Endothelin Receptor, Type B

Alternative Names

  • EDNRB
  • Endothelin Receptor, Nonselective Type
  • Endothelin Receptor Subtype B1
  • ETB
  • ETRB
  • ETBR
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OMIM Number

131244

NCBI Gene ID

1910

Uniprot ID

P24530

Length

80049 bases

No. of Exons

9

No. of isoforms

3

Protein Name

Endothelin receptor type B

Molecular Mass

49644Da

Amino Acid Count

442

Genomic Location

chr13:77895481-77975529

Gene Map Locus
13q22.3

Description

The EDNRB gene encodes a non-specific, G protein-coupled receptor for endothelin 1, 2, and 3. Once activated through ligand binding, this G protein-coupled receptor known as Endothelin Receptor Type B regulates several biological processes including differentiation of melanocytes, development of enteric nervous system, migration of neural crest cells, vasoconstriction/vasodilation, and sensory perception of pain.

Mutations in EDNRB gene are associated with Waardenburg Syndrome Type 4A and Hirschsprung Disease 2.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000115.5:c.548C>GMorocco; Tunisiachr13:77903543Uncertain SignificanceLikely PathogenicWaardenburg Syndrome, Type 4ANG_011630.3:g.76181C>G; NM_000115.5:c.548C>G; NP_001116131.1:p.Ala183Gly10489438816634
NM_000115.5:c.914G>AMoroccoNC_000013.11:g.77901095C>TBenign, Likely Benign, Uncertain SignificanceLikely BenignShprintzen-Goldberg Craniosynostosis SyndromeNG_011630.3:g.78629G>A; NM_000115.5:c.914G>A; NP_000106.1:p.Ser305Asn535216638
NM_001122659.3:c.1025G>TLebanonNC_000013.11:g.77900581C>AWaardenburg Syndrome, Type 4ANM_001122659.3:c.1025G>T; NP_001116131.1:p.Ser342Ile
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