EDNRB (endothelin receptor type B)

Gene

• Entrez ID: 1910
• Gene name: Endothelin receptor type B
• Gene symbol: EDNRB
• Synonyms (NCBI Gene): ABCDS, ET-B, ET-BR, ETB, ETB1, ETBR, ETRB, HSCR, HSCR2, WS4A
• Chromosome: 13
• Chromosome location: 13q22.3
• Summary: The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801710	C>T	Risk-factor, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs267606780	T>A	Risk-factor	Upstream transcript variant, intron variant, genic upstream transcript variant, stop gained, coding sequence variant
rs768126403	G>A,T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1064797178	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1555292048	TTTAGGCACCTCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT952775	hsa-miR-124	CLIP-seq
MIRT952776	hsa-miR-3714	CLIP-seq
MIRT952777	hsa-miR-3910	CLIP-seq
MIRT952778	hsa-miR-4282	CLIP-seq
MIRT952779	hsa-miR-4503	CLIP-seq
MIRT952780	hsa-miR-4733-5p	CLIP-seq
MIRT952781	hsa-miR-506	CLIP-seq
MIRT952782	hsa-miR-513a-3p	CLIP-seq
MIRT952783	hsa-miR-548ae	CLIP-seq
MIRT952784	hsa-miR-548aj	CLIP-seq
MIRT952785	hsa-miR-548am	CLIP-seq
MIRT952786	hsa-miR-548x	CLIP-seq
MIRT952787	hsa-miR-590-3p	CLIP-seq
MIRT952788	hsa-miR-1271	CLIP-seq
MIRT952789	hsa-miR-136	CLIP-seq
MIRT952790	hsa-miR-182	CLIP-seq
MIRT952791	hsa-miR-19a	CLIP-seq
MIRT952792	hsa-miR-19b	CLIP-seq
MIRT952793	hsa-miR-2052	CLIP-seq
MIRT952794	hsa-miR-3140-3p	CLIP-seq
MIRT952795	hsa-miR-3164	CLIP-seq
MIRT952796	hsa-miR-340	CLIP-seq
MIRT952797	hsa-miR-376c	CLIP-seq
MIRT952798	hsa-miR-377	CLIP-seq
MIRT952799	hsa-miR-4470	CLIP-seq
MIRT952800	hsa-miR-4642	CLIP-seq
MIRT952801	hsa-miR-4652-3p	CLIP-seq
MIRT952802	hsa-miR-4720-5p	CLIP-seq
MIRT952803	hsa-miR-4795-3p	CLIP-seq
MIRT952804	hsa-miR-4799-3p	CLIP-seq
MIRT952805	hsa-miR-579	CLIP-seq
MIRT952806	hsa-miR-582-5p	CLIP-seq
MIRT952807	hsa-miR-648	CLIP-seq
MIRT952808	hsa-miR-96	CLIP-seq
MIRT1982136	hsa-miR-146a	CLIP-seq
MIRT1982137	hsa-miR-146b-5p	CLIP-seq
MIRT1982138	hsa-miR-186	CLIP-seq
MIRT1982139	hsa-miR-25	CLIP-seq
MIRT1982140	hsa-miR-3133	CLIP-seq
MIRT1982141	hsa-miR-32	CLIP-seq
MIRT1982142	hsa-miR-363	CLIP-seq
MIRT1982143	hsa-miR-367	CLIP-seq
MIRT1982144	hsa-miR-3921	CLIP-seq
MIRT1982145	hsa-miR-4251	CLIP-seq
MIRT1982146	hsa-miR-4325	CLIP-seq
MIRT1982147	hsa-miR-4329	CLIP-seq
MIRT1982148	hsa-miR-4653-5p	CLIP-seq
MIRT1982149	hsa-miR-4714-5p	CLIP-seq
MIRT1982150	hsa-miR-589	CLIP-seq
MIRT1982151	hsa-miR-92a	CLIP-seq
MIRT1982152	hsa-miR-92b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Activation	19783678
SOX10	Unknown	16623715
SP1	Activation	16921166
SP1	Unknown	16623715

