Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1909
Gene name	Endothelin receptor type A
Gene symbol	EDNRA
Synonyms (NCBI Gene)	ET-AETAETA-RETARETRAMFDAhET-AR
Chromosome	4
Chromosome location	4q31.22-q31.23
Summary	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

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205230	A>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs876657388	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005749	hsa-miR-203a-3p	ImmunofluorescenceIn situ hybridizationLuciferase reporter assayNorthern blotqRT-PCRWestern blot	20827281
MIRT005753	hsa-miR-27b-3p	ImmunofluorescenceIn situ hybridizationLuciferase reporter assayNorthern blotqRT-PCRWestern blot	20827281
MIRT005756	hsa-miR-224-5p	ImmunofluorescenceIn situ hybridizationLuciferase reporter assayNorthern blotqRT-PCRWestern blot	20827281
MIRT007344	hsa-miR-200c-3p	Luciferase reporter assayqRT-PCRWestern blot	23272142
MIRT952750	hsa-miR-1256	CLIP-seq
MIRT740098	hsa-miR-1263	CLIP-seq
MIRT952751	hsa-miR-151-3p	CLIP-seq
MIRT952752	hsa-miR-3650	CLIP-seq
MIRT952753	hsa-miR-4265	CLIP-seq
MIRT952754	hsa-miR-4296	CLIP-seq
MIRT952755	hsa-miR-4299	CLIP-seq
MIRT952756	hsa-miR-4322	CLIP-seq
MIRT952757	hsa-miR-4456	CLIP-seq
MIRT952758	hsa-miR-489	CLIP-seq
MIRT952759	hsa-miR-520d-5p	CLIP-seq
MIRT952760	hsa-miR-524-5p	CLIP-seq
MIRT952761	hsa-miR-548q	CLIP-seq
MIRT952762	hsa-miR-555	CLIP-seq
MIRT952763	hsa-miR-668	CLIP-seq
MIRT952764	hsa-miR-676	CLIP-seq
MIRT740098	hsa-miR-1263	CLIP-seq
MIRT952765	hsa-miR-1266	CLIP-seq
MIRT740100	hsa-miR-3143	CLIP-seq
MIRT740101	hsa-miR-323-3p	CLIP-seq
MIRT952766	hsa-miR-3646	CLIP-seq
MIRT952767	hsa-miR-3664-3p	CLIP-seq
MIRT952768	hsa-miR-425	CLIP-seq
MIRT952769	hsa-miR-4269	CLIP-seq
MIRT952770	hsa-miR-4424	CLIP-seq
MIRT952771	hsa-miR-4514	CLIP-seq
MIRT952772	hsa-miR-4518	CLIP-seq
MIRT952773	hsa-miR-4692	CLIP-seq
MIRT952774	hsa-miR-4742-5p	CLIP-seq
MIRT740102	hsa-miR-4789-3p	CLIP-seq
MIRT740099	hsa-miR-543	CLIP-seq
MIRT740103	hsa-miR-642b	CLIP-seq
MIRT1982135	hsa-miR-3074-3p	CLIP-seq
MIRT2448669	hsa-miR-361-5p	CLIP-seq
MIRT2448670	hsa-miR-4735-5p	CLIP-seq
MIRT2448671	hsa-miR-4795-3p	CLIP-seq
MIRT2448672	hsa-miR-545	CLIP-seq
MIRT2521100	hsa-miR-137	CLIP-seq
MIRT2521101	hsa-miR-200b	CLIP-seq
MIRT2521102	hsa-miR-200c	CLIP-seq
MIRT2521103	hsa-miR-429	CLIP-seq
MIRT2521104	hsa-miR-488	CLIP-seq
MIRT2521105	hsa-miR-548n	CLIP-seq
MIRT2521106	hsa-miR-554	CLIP-seq
MIRT2521100	hsa-miR-137	CLIP-seq
MIRT2521101	hsa-miR-200b	CLIP-seq
MIRT2521102	hsa-miR-200c	CLIP-seq
MIRT2679773	hsa-miR-3160-5p	CLIP-seq
MIRT2521103	hsa-miR-429	CLIP-seq
MIRT2679774	hsa-miR-4686	CLIP-seq
MIRT2521106	hsa-miR-554	CLIP-seq

106

Show/Hide all (106)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003015	Process	Heart process	IEA
GO:0003094	Process	Glomerular filtration	IEA
GO:0003207	Process	Cardiac chamber formation	IEA
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	IEA
GO:0003228	Process	Atrial cardiac muscle tissue development	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003357	Process	Noradrenergic neuron differentiation	IEA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	TAS	8702836
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004962	Function	Endothelin receptor activity	IBA
GO:0004962	Function	Endothelin receptor activity	IEA
GO:0004962	Function	Endothelin receptor activity	NAS	8611157, 9284755
GO:0005515	Function	Protein binding	IPI	19202075, 23597562
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1326535
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	30990108
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006939	Process	Smooth muscle contraction	NAS	9284755
GO:0006939	Process	Smooth muscle contraction	TAS	8114678
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	1326535
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	8611157
GO:0007190	Process	Activation of adenylate cyclase activity	TAS	8702836
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	8702836
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	TAS	1849646
GO:0007411	Process	Axon guidance	IEA
GO:0007507	Process	Heart development	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	ISS
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008283	Process	Cell population proliferation	TAS	8702836
GO:0009611	Process	Response to wounding	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010827	Process	Regulation of D-glucose transmembrane transport	IEA
GO:0014032	Process	Neural crest cell development	IEA
GO:0014033	Process	Neural crest cell differentiation	IEA
GO:0014034	Process	Neural crest cell fate commitment	IEA
GO:0014824	Process	Artery smooth muscle contraction	IMP	8982507
GO:0014829	Process	Vascular associated smooth muscle contraction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016322	Process	Neuron remodeling	IEA
GO:0030202	Process	Heparin proteoglycan metabolic process	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0032835	Process	Glomerulus development	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035904	Process	Aorta development	IEA
GO:0042310	Process	Vasoconstriction	IBA
GO:0042310	Process	Vasoconstriction	IEA
GO:0042310	Process	Vasoconstriction	IEA
GO:0042310	Process	Vasoconstriction	IMP	8982507
GO:0042415	Process	Norepinephrine metabolic process	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0044751	Process	Cellular response to human chorionic gonadotropin stimulus	IEA
GO:0048066	Process	Developmental pigmentation	IBA
GO:0048484	Process	Enteric nervous system development	IEA
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048675	Process	Axon extension	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060322	Process	Head development	IEA
GO:0060324	Process	Face development	IEA
GO:0060385	Process	Axonogenesis involved in innervation	IEA
GO:0061028	Process	Establishment of endothelial barrier	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0070294	Process	Renal sodium ion absorption	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IEA
GO:0071373	Process	Cellular response to luteinizing hormone stimulus	IEA
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0072011	Process	Glomerular endothelium development	IEA
GO:0072112	Process	Podocyte differentiation	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IBA
GO:0086100	Process	Endothelin receptor signaling pathway	IEA
GO:0086101	Process	Endothelin receptor signaling pathway involved in heart process	IEA
GO:0097018	Process	Renal albumin absorption	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	IEA
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:0097237	Process	Cellular response to toxic substance	IEA
GO:0097492	Process	Sympathetic neuron axon guidance	IEA
GO:0141156	Process	CAMP/PKA signal transduction	IDA	30990108
GO:1902287	Process	Semaphorin-plexin signaling pathway involved in axon guidance	IEA
GO:1903210	Process	Podocyte apoptotic process	IEA
GO:1903537	Process	Meiotic cell cycle process involved in oocyte maturation	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1905144	Process	Response to acetylcholine	IEA
GO:1905871	Process	Regulation of protein localization to cell leading edge	IEA
GO:2001259	Process	Positive regulation of cation channel activity	IDA	30990108

MIM	HGNC	e!Ensembl
131243	3179	ENSG00000151617

P25101

Protein name

Endothelin-1 receptor (Endothelin receptor type A) (ET-A) (ETA-R) (hET-AR)

Protein 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.

PDB

8HCQ , 8XVI , 8XVJ , 8XVK , 8XVL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	97 → 370	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

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

METLCLRASFWLALVGCVISDNPERYSTNLSNHVDDFTTFRGTELSFLVTTHQPTNLVLP
SNGSMHNYCPQQTKITSAFKYINTVISCTIFIVGMVGNATLLRIIYQNKCMRNGPNALIA
SLALGDLIYVVIDLPINVFKLLAGRWPFDHNDFGVFLCKLFPFLQKSSVGITVLNLCALS
VDRYRAVASWSRVQGIGIPLVTAIEIVSIWILSFILAIPEAIGFVMVPFEYRGEQHKTCM
LNATSKFMEFYQDVKDWWLFGFYFCMPLVCTAIFYTLMTCEMLNRRNGSLRIALSEHLKQ
RREVAKTVFCLVVIFALCWFPLHLSRILKKTVYNEMDKNRCELLSFLLLMDYIGINLATM
NSCINPIALYFVSKKFKNCFQSCLCCCCYQSKSLMTSVPMNGTSIQWKNHDQNNHNTDRS
SHKDSMN

Sequence length

427

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction Renin secretion Pathways in cancer		Peptide ligand-binding receptors G alpha (q) signalling events

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mandibulofacial dysostosis with alopecia	Pathogenic	rs786205230, rs876657388	RCV000170509 RCV000170510

