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Protein Coding Gene : Ednrb endothelin receptor type B

Primary Identifier  MGI:102720 Organism  mouse, laboratory
Chromosome  14 NCBI Gene Number  13618
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables endothelin receptor activity. Involved in several processes, including digestive tract development; metal ion transport; and protein transport. Acts upstream of or within several processes, including melanocyte differentiation; neuroblast migration; and posterior midgut development. Predicted to be located in nuclear membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; heart; and peripheral nervous system. Used to study Hirschsprung's disease and Waardenburg syndrome type 4A. Human ortholog(s) of this gene implicated in ABCD syndrome; Hirschsprung's disease; Waardenburg syndrome (multiple); asthma; and pulmonary hypertension. Orthologous to human EDNRB (endothelin receptor type B).
PHENOTYPE: Mice homozygous for null mutations have pigmentation limited to small patches on the head and rump and die from megacolon resulting from impaired neural crest migration and aganglionosis. Heterozygotes for a null allele show improved cardiac tolerance to hypoxia. [provided by MGI curators]
  • synonyms:
  • MGI:2145744,
  • MGD-MRK-19624,
  • endothelin receptor type B,
  • s,
  • ETb,
  • AU022549,
  • piebald,
  • Ednrb,
  • ETR-b,
  • MGD-MRK-14268,
  • expressed sequence AU022549,
  • Sox10m1

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

1 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

7 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

1 Driver For