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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
Location & Maps
more
  • Sequence Map
    ChrX:99975606-100400762 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      425157 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 43.59 cM
  • Mapping Data
    94 experiments
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

  • Chr Location
    Xq12-q13.1; chrX:69616067-70039472 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; XHED   OMIM: 305100 View 2 models
       Tooth Agenesis, Selective, X-Linked, 1; STHAGX1   OMIM: 313500
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
    75 phenotypes from 22 alleles in 16 genetic backgrounds
    42 phenotypes from multigenic genotypes
    5 images
    109 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.
  • All Mutations and Alleles
    24
  • Chemically and radiation induced
    2
  • Chemically induced (ENU)
    2
  • Radiation induced
    5
  • Spontaneous
    14
  • Targeted
    1
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
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 OTTMUSG00000018058 VEGA Gene Model | MGI Sequence Detail 425157 C57BL/6J ±  kb
transcript OTTMUST00000043583 VEGA | MGI Sequence Detail 4955 Not Applicable  
polypeptide OTTMUSP00000019583 VEGA | MGI Sequence Detail 391 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    919 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000006886 ectodysplasin-A
  • InterPro Domains
    IPR006052 Tumour necrosis factor domain
    IPR008983 Tumour necrosis factor-like domain
Molecular
Reagents
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  • All nucleic 41
    Genomic 10
    cDNA 27
    Primer pair 1
    Other 3

    Microarray probesets 9
Other
Accession IDs
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MGD-MRK-14700, MGI:98473
References
more
  • Summaries
    All 211
    Developmental Gene Expression 25
    Diseases 2
    Gene Ontology 14
    Phenotypes 109
  • 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:231540 Garcin CL, et al., Ectodysplasin A Pathway Contributes to Human and Murine Skin Repair. J Invest Dermatol. 2016 May;136(5):1022-30

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
09/27/2016
MGI 6.05
The Jackson Laboratory