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Edar Gene Detail
Summary
  • Symbol
    Edar
  • Name
    ectodysplasin-A receptor
  • Feature Type
    protein coding gene
  • IDs
    MGI:1343498
    NCBI Gene: 13608
  • Gene Overview
    MyGene.info: EDAR
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:58600789-58675654 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      74866 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 29.37 cM, cytoband B3
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    EDAR, ectodysplasin A receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EDAR, ectodysplasin A receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA1R, EDA3, EDA-A1R, HRM1
  • Links
    NCBI Gene ID: 10913
    neXtProt AC: NX_Q9UNE0
    UniProt: Q9UNE0

  • Chr Location
    2q13; chr2:108894471-108989372 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 7699
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EDAR
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Edar mouse models; 1 with human EDAR associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 10 alleles in 11 genetic backgrounds
    49 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.
Mutations in this gene produce abnormalities of the hair,teeth and some exocrine glands.
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 OTTMUSG00000025045 VEGA Gene Model | MGI Sequence Detail 74866 C57BL/6J ±  kb
    transcript OTTMUST00000061630 VEGA | MGI Sequence Detail 3637 Not Applicable  
    polypeptide OTTMUSP00000030271 VEGA | MGI Sequence Detail 448 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      636 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000006888 tumor necrosis factor receptor superfamily member EDAR
    • InterPro Domains
      IPR011029 Death-like domain superfamily
      IPR034052 Tumor necrosis factor receptor EDAR, N-terminal
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 15
      cDNA 10
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-8853, MGI:94898
    References
    more
    • Summaries
      All 136
      Developmental Gene Expression 56
      Diseases 3
      Gene Ontology 6
      Phenotypes 49
    • Earliest
      J:5138 Sofaer JA, Aspects of the tabby-crinkled-downless syndrome. I. The development of tabby teeth. J Embryol Exp Morphol. 1969 Sep;22(2):181-205
    • Latest
      J:252728 Elo T, et al., Ectodysplasin target gene Fgf20 regulates mammary bud growth and ductal invasion and branching during puberty. Sci Rep. 2017 Jul 11;7(1):5049

    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
    06/05/2018
    MGI 6.12
    The Jackson Laboratory