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Ednra Gene Detail
Summary
  • Symbol
    Ednra
  • Name
    endothelin receptor type A
  • Synonyms
    AEA001, ETa, ET-AR, Gpcr10, Mhdaaea1
  • Feature Type
    protein coding gene
  • IDs
    MGI:105923
    NCBI Gene: 13617
  • Gene Overview
    MyGene.info: EDNRA
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:77663031-77724464 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      61434 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 36.63 cM, cytoband C2
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    EDNRA, endothelin receptor type A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EDNRA, endothelin receptor type A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ETA, ET-A, ETAR, ETA-R, ETRA, hET-AR, MFDA
  • Links
    NCBI Gene ID: 1909
    neXtProt AC: NX_P25101
    UniProt: P25101

  • Chr Location
    4q31.22-q31.23; chr4:147480917-147544954 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Ednra mouse models; 2 with human EDNRA associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    121 phenotypes from 9 alleles in 10 genetic backgrounds
    30 phenotypes from multigenic genotypes
    9 images
    42 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.
Homozygous inactivation of this gene results in numerous severe craniofacial defects and perinatal lethality. Aberrant middle ear development and cardiac defects, including great vessel malformations and abnormal cardiac outflow tract development, have been observed.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000024406 VEGA Gene Model | MGI Sequence Detail 61434 C57BL/6J ±  kb
    transcript OTTMUST00000059825 VEGA | MGI Sequence Detail 3625 Not Applicable  
    polypeptide OTTMUSP00000029132 VEGA | MGI Sequence Detail 427 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      553 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 17
      Primer pair 1
      Other 6

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16350, MGD-MRK-33601, MGI:5619297, MGI:99570
    References
    more
    • Summaries
      All 96
      Developmental Gene Expression 32
      Diseases 2
      Gene Ontology 12
      Phenotypes 42
    • Earliest
      J:15563 Wilkie TM, et al., Identification, chromosomal location, and genome organization of mammalian G-protein-coupled receptors. Genomics. 1993 Nov;18(2):175-84
    • Latest
      J:246633 Qi H, et al., Glomerular Endothelial Mitochondrial Dysfunction Is Essential and Characteristic of Diabetic Kidney Disease Susceptibility. Diabetes. 2017 Mar;66(3):763-778

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory