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Ednrb Gene Detail
Summary
  • Symbol
    Ednrb
  • Name
    endothelin receptor type B
  • Synonyms
    ETb, ETR-b, Sox10m1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102720
    NCBI Gene: 13618
  • Gene Overview
    MyGene.info: EDNRB
Location & Maps
more
  • Sequence Map
    Chr14:103814625-103844173 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29549 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 53.05 cM
  • Mapping Data
    30 experiments
Homology
more
  • Human Ortholog
    EDNRB, endothelin receptor type B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EDNRB, endothelin receptor type B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ABCDS, ETB, ET-B, ETB1, ETBR, ET-BR, ETRB, HSCR, HSCR2, WS4A
  • Links
    NCBI Gene ID: 1910
    neXtProt AC: NX_P24530

  • Chr Location
    13q22; chr13:77895481-77975529 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Ednrb mouse models; 3 with human EDNRB associations

Human Disease Mouse Models
       Hirschsprung Disease, Susceptibility to, 2; HSCR2   OMIM: 600155 View 3 models
Waardenburg Syndrome, Type 4A; WS4A   OMIM: 277580 View 2 models
       Abcd Syndrome; ABCDS   OMIM: 600501
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    93 phenotypes from 45 alleles in 20 genetic backgrounds
    34 phenotypes from multigenic genotypes
    11 images
    100 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    50
  • Chemically and radiation induced
    2
  • Chemically induced (ENU)
    3
  • Chemically induced (other)
    12
  • Radiation induced
    18
  • Spontaneous
    4
  • Targeted
    11
  • Genomic Mutations
    3 involving Ednrb
  • Incidental Mutations
Homozygotes for null mutations have pigmentation limited to small patches on the head and rump, exhibit abnormal neural epithelium of the inner ear, and die from megacolon resulting from impaired neuronal migration and aganglia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000022122 Ensembl Gene Model | MGI Sequence Detail 29549 C57BL/6J ±  kb
transcript ENSMUST00000022718 Ensembl | MGI Sequence Detail 3878 Not Applicable  
polypeptide ENSMUSP00000022718 Ensembl | MGI Sequence Detail 442 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    95 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000001222 endothelin B receptor
  • InterPro Domains
    IPR001112 Endothelin receptor B
    IPR000499 Endothelin receptor family
    IPR017452 GPCR, rhodopsin-like, 7TM
    IPR000276 G protein-coupled receptor, rhodopsin-like
Molecular
Reagents
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  • All nucleic 124
    Genomic 1
    cDNA 121
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-14268, MGD-MRK-19624, MGI:2145744
References
more
  • Summaries
    All 194
    Developmental Gene Expression 36
    Diseases 7
    Gene Ontology 13
    Phenotypes 100
  • Earliest
    J:23183 Dunn LC, Types of white spotting in mice. Am Naturalist. 1920 Nov-Dec;54:465-95
  • Latest
    J:231435 Takeo M, et al., EdnrB Governs Regenerative Response of Melanocyte Stem Cells by Crosstalk with Wnt Signaling. Cell Rep. 2016 May 10;15(6):1291-302

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory