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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1909
Gene name Gene Name - the full gene name approved by the HGNC.	Endothelin receptor type A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EDNRA
Synonyms (NCBI Gene) Gene synonyms aliases	ET-A, ETA, ETA-R, ETAR, ETRA, MFDA, hET-AR
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MFDA
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q31.22-q31.23
Summary Summary of gene provided in NCBI Entrez 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 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	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT005753	hsa-miR-27b-3p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT005756	hsa-miR-224-5p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT007344	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR, Western 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

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GO ID	Ontology	Definition	Evidence	Reference
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:0004435	Function	Phosphatidylinositol phospholipase C activity	TAS	8702836
GO:0004962	Function	Endothelin receptor activity	NAS	8611157, 9284755
GO:0005515	Function	Protein binding	IPI	19202075, 23597562
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	1326535
GO:0006939	Process	Smooth muscle contraction	NAS	9284755
GO:0007165	Process	Signal transduction	TAS	1326535
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	8611157
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007190	Process	Activation of adenylate cyclase activity	TAS	8702836
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007202	Process	Activation of phospholipase C activity	TAS	8702836
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	TAS	1849646
GO:0007507	Process	Heart development	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:0010827	Process	Regulation of glucose transmembrane transport	IEA
GO:0014032	Process	Neural crest cell development	IEA
GO:0014824	Process	Artery smooth muscle contraction	IMP	8982507
GO:0042310	Process	Vasoconstriction	IMP	8982507
GO:0048484	Process	Enteric nervous system development	IEA
GO:0060322	Process	Head development	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IEA

MIM	HGNC	e!Ensembl
131243	3179	ENSG00000151617

Protein

UniProt ID

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 (8)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321 View all (13 more)	9811577
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	16387788
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypertension	Hypertensive disease	rs13306026	12600921
Mandibulofacial dysostosis with alopecia	MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, Mandibulofacial dysostosis with alopecia	rs786205230, rs876657388	25772936, 20583178
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828 View all (31 more)	25194819

Show/Hide Unknown Diseases (14)

Disease term	Disease name	Evidence	References	Source
Unknown
Congestive heart failure	Congestive heart failure		28095452	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		28095452	ClinVar
Migraine with aura	Migraine with Aura			ClinVar
Myocardial infarction	Myocardial Failure		28095452	ClinVar
Cystic Fibrosis	cystic fibrosis			GenCC
Intracranial Aneurysm	Intracranial Aneurysm			GWAS
Coronary artery disease	Coronary artery disease			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Pancreatic adenocarcinoma	Pancreatic adenocarcinoma	PDAC patients with high expression of PSMA6 having a significantly shorter overall survival rate.		GWAS, CBGDA
Myocardial Infarction	Myocardial Infarction			GWAS
Cerebral Aneurysm	Cerebral Aneurysm			GWAS
Acne	Acne			GWAS
Coronary Heart Disease	Coronary Heart Disease			GWAS
Heart Failure	Heart Failure			GWAS

Show/Hide Text Mining Associations (75)

Disease Name	Relationship Type	References
Associations from Text Mining
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)