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs192190120	RCV005925796
Cholangiocarcinoma	Benign	rs10305916	RCV005925116
EDNRA-related disorder	Likely benign; Benign	rs150937673, rs141331809, rs10305905	RCV003973486 RCV003920581 RCV003922882
Familial cancer of breast	Benign	rs4835412, rs10305916	RCV005916523 RCV005925114
Migraine with or without aura, susceptibility to, 1	Benign; Likely benign	rs146092355, rs71594223, rs10305924, rs141331809, rs201702493, rs10305905, rs2292764	RCV002501783 RCV002502011 RCV002500353 RCV002479002 RCV002479021 RCV002495427 RCV002495542
Migraine, resistance to	protective	rs1801708	RCV000018122
Ovarian serous cystadenocarcinoma	Benign	rs202159529	RCV005921418
Uterine carcinosarcoma	Benign	rs4835412, rs10305916	RCV005916524 RCV005925115

Show/Hide Text Mining Associations (75)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Airway Obstruction	Associate	17470272
Alzheimer Disease	Associate	19541930
Asthma	Associate	17470272, 18588753
Atherosclerosis	Associate	40076930
Auriculo condylar syndrome	Associate	24268655
Breast Neoplasms	Associate	15226779, 21424380, 26703564, 9459150
Calcinosis Cutis	Associate	30367951, 36717550
Capillary Leak Syndrome	Associate	26176954
Carcinogenesis	Associate	20452970
Carcinogenesis	Stimulate	28249901
Carcinoma Hepatocellular	Stimulate	28812426
Carcinoma in Situ	Associate	24373848
Carcinoma Non Small Cell Lung	Associate	28153500
Carcinoma Ovarian Epithelial	Associate	24530737
Cerebral Hemorrhage	Associate	31306060
Cerebrovascular Disorders	Associate	19460784
Chemical and Drug Induced Liver Injury	Associate	28812426
Colorectal Neoplasms	Associate	28708138, 31500382, 36453252, 38123303
Congenital bilateral aplasia of vas deferens	Associate	20100616
Cystic Fibrosis	Associate	19460784, 20028935, 28289476
Diabetes Mellitus	Associate	22326504
Diabetic Angiopathies	Associate	19460784
Diabetic Nephropathies	Associate	22250646
Ductus Arteriosus Patent	Associate	33837257
Dysplastic Nevus Syndrome	Associate	26703564
Endometrial Neoplasms	Stimulate	36542159
Endometrial Neoplasms	Inhibit	7819049
Epiretinal Membrane	Associate	16030497
Eye Diseases	Associate	15988412
Glaucoma	Associate	15988412
Glioma	Associate	31734650
Glomerulonephritis IGA	Associate	22250646
Heart Defects Congenital	Associate	21498912, 26283027
Heart Failure	Stimulate	28095452
Hemangioma	Stimulate	28812426
Hypercholesterolemia	Associate	38123303
Hypertension	Associate	36739654
Hypertension Pulmonary	Associate	24465776
Hypertrichosis congenital generalized X linked	Associate	21636067
Hypertrophy Left Ventricular	Associate	19593212
Hypoxia	Associate	31734650
Hypoxia Brain	Associate	31734650
Inflammation	Associate	20452970
Intracranial Aneurysm	Associate	22106312, 31250579
Leukemia	Associate	24901342
Leukemia Lymphocytic Chronic B Cell	Associate	24901342
Liver Cirrhosis	Associate	11583963, 28812426
Low Tension Glaucoma	Associate	15988412, 16971893
Lung Diseases	Associate	28289476
Lung Neoplasms	Associate	28153500
Lymphatic Metastasis	Associate	34663825
Meningioma	Associate	7560095
Migraine with Aura	Associate	19558538
Multiple Myeloma	Associate	28597546
Myocardial Ischemia	Associate	29396305
Nasopharyngeal Carcinoma	Associate	23987636
Neoplasm Metastasis	Associate	23987636, 24530737, 25175477, 26703564
Neoplasms	Associate	12368197, 15841074, 25175477, 25194819, 26703564, 27490540, 30382525, 36717550
Neoplasms	Stimulate	28249901
Neoplasms Basal Cell	Associate	30382525
Non Muscle Invasive Bladder Neoplasms	Associate	33465047
Osteolysis	Associate	24373848
Osteosarcoma	Associate	24727660
Ovarian Diseases	Associate	19202075
Ovarian Neoplasms	Associate	11073813, 12023962, 15347673, 19202075, 22232246, 24530737, 25194819, 30367951, 36717550
Pain	Associate	17010672
Peripheral Arterial Disease	Associate	26488411
Pheochromocytoma	Associate	12368197
Prostatic Neoplasms	Stimulate	34165174
Pulmonary Arterial Hypertension	Associate	21498912
Squamous Cell Carcinoma of Head and Neck	Associate	30382525
Stomach Neoplasms	Associate	34663825
Urinary Bladder Neoplasms	Associate	25175477, 32570217, 36595851
Vitreoretinopathy Proliferative	Associate	16030497
Wilms Tumor	Associate	30664180

EDNRA (endothelin receptor type A)