About   Help   FAQ
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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:58600789-58675654 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 29.37 cM, cytoband B3
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    636 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1343498
protein coding gene Chr10:58600780-58675696 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017249
protein coding gene Chr10:57721756-57798347 (-)
A/J MGP_AJ_G0017226
protein coding gene Chr10:56039386-56115360 (-)
AKR/J MGP_AKRJ_G0017185
protein coding gene Chr10:57503157-57578832 (-)
BALB/cJ MGP_BALBcJ_G0017187
protein coding gene Chr10:56125446-56200639 (-)
C3H/HeJ MGP_C3HHeJ_G0017010
protein coding gene Chr10:57419034-57494081 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017645
protein coding gene Chr10:59818120-59898334 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015336
protein coding gene Chr10:53132945-53206265 (-)
CAST/EiJ MGP_CASTEiJ_G0016581
protein coding gene Chr10:57341686-57416080 (-)
CBA/J MGP_CBAJ_G0016982
protein coding gene Chr10:61949954-62029765 (-)
DBA/2J MGP_DBA2J_G0017087
protein coding gene Chr10:55366939-55441522 (-)
FVB/NJ MGP_FVBNJ_G0017081
protein coding gene Chr10:54600117-54674472 (-)
LP/J MGP_LPJ_G0017162
protein coding gene Chr10:58100628-58175892 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017109
protein coding gene Chr10:64501049-64580777 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017682
protein coding gene Chr10:57311900-57388507 (-)
PWK/PhJ MGP_PWKPhJ_G0016364
protein coding gene Chr10:55143711-55220602 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016149
protein coding gene Chr10:56674793-56759421 (-)
WSB/EiJ MGP_WSBEiJ_G0016645
protein coding gene Chr10:57209305-57288090 (-)



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
less
  • Phenotype Summary
    54 phenotypes from 11 alleles in 12 genetic backgrounds
    51 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.
Mutations in this gene produce abnormalities of the hair,teeth and some exocrine glands.
Gene Ontology
(GO)
Classifications
less
  • 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
less
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 ENSMUSG00000003227 Ensembl Gene Model | MGI Sequence Detail 74866 C57BL/6J ±  kb
    transcript ENSMUST00000003312 Ensembl | MGI Sequence Detail 3637 Not Applicable  
    polypeptide ENSMUSP00000003312 Ensembl | MGI Sequence Detail 448 Not Applicable  
    For the selected sequence
    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 29
      Genomic 15
      cDNA 11
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-8853, MGI:94898
    References
    more
    • Summaries
      All 139
      Developmental Gene Expression 56
      Diseases 3
      Gene Ontology 7
      Phenotypes 51
    • 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
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory