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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
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
Homology
more
  • Human Ortholog
    EDAR, ectodysplasin A receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EDAR, ectodysplasin A receptor
    Orthology source: HomoloGene
  • Synonyms
    DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA1R, EDA3, EDA-A1R, HRM1
  • Links
    NCBI Gene ID: 10913
    neXtProt AC: NX_Q9UNE0

  • Chr Location
    2q13; chr2:108894471-108989372 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7699
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: EDAR
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Edar mouse models; 2 with human EDAR associations

Human Disease Mouse Models
       Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive; ECTD10B   OMIM: 224900 View 2 models
       Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant;   OMIM: 129490
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
    50 phenotypes from 10 alleles in 11 genetic backgrounds
    46 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    4
  • Targeted
    4
  • Transgenic
    2
  • Genomic Mutations
    2 involving Edar
  • Incidental Mutations
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
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 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
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  • 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
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 121
    Developmental Gene Expression 52
    Diseases 2
    Gene Ontology 6
    Phenotypes 46
  • Earliest
    J:18293 Phillips RJS, New mutant. Mouse News Lett. 1960;23:29-30
  • Latest
    J:225734 Adhikari K, et al., A genome-wide association study identifies multiple loci for variation in human ear morphology. Nat Commun. 2015;6:7500

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
05/17/2016
MGI 6.03
The Jackson Laboratory