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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
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr14:103814625-103844402 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29778 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: HGNC, HomoloGene
  • Synonyms
    ABCDS, ETB, ET-B, ETB1, ETBR, ET-BR, ETRB, HSCR, HSCR2, WS4A
  • Links
    NCBI Gene ID: 1910
    neXtProt AC: NX_P24530
    UniProt: P24530

  • Chr Location
    13q22.3; chr13:77895481-77975529 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 5 models
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    100 phenotypes from 46 alleles in 21 genetic backgrounds
    48 phenotypes from multigenic genotypes
    16 images
    106 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022122 Ensembl Gene Model | MGI Sequence Detail 29778 C57BL/6J ±  kb
    transcript ENSMUST00000022718 Ensembl | MGI Sequence Detail 4107 Not Applicable  
    polypeptide ENSMUSP00000022718 Ensembl | MGI Sequence Detail 442 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      95 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 127
      Genomic 1
      cDNA 123
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14268, MGD-MRK-19624, MGI:2145744
    References
    more
    • Summaries
      All 210
      Developmental Gene Expression 40
      Diseases 7
      Gene Ontology 13
      Phenotypes 106
    • Earliest
      J:23183 Dunn LC, Types of white spotting in mice. Am Naturalist. 1920 Nov-Dec;54:465-95
    • Latest
      J:264116 Nagy N, et al., Collagen 18 and agrin are secreted by neural crest cells to remodel their microenvironment and regulate their migration during enteric nervous system development. Development. 2018 May 8;145(9)

    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
    09/18/2018
    MGI 6.12
    The Jackson Laboratory