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19767294
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002001	Process	Renin secretion into blood stream	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004962	Function	Endothelin receptor activity	IBA
GO:0004962	Function	Endothelin receptor activity	IDA	1713452
GO:0004962	Function	Endothelin receptor activity	IEA
GO:0004962	Function	Endothelin receptor activity	IMP	19767294, 28236341
GO:0005515	Function	Protein binding	IPI	23597562
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	28236341
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8810293
GO:0006885	Process	Regulation of pH	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	8810293
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007194	Process	Negative regulation of adenylate cyclase activity	TAS	9556633
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	9556633
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007399	Process	Nervous system development	TAS	8001158
GO:0007422	Process	Peripheral nervous system development	IEA
GO:0007497	Process	Posterior midgut development	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014043	Process	Negative regulation of neuron maturation	IEA
GO:0014043	Process	Negative regulation of neuron maturation	ISS
GO:0014826	Process	Vein smooth muscle contraction	IMP	8982507
GO:0014829	Process	Vascular associated smooth muscle contraction	IEA
GO:0016020	Component	Membrane	IEA
GO:0017046	Function	Peptide hormone binding	IPI	1713452
GO:0019722	Process	Calcium-mediated signaling	IMP	28236341
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0030202	Process	Heparin proteoglycan metabolic process	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0031620	Process	Regulation of fever generation	IEA
GO:0031702	Function	Type 1 angiotensin receptor binding	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0032341	Process	Aldosterone metabolic process	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0035645	Process	Enteric smooth muscle cell differentiation	IEA
GO:0035645	Process	Enteric smooth muscle cell differentiation	ISS
GO:0035810	Process	Positive regulation of urine volume	IEA
GO:0035812	Process	Renal sodium excretion	IEA
GO:0042045	Process	Epithelial fluid transport	IEA
GO:0042310	Process	Vasoconstriction	IBA
GO:0042310	Process	Vasoconstriction	IEA
GO:0042310	Process	Vasoconstriction	IMP	8982507
GO:0042311	Process	Vasodilation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0048066	Process	Developmental pigmentation	IBA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0048246	Process	Macrophage chemotaxis	IMP	12207323
GO:0048265	Process	Response to pain	IEA
GO:0048484	Process	Enteric nervous system development	IEA
GO:0048484	Process	Enteric nervous system development	ISS
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0051248	Process	Negative regulation of protein metabolic process	IMP	19767294
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060406	Process	Positive regulation of penile erection	IEA
GO:0061028	Process	Establishment of endothelial barrier	IEA
GO:0070294	Process	Renal sodium ion absorption	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0072112	Process	Podocyte differentiation	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IBA
GO:0086100	Process	Endothelin receptor signaling pathway	IDA	1713452
GO:0086100	Process	Endothelin receptor signaling pathway	IEA
GO:0086100	Process	Endothelin receptor signaling pathway	IMP	19767294, 28236341
GO:0097018	Process	Renal albumin absorption	IEA
GO:0097402	Process	Neuroblast migration	IEA
GO:0160093	Process	Chordate pharynx development	IEA
GO:1904383	Process	Response to sodium phosphate	IEA
GO:1990839	Process	Response to endothelin	IEA

Other IDs

• MIM: 131244
• HGNC: 3180
• e!Ensembl: ENSG00000136160

Protein

• UniProt ID: P24530
• Protein name: Endothelin receptor type B (ET-B) (ET-BR) (Endothelin receptor non-selective type)
• Protein function: Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.
• PDB: 5GLH, 5GLI, 5X93, 5XPR, 6IGK, 6IGL, 6LRY, 8HBD, 8HCX, 8IY5, 8IY6, 8XGR, 8XVE, 8XVH, 8XWP, 8XWQ, 8ZRT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	118 → 387	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. {ECO:0000269|PubMed:9284755}.
• Sequence:

  MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNA
  SLARSLAPAEVPKGDRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNS
  TLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLAEDWPFGAEMCKLVPFI
  QKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGF
  DIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEM
  LRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCEL
  LSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCCWCQSFEEKQSLEEKQSC
  LKFKANDHGYDNFRSSNKYSSS

• Sequence length: 442

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
Neuroactive ligand-receptor interaction
Melanogenesis
Relaxin signaling pathway
Pathways in cancer

