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Gene

EDNRB

endothelin receptor type B

Summary

Cytogenetic location
13q22.3
Coordinates
Chromosome 13: 77,895,487–77,918,831 (GRCh38)
Exons
7 exons across 23.3 kb
Protein
442 amino acids
Also known as
ETB
Previous symbols
HSCR2, HSCR
MANE Select transcript
ENST00000646607.2NM_001122659.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Waardenburg Syndrome

    • Waardenburg-Shah Syndrome

      Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.

      • ClinGen rates the link moderate
      • 3 GenCC submitters rate it definitive or strong

    • A group of conditions (types 1 to 4) causing hearing loss and pigment changes of the hair, skin and eyes, caused by genes such as PAX3, MITF, SOX10, EDNRB and EDN3.

      • ClinGen rates the link moderate
      • 3 GenCC submitters rate it definitive or strong

How EDNRB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 13, with a bracket where EDNRB sits. EDNRB and 2 genes near it on chromosome 13, from 77,407,159 to 78,407,158.Chromosome 1313q22.3p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3477.6 Mb77.8 Mb78 Mb78.2 Mb78.4 MbSCEL: 77,535,605–77,646,770, forward strandSCELSLAIN1: 77,697,687–77,764,614, forward strandSLAIN1EDNRB: 77,895,487–77,918,831, reverse strandEDNRBDiagram of EDNRB: 7 exons on the reverse strand of chromosome 13Exon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 7: 77,895,487–77,898,334, 2,848 basesExon 6: 77,899,859–77,899,967, 109 basesExon 5: 77,900,521–77,900,654, 134 basesExon 4: 77,901,058–77,901,207, 150 basesExon 3: 77,903,156–77,903,360, 205 basesExon 2: 77,903,495–77,903,607, 113 basesExon 1: 77,918,091–77,918,831, 741 bases764215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.3 kb of the gene's 23.3 kb; 1,329 of those bases code for the protein.

How a genome test reads EDNRB

18

positions in EDNRB where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 23.3 kb of EDNRB, introns included, not only the 4.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EDNRB gene: endothelin receptor type B. Retrieved 17 October 2026, from https://dantelabs.com/genes/ednrb

Vancouver

Dante Labs. EDNRB gene: endothelin receptor type B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ednrb

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