	biological_process
GO:0003094	glomerular filtration	IEA	biological_process
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0004962	endothelin receptor activ ity	NAS	molecular_function
GO:0004962	endothelin receptor activ ity	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006939	smooth muscle contraction	NAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	NAS	biological_process
GO:0007190	activation of adenylate c yclase activity	TAS	biological_process
GO:0007202	activation of phospholipa se C activity	TAS	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	TAS	biological_process
GO:0007205	protein kinase C-activati ng G-protein coupled rece ptor signaling pathway	IEA	biological_process
GO:0007266	Rho protein signal transd uction	IEA	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007585	respiratory gaseous excha nge	ISS	biological_process
GO:0008217	regulation of blood press ure	IEA	biological_process
GO:0008283	cell proliferation	NAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0014032	neural crest cell develop ment	IEA	biological_process
GO:0014824	artery smooth muscle cont raction	IMP	biological_process
GO:0015758	glucose transport	ISS	biological_process
GO:0019233	sensory perception of pai n	IEA	biological_process
GO:0030315	T-tubule	IEA	cellular_component
GO:0030818	negative regulation of cA MP biosynthetic process	IEA	biological_process
GO:0031965	nuclear membrane	IEA	cellular_component
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0042310	vasoconstriction	IMP	biological_process
GO:0042482	positive regulation of od ontogenesis	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043084	penile erection	IEA	biological_process
GO:0043278	response to morphine	IEA	biological_process
GO:0045121	membrane raft	IEA	cellular_component
GO:0048144	fibroblast proliferation	IEA	biological_process
GO:0048484	enteric nervous system de velopment	IEA	biological_process
GO:0048659	smooth muscle cell prolif eration	IEA	biological_process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological_process
GO:0050729	positive regulation of in flammatory response	IEA	biological_process
GO:0051281	positive regulation of re lease of sequestered calc ium ion into cytosol	IEA	biological_process
GO:0051482	positive regulation of cy tosolic calcium ion conce ntration involved in phos pholipase C-activating G- protein coupled signaling pathway	IEA	biological_process
GO:0060137	maternal process involved in parturition	IEA	biological_process
GO:0060322	head development	IEA	biological_process
GO:0070374	positive regulation of ER K1 and ERK2 cascade	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0086100	endothelin receptor signa ling pathway	IEA	biological_process
GO:0090023	positive regulation of ne utrophil chemotaxis	IEA	biological_process
GO:0090184	positive regulation of ki dney development	IEA	biological_process
GO:0001569	branching involved in blo od vessel morphogenesis	IEA	biological_process
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001821	histamine secretion	IEA	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	IEA	biological_process
GO:0003094	glomerular filtration	IEA	biological_process
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004962	endothelin receptor activ ity	IEA	molecular_function
GO:0004962	endothelin receptor activ ity	IEA	molecular_function
GO:0004962	endothelin receptor activ ity	NAS	molecular_function
GO:0004962	endothelin receptor activ ity	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006939	smooth muscle contraction	TAS	biological_process
GO:0006939	smooth muscle contraction	NAS	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	NAS	biological_process
GO:0007190	activation of adenylate c yclase activity	TAS	biological_process
GO:0007202	activation of phospholipa se C activity	TAS	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	TAS	biological_process
GO:0007205	protein kinase C-activati ng G-protein coupled rece ptor signaling pathway	IEA	biological_process
GO:0007266	Rho protein signal transd uction	IEA	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007585	respiratory gaseous excha nge	IEA	biological_process
GO:0007585	respiratory gaseous excha nge	ISS	biological_process
GO:0008217	regulation of blood press ure	IEA	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0008283	cell proliferation	NAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0014032	neural crest cell develop ment	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0014824	artery smooth muscle cont raction	IMP	biological_process
GO:0015758	glucose transport	IEA	biological_process
GO:0015758	glucose transport	ISS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0019233	sensory perception of pai n	IEA	biological_process
GO:0030315	T-tubule	IEA	cellular_component
GO:0030818	negative regulation of cA MP biosynthetic process	IEA	biological_process
GO:0031965	nuclear membrane	IEA	cellular_component
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0042310	vasoconstriction	IEA	biological_process
GO:0042310	vasoconstriction	IEA	biological_process
GO:0042310	vasoconstriction	IMP	biological_process
GO:0042482	positive regulation of od ontogenesis	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043084	penile erection	IEA	biological_process
GO:0043278	response to morphine	IEA	biological_process
GO:0045121	membrane raft	IEA	cellular_component
GO:0048144	fibroblast proliferation	IEA	biological_process
GO:0048484	enteric nervous system de velopment	IEA	biological_process
GO:0048659	smooth muscle cell prolif eration	IEA	biological_process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological_process
GO:0050729	positive regulation of in flammatory response	IEA	biological_process
GO:0051281	positive regulation of re lease of sequestered calc ium ion into cytosol	IEA	biological_process
GO:0051482	positive regulation of cy tosolic calcium ion conce ntration involved in phos pholipase C-activating G- protein coupled signaling pathway	IEA	biological_process
GO:0051928	positive regulation of ca lcium ion transport	IEA	biological_process
GO:0060137	maternal process involved in parturition	IEA	biological_process
GO:0060322	head development	IEA	biological_process
GO:0070374	positive regulation of ER K1 and ERK2 cascade	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0086100	endothelin receptor signa ling pathway	IEA	biological_process
GO:0090023	positive regulation of ne utrophil chemotaxis	IEA	biological_process
GO:0090184	positive regulation of ki dney development	IEA	biological_process
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0004962	endothelin receptor activ ity	NAS	molecular_function
GO:0004962	endothelin receptor activ ity	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006939	smooth muscle contraction	TAS	biological_process
GO:0006939	smooth muscle contraction	NAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	NAS	biological_process
GO:0007190	activation of adenylate c yclase activity	TAS	biological_process
GO:0007202	activation of phospholipa se C activity	TAS	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	TAS	biological_process
GO:0007585	respiratory gaseous excha nge	ISS	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0008283	cell proliferation	NAS	biological_process
GO:0014824	artery smooth muscle cont raction	IMP	biological_process
GO:0015758	glucose transport	ISS	biological_process
GO:0042310	vasoconstriction	IMP	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04080  Neuroactive ligand-receptor interaction
hsa04024  cAMP signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04924  Renin secretion
hsa04270  Vascular smooth muscle contraction

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Asthma	PMID: 17470272
Congenital absence of the vas deferens (CAVD)	PMID: 24958810
Congenital bilateral absence of the vas deferens (CBAVD)	PMID: 20100616
Endometriosis	PMID: 19626996
Glaucoma	PMID: 15988412
Kidney disease	PMID: 19578796
Mandibulofacial dysostosis with alopecia	OMIM: 131243
Preeclampsia	PMID: 17437213
Endometriosis	INFBASE19626996
Sclerosis	PMID: 16947775

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19626996	Endometrio sis			61 (48 cases of endometriosis (EM), control s amples were eut opic endometriu m from 13 cases of cervical in traepithelial n eoplasia (CIN))	Female infertility	ET(A)R ET-1	Show abstract