Reactome:

Peptide ligand-binding receptors
G alpha (q) signalling events

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ABCD syndrome	Pathogenic	rs104894391	RCV000018120
EDNRB-related disorder	Likely pathogenic; Pathogenic	rs2501526238, rs2137610838, rs1879091616	RCV003408492 RCV003984378 RCV003931777
Hearing impairment	Likely pathogenic	rs1064797177	RCV001375059
Hirschsprung disease, susceptibility to, 2	Likely pathogenic; Pathogenic	rs1879111145	RCV004785538
Melanoma	Likely pathogenic; Pathogenic	rs1879111145	RCV005930028
Rare genetic deafness	Pathogenic	rs876657688	RCV000221133
Waardenburg syndrome type 4A	Likely pathogenic; Pathogenic	rs2137610942, rs2137610842, rs2137610838, rs104894388, rs104894390, rs104894391, rs2501608750, rs762023761, rs2501530183, rs768126403, rs1555290659, rs1458799604	RCV001375041 RCV001808120 RCV001809337 RCV000018114 RCV000018119 RCV000659496 RCV003989082 RCV004526475 RCV004556963 RCV000721946 RCV000659495 RCV000659494

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Aganglionic megacolon	Uncertain significance	rs986500037, rs1878741475, rs1878958050	RCV000984786 RCV001090043 RCV001090044
Aganglionosis, total intestinal	Conflicting classifications of pathogenicity	rs1566304640, rs781214034	RCV000758015 RCV000758016
Hearing loss, autosomal recessive	Conflicting classifications of pathogenicity	rs781214034	RCV001291323
Hirschsprung Disease, Recessive	Uncertain significance	rs144565124, rs760796267, rs886050324	RCV000310434 RCV000276986 RCV000319297
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	Conflicting classifications of pathogenicity	rs5352	RCV001258252
Waardenburg syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs199927859, rs144565124, rs760796267, rs886050324	RCV001375168 RCV000402655 RCV000369503 RCV000280415
Waardenburg syndrome type 2A	Conflicting classifications of pathogenicity	rs5352	RCV000626404

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	12499435
Adenocarcinoma of Lung	Associate	23111975, 32394530, 34039311
Airway Obstruction	Associate	17470272
Alzheimer Disease	Associate	40065353
Atherosclerosis	Associate	40076930
Brain Ischemia	Associate	10700441, 22997346, 23343134
Breast Neoplasms	Associate	12207323, 15226779
Calcinosis Cutis	Inhibit	12439722
Carcinogenesis	Associate	32236623, 32394530
Carcinoma Bronchogenic	Associate	17470272
Carcinoma in Situ	Associate	24373848
Carcinoma Intraductal Noninfiltrating	Associate	15841074
Carcinoma Renal Cell	Associate	25047176
Carcinoma Squamous Cell	Associate	34888137
Cardiovascular Diseases	Associate	30423812
Choriocarcinoma	Associate	18362896
Color Vision Defects	Associate	23548203
Colorectal Neoplasms	Associate	11034585, 23637120, 24326135, 28140749
Deafness	Associate	21505449, 33095980, 8630503
Death	Associate	12439722
Diabetes Gestational	Associate	22580289
Diabetes Mellitus Type 2	Associate	28817788
Diabetic Retinopathy	Associate	28817788
Down Syndrome	Associate	10458491, 29789608
Drug Related Side Effects and Adverse Reactions	Associate	32028672
Ductus Arteriosus Patent	Associate	33837257
Emphysema	Associate	28459279
Endometrial Neoplasms	Associate	32170852
Endometrial Neoplasms	Inhibit	36542159, 7819049
Epiretinal Membrane	Associate	16030497
Esophageal Squamous Cell Carcinoma	Associate	22075705, 24357795
Familial Primary Pulmonary Hypertension	Associate	21406517
Feeding and Eating Disorders	Associate	21505449
Fetal Growth Retardation	Associate	22580289
Fibrosis	Associate	11583963, 28812426
Giant Cell Arteritis	Associate	28606962
Glaucoma	Associate	15988412
Glaucoma Open Angle	Associate	24603425, 35790984
Glioblastoma	Associate	11092528
Glioblastoma	Stimulate	29409474
Glioma	Associate	19040731, 28841806, 29409474, 31734650
Glomerulonephritis	Associate	16928614
Head and Neck Neoplasms	Associate	24671639
Hearing Loss	Associate	34753855
Hearing Loss Sensorineural	Associate	35580552
Heart Septal Defects Ventricular	Associate	30423812
Hirschsprung Disease	Associate	10204849, 10458491, 10874640, 14669347, 16618617, 16623715, 20009762, 20495744, 26395553, 29484400, 33178831, 8630503
Hirschsprung disease 1	Associate	23840513
Hyperaldosteronism	Associate	8083364
Hyperpigmentation	Associate	11286625, 15140230
Hypertension	Associate	18758497
Hypertension Pulmonary	Associate	18411415
Hypoxia	Associate	31734650, 32028672
Hypoxia Brain	Associate	31734650
Intellectual Disability	Associate	10874640
Iris Diseases	Associate	23840513
Lentigo	Associate	11286625, 15140230
Liver Cirrhosis	Associate	11583963
Lung Neoplasms	Associate	22075705
Lymphatic Metastasis	Associate	24357795
Lymphoma Follicular	Associate	29789608
Melanoma	Inhibit	10383740
Melanoma	Associate	12189238, 12230494, 20550706, 31464372, 8645250, 9575219
Meningioma	Associate	7560095
Mouth Neoplasms	Associate	20798208, 23637120
Multiple Myeloma	Associate	28597546
Neoplasm Metastasis	Associate	12439722, 24357795, 24373848
Neoplasms	Inhibit	10383740, 20162572, 20798208, 24326135
Neoplasms	Associate	12368197, 15226779, 23637120, 24357795, 24549269, 27490540, 28140749, 28153500, 28841806, 29409474, 33138797, 38538728
Neoplasms	Stimulate	22075705
Nephrotic Syndrome	Stimulate	16928614
Neural crest tumor	Associate	12439722
Neuroblastoma	Associate	37948459
Obesity	Inhibit	24819376
Obesity	Associate	25799405
Osteoarthritis	Associate	37008941
Overweight	Inhibit	24819376
Pain	Associate	17010672
Pheochromocytoma	Stimulate	12368197
Pigmentation Disorders	Stimulate	15579452
Pigmentation Disorders	Associate	25268585, 26308584
Pre Eclampsia	Associate	22580289
Prostatic Hyperplasia	Associate	12499435
Prostatic Neoplasms	Associate	12499435, 18076941, 21694441, 33197890
Prostatitis	Associate	16026642
Prurigo	Associate	30809683
Pulmonary Arterial Hypertension	Associate	22688668
Pulmonary Disease Chronic Obstructive	Associate	21828025
Retinal Dysplasia	Associate	20798208, 23637120
Sarcoma Kaposi	Associate	23818101
Scleroderma Systemic	Associate	9284832
Small Cell Lung Carcinoma	Inhibit	12439722
Spinal Cord Injuries	Associate	39367463
Squamous Cell Carcinoma of Head and Neck	Associate	20162572, 20473870, 23637120, 24671639, 24995714, 33594807
Status Asthmaticus	Associate	17470272
Stomach Neoplasms	Associate	37226719
Stroke	Associate	19661472
Subarachnoid Hemorrhage	Associate	22997346
Tongue Neoplasms	Associate	22075705
Triple Negative Breast Neoplasms	Associate	38305604
Urinary Bladder Neoplasms	Associate	17404085
Urogenital Abnormalities	Associate	28393221
Uterine Cervical Dysplasia	Stimulate	24508839
Uterine Cervical Neoplasms	Associate	16623715, 32368784
Uveal melanoma	Associate	12439722
Varicocele	Associate	21601190
Varicose Veins	Associate	21601190
Vasospasm Intracranial	Associate	22997346
Waardenburg Syndrome	Associate	10536986, 16623715, 22876130, 25932447, 29115496, 29630160, 30936914, 32908492, 35790984, 36329483, 36331148
Waardenburg syndrome type 4	Associate	10762540, 16623715, 28128317, 35790984