• Gene id: 1909

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: 9     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 sec
• OMIM: 131243

SNPs

rs5335

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.147542688G>A
NC_000004.12   g.147542688G>C
NC_000004.11   g.148463840G>A
NC_000004.11   g.148463840G>C
NG_013343.1   g.66772G>A
NG_013343.1   g.66772G>C
NM_001957.4   c.*70G>A
NM_001957.4   c.*70G>C
NM_001957.3   c.*70G>A
NM_001957.3   c.*70G>C
NR_04595  

rs1801708

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.147481217G>A
NC_000004.12   g.147481217G>C
NC_000004.11   g.148402369G>A
NC_000004.11   g.148402369G>C
NG_013343.1   g.5301G>A
NG_013343.1   g.5301G>C
NM_001957.4   c.-230G>A
NM_001957.4   c.-230G>C
NM_001957.3   c.-230G>A
NM_001957.3   c.-230G>C
NR_045  

Protein Summary

• Protein general information: P25101  
  • Name: Endothelin 1 receptor (Endothelin receptor type A) (ET A) (ETA R) (hET AR)
  • Length: 427  
  • Mass: 48,722
• Sequence:

  METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLPSNGSMHNYCPQQTKI
  TSAFKYINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIASLALGDLIYVVIDLPINVFKLLAGRWPFDH
  NDFGVFLCKLFPFLQKSSVGITVLNLCALSVDRYRAVASWSRVQGIGIPLVTAIEIVSIWILSFILAIPEAIGFV
  MVPFEYRGEQHKTCMLNATSKFMEFYQDVKDWWLFGFYFCMPLVCTAIFYTLMTCEMLNRRNGSLRIALSEHLKQ
  RREVAKTVFCLVVIFALCWFPLHLSRILKKTVYNEMDKNRCELLSFLLLMDYIGINLATMNSCINPIALYFVSKK
  FKNCFQSCLCCCCYQSKSLMTSVPMNGTSIQWKNHDQNNHNTDRSSHKDSMN

• Structural information:
  • Interpro: IPR000499  IPR002175  IPR000276  IPR017452  
  • Prosite: PS00237 PS50262
  • 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 blood vessel morphogenesis	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001821	histamine secretion	IEA	biological process
GO:0003094	glomerular filtration	IEA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0004962	endothelin receptor activity	NAS	molecular function
GO:0004962	endothelin receptor activity	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 plasma membrane	TAS	cellular component
GO:0006939	smooth muscle contraction	NAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007186	G-protein coupled receptor signaling pathway	NAS	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007202	activation of phospholipase C activity	TAS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	TAS	biological process
GO:0007205	protein kinase C-activating G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007266	Rho protein signal transduction	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0007585	respiratory gaseous exchange	ISS	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008283	cell proliferation	NAS	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0014824	artery smooth muscle contraction	IMP	biological process
GO:0015758	glucose transport	ISS	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0030818	negative regulation of cAMP biosynthetic process	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0042310	vasoconstriction	IMP	biological process
GO:0042482	positive regulation of odontogenesis	IEA	biological process
GO:0043066	negative regulation of apoptotic 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 development	IEA	biological process
GO:0048659	smooth muscle cell proliferation	IEA	biological process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological process
GO:0050729	positive regulation of inflammatory response	IEA	biological process
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	IEA	biological process
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase 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 ERK1 and ERK2 cascade	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0086100	endothelin receptor signaling pathway	IEA	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IEA	biological process
GO:0090184	positive regulation of kidney development	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001821	histamine secretion	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0003094	glomerular filtration	IEA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0004962	endothelin receptor activity	IEA	molecular function
GO:0004962	endothelin receptor activity	IEA	molecular function
GO:0004962	endothelin receptor activity	NAS	molecular function
GO:0004962	endothelin receptor activity	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 plasma 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 receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	NAS	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007202	activation of phospholipase C activity	TAS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	TAS	biological process
GO:0007205	protein kinase C-activating G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007266	Rho protein signal transduction	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0007585	respiratory gaseous exchange	IEA	biological process
GO:0007585	respiratory gaseous exchange	ISS	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008283	cell proliferation	TAS	biological process
GO:0008283	cell proliferation	NAS	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0014824	artery smooth muscle contraction	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 membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019233	sensory perception of pain	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0030818	negative regulation of cAMP biosynthetic process	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0032496	response to lipopolysaccharide	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 odontogenesis	IEA	biological process
GO:0043066	negative regulation of apoptotic 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 development	IEA	biological process
GO:0048659	smooth muscle cell proliferation	IEA	biological process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological process
GO:0050729	positive regulation of inflammatory response	IEA	biological process
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	IEA	biological process
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway	IEA	biological process
GO:0051928	positive regulation of calcium 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 ERK1 and ERK2 cascade	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0086100	endothelin receptor signaling pathway	IEA	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IEA	biological process
GO:0090184	positive regulation of kidney development	IEA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0004962	endothelin receptor activity	NAS	molecular function
GO:0004962	endothelin receptor activity	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 plasma 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 receptor signaling pathway	NAS	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007202	activation of phospholipase C activity	TAS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	TAS	biological process
GO:0007585	respiratory gaseous exchange	ISS	biological process
GO:0008283	cell proliferation	TAS	biological process
GO:0008283	cell proliferation	NAS	biological process
GO:0014824	artery smooth muscle contraction	IMP	biological process
GO:0015758	glucose transport	ISS	biological process
GO:0042310	vasoconstriction	IMP	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Cancer (glaucoma)	GAD: 15988412
Atherosclerosis	GAD: 17525706
Cardiovascular disease	GAD: 11601839
Cerebral infarction	GAD: 17016617
Intracranial aneurysm	GAD: 22286173
Hypertension	GAD: 12544508
Restenosis	GAD: 12082592
Cystic fibrosis	GAD: 20100616
Glaucoma	GAD: 15988412
Asthma	GAD: 17470272
Bronchial hyperreactivity	GAD: 19247692
Migraine disorder	GAD: 11376172
Stroke	GAD: 16002759
Alzheimer's disease	GAD: 19141999
Chronic renal failure	GAD: 21085059
Kidney diseases	GAD: 19578796
Preeclampsia	GAD: 17437213
Female infertility	INFBASE: 19626996
Endometriosis	INFBASE: 19626996
Congenital absence of the vas deferens (CAVD)	MIK: 24958810
Male factor infertility	MIK: 24958810
Congenital bilateral absence of the vas deferens (CBAVD)	MIK: 20100616
Mandibulofacial dysostosis with alopecia	OMIM: 131243
Hypertrophy	GAD: 19593212
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Congenital absence of the vas deferens	MIK: 24958810
Congenital bilateral absence of the vas deferens (CBAVD)	MIK: 20100616
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20100616	Congenital bilateral absence of the vas deferens (CBAVD)	TGF-?1 (rs 1982073, rs 1800471), EDNRA (rs 5335, rs 1801708)		131 (80 subjects with CBAVD, 51 healthy male controls)	Male infertility
24958810	Congenital absence of the vas deferens	p.Phe508del, p.Arg117His, IVS8-T5 allele	Indian	60 consecutive infertile males with a diagnosis of CAVD	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq