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Eda Gene Detail
Summary
  • Symbol
    Eda
  • Name
    ectodysplasin-A
  • Synonyms
    Ed1, EDA1, Eda-A1, Eda-A2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1195272
    NCBI Gene: 13607
  • Gene Overview
    MyGene.info: EDA
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:99975606-100400760 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 43.59 cM
  • Mapping Data
    94 experiments
Strain
Comparison
more
  • SNPs within 2kb
    919 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1195272
protein coding gene ChrX:99975606-100400762 (.)
129S1/SvImJ MGP_129S1SvImJ_G0035938
protein coding gene ChrX:96423831-96850206 (+)
A/J MGP_AJ_G0035923
protein coding gene ChrX:96471071-96890083 (+)
AKR/J MGP_AKRJ_G0035839
protein coding gene ChrX:99259281-99679281 (+)
BALB/cJ MGP_BALBcJ_G0035906
protein coding gene ChrX:95236057-95647905 (+)
C3H/HeJ MGP_C3HHeJ_G0035615
protein coding gene ChrX:96866692-97288135 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036435
protein coding gene ChrX:99353717-99759946 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033265
protein coding gene ChrX:94287542-94685064 (+)
CAST/EiJ MGP_CASTEiJ_G0034902
protein coding gene ChrX:81180584-81593412 (+)
CBA/J MGP_CBAJ_G0035590
protein coding gene ChrX:102399514-102844141 (+)
DBA/2J MGP_DBA2J_G0035744
protein coding gene ChrX:95696349-96106823 (+)
FVB/NJ MGP_FVBNJ_G0035682
protein coding gene ChrX:95092114-95508647 (+)
LP/J MGP_LPJ_G0035834
protein coding gene ChrX:97414593-97820228 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035717
protein coding gene ChrX:106884510-107367646 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036462
protein coding gene ChrX:96150713-96556922 (+)
PWK/PhJ MGP_PWKPhJ_G0034601
protein coding gene ChrX:78812749-79214563 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034429
protein coding gene ChrX:82058120-82468112 (+)
WSB/EiJ MGP_WSBEiJ_G0035041
protein coding gene ChrX:94875296-95285645 (+)



Homology
more
  • Human Ortholog
    EDA, ectodysplasin A
  • Vertebrate Orthologs
    6
  • Human Ortholog
    EDA, ectodysplasin A
    Orthology source: HGNC
  • Synonyms
    ECTD1, ED1, ED1-A1, ED1-A2, EDA1, EDA2, EDA-A1, EDA-A2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED
  • Links
    NCBI Gene ID: 1896
    neXtProt AC: NX_Q92838
    UniProt: Q92838

  • Chr Location
    Xq13.1; chrX:69616067-70039472 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Eda mouse models; 2 with human EDA associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    80 phenotypes from 22 alleles in 17 genetic backgrounds
    43 phenotypes from multigenic genotypes
    5 images
    122 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.
Mutant hemizygous males and homozygous females have defects in ectodermal derivatives with absence of guard hairs, zigzags and tail hair, reduced eyelid opening, fewer vibrissae and defects of teeth and exocrine glands. Homozygous females are often sterile.
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
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 13607 NCBI Gene Model | MGI Sequence Detail 425155 C57BL/6J ±  kb
    transcript NM_001177943 RefSeq | MGI Sequence Detail 5105 C57BL/6  
    polypeptide O54693 UniProt | EBI | MGI Sequence Detail 391 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 10
      cDNA 28
      Primer pair 1
      Other 3

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-14700, MGI:98473
    References
    more
    • Summaries
      All 230
      Developmental Gene Expression 28
      Diseases 3
      Gene Ontology 14
      Phenotypes 122
    • Earliest
      J:78116 Falconer DS, et al., The environment in relation to selection for size in mice. J Genet. 1952;51:67-80
    • Latest
      J:264370 Sima J, et al., Eda-activated RelB recruits an SWI/SNF (BAF) chromatin-remodeling complex and initiates gene transcription in skin appendage formation. Proc Natl Acad Sci U S A. 2018 Aug 7;115(32):8173-8178

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory