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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:58436611-58511476 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 29.37 cM, cytoband B3
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2341 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1343498
 protein coding gene Chr10:58436602-58511518 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EDAR, ectodysplasin A receptor
  • 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
Human Diseases
more
  • Diseases
    1 with Edar mouse models; 2 with human EDAR associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
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
    53 phenotypes from 11 alleles in 12 genetic backgrounds
    66 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
less
  • All GO Annotations
    22
  • GO References
    9
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1115
  • Tissues
    254
  • cDNA Data
    12
  • Literature Summary
    70
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
      (term hierarchy)
    • InterPro Domains
      IPR011029 Death-like domain superfamily
      IPR034052 Tumor necrosis factor receptor EDAR, N-terminal
      IPR047526 Tumor necrosis factor receptor superfamily member 19/27/EDAR
    • GlyGen
      Q9R187 1 site
    Molecular
    Reagents
    less
    • All nucleic 36
      Genomic 15
      cDNA 12
      Primer pair 4
      Other 5

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-8853, MGI:94898
    References
    more
    • Summaries
      All 166
      Developmental Gene Expression 70
      Diseases 3
      Gene Ontology 9
      Phenotypes 66
    • 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:352165 Lin Y, et al., Denticleless E3 ubiquitin protein ligase (DTL) maintains the proliferation and differentiation of epidermis and hair follicles during skin development. Dev Dyn. 2024 Jul;253(7):635-647
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory