• Gene id: 1910

Gene Summary

• Gene Symbol: EDNRB   Gene   UCSC   Ensembl
• Aliases: ABCDS, ET-B, ET-BR, ETB, ETB1, ETBR, ETRB, HSCR, HSCR2, WS4A
• Gene name: endothelin receptor type B
• Alternate names: endothelin receptor type B, Hirschsprung disease 2, endothelin receptor non-selective type, endothelin receptor subtype B1,
• Gene location: 13q22.3 (77975526: 77895480)     Exons: 4     NC_000013.11
• Gene summary(Entrez): 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
• OMIM: 131244

Protein Summary

• Protein general information: P24530  
  • Name: Endothelin receptor type B (ET B) (ET BR) (Endothelin receptor non selective type)
  • Length: 442  
  • Mass: 49644
  • Tissue specificity: Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. {ECO
• Sequence:

  MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGD
  RTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLH
  IVIDIPINVYKLLAEDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLI
  WVVSVVLAVPEAIGFDIITMDYKGSYLRICLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEM
  LRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCELLSFLLVLDYIGINMA
  SLNSCINPIALYLVSKRFKNCFKSCLCCWCQSFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS

• Structural information:
  • Interpro: IPR000499  IPR001112  IPR000276  IPR017452  
  • Prosite: PS00237 PS50262
  • PDB: 5GLH 5GLI 5X93 5XPR 6IGK 6IGL
  • PDBsum: 5GLH 5GLI 5X93 5XPR 6IGK 6IGL
  • STRING: ENSP00000366416
• Other Databases: GeneCards:  EDNRB  Malacards:  EDNRB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0086100	endothelin receptor signaling pathway	IMP	biological process
GO:0004962	endothelin receptor activity	IMP	molecular function
GO:0019722	calcium-mediated signaling	IMP	biological process
GO:0004962	endothelin receptor activity	IEA	molecular function
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042310	vasoconstriction	IEA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0007194	negative regulation of adenylate cyclase activity	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	biological process
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:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1990839	response to endothelin	IEA	biological process
GO:0060406	positive regulation of penile erection	IEA	biological process
GO:0051930	regulation of sensory perception of pain	IEA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0048265	response to pain	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0042311	vasodilation	IEA	biological process
GO:0042310	vasoconstriction	IEA	biological process
GO:0035815	positive regulation of renal sodium excretion	IEA	biological process
GO:0035810	positive regulation of urine volume	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0031702	type 1 angiotensin receptor binding	IEA	molecular function
GO:0031620	regulation of fever generation	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0035645	enteric smooth muscle cell differentiation	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0014043	negative regulation of neuron maturation	IEA	biological process
GO:0007497	posterior midgut development	IEA	biological process
GO:0007422	peripheral nervous system development	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0006885	regulation of pH	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042045	epithelial fluid transport	IEA	biological process
GO:0019934	cGMP-mediated signaling	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004962	endothelin receptor activity	IEA	molecular function
GO:0048066	developmental pigmentation	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0004962	endothelin receptor activity	IEA	molecular function
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0004962	endothelin receptor activity	IDA	molecular function
GO:0004962	endothelin receptor activity	IMP	molecular function
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0086100	endothelin receptor signaling pathway	IDA	biological process
GO:0048246	macrophage chemotaxis	IMP	biological process
GO:0086100	endothelin receptor signaling pathway	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0014043	negative regulation of neuron maturation	ISS	biological process
GO:0014826	vein smooth muscle contraction	IMP	biological process
GO:0032269	negative regulation of cellular protein metabolic process	IMP	biological process
GO:0035645	enteric smooth muscle cell differentiation	ISS	biological process
GO:0042310	vasoconstriction	IMP	biological process
GO:0048484	enteric nervous system development	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04080	Neuroactive ligand-receptor interaction
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04926	Relaxin signaling pathway
hsa04916	Melanogenesis

Diseases

Associated diseases	References
Waardenburg syndrome	KEGG:H00759
Hirschsprung disease	KEGG:H00910
Nasopharyngeal cancer	KEGG:H00054
ABCD syndrome	KEGG:H00823
Waardenburg syndrome	KEGG:H00759
Hirschsprung disease	KEGG:H00910
Nasopharyngeal cancer	KEGG:H00054
ABCD syndrome	KEGG:H00823
Hirschsprung's disease	PMID:8852658
Asthma	PMID:17470272
Pulmonary hypertension	PMID:20562228
Waardenburg's syndrome	PMID:8634719
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq