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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:99019212-99444366 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 43.59 cM
  • Mapping Data
    94 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6545 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:99019212-99444368 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EDA, ectodysplasin A
  • 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
Human Diseases
more
  • Diseases
    1 with Eda mouse models; 2 with human EDA 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
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    80 phenotypes from 22 alleles in 17 genetic backgrounds
    43 phenotypes from multigenic genotypes
    5 images
    155 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.
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
less
  • All GO Annotations
    43
  • GO References
    18
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
    879
  • Tissues
    115
  • cDNA Data
    27
  • Literature Summary
    30
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide O54693 UniProt | EBI | MGI Sequence Detail 391 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 10
      cDNA 29
      Primer pair 3
      Other 4

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-14700, MGI:98473
    References
    more
    • Summaries
      All 267
      Developmental Gene Expression 30
      Diseases 3
      Gene Ontology 18
      Phenotypes 155
    • Earliest
      J:78116 Falconer DS, et al., The environment in relation to selection for size in mice. J Genet. 1952;51(1):67-80
    • Latest
      J:350462 Papagno V, et al., Wnt target gene Ascl4 is dispensable for skin appendage development. Int J Dev Biol. 2024 May 13;
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory