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Aliases for EDA Gene

Aliases for EDA Gene

  • Ectodysplasin A 2 3
  • ED1 3 4 6
  • Oligodontia 1 2 3
  • STHAGX1 3 6
  • ECTD1 3 6
  • EDA2 3 4
  • HED1 3 6
  • X-Linked Anhidroitic Ectodermal Dysplasia Protein 3
  • Ectodermal Dysplasia 1, Anhidrotic 2
  • Ectodermal Dysplasia Protein 4
  • Ectodysplasin-A 3
  • EDA Protein 4
  • ED1-A1 3
  • ED1-A2 3
  • EDA-A1 3
  • EDA-A2 3
  • XLHED 3
  • EDA1 3
  • XHED 3
  • ODT1 3
  • HED 3
  • EDA 6

External Ids for EDA Gene

Previous HGNC Symbols for EDA Gene

  • ED1
  • EDA2
  • ODT1

Previous GeneCards Identifiers for EDA Gene

  • GC0XP068618
  • GC0XP068752
  • GC0XP062655

Summaries for EDA Gene

Entrez Gene Summary for EDA Gene

  • The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for EDA Gene

EDA (Ectodysplasin A) is a Protein Coding gene. Diseases associated with EDA include ectodermal dysplasia 1, hypohidrotic, x-linked and tooth agenesis, selective, x-linked 1. Among its related pathways are TNF Signaling and TNF Signaling. GO annotations related to this gene include receptor binding and tumor necrosis factor receptor binding.

UniProtKB/Swiss-Prot for EDA Gene

  • Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR

Gene Wiki entry for EDA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDA Gene

Genomics for EDA Gene

Regulatory Elements for EDA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EDA Gene

69,616,067 bp from pter
70,039,472 bp from pter
423,406 bases
Plus strand

Genomic View for EDA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EDA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDA Gene

Proteins for EDA Gene

  • Protein details for EDA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A0AUZ2
    • A2A337
    • B7ZLU2
    • B7ZLU4
    • O75910
    • Q5JS00
    • Q5JUM7
    • Q9UP77
    • Q9Y6L0
    • Q9Y6L1
    • Q9Y6L2
    • Q9Y6L3
    • Q9Y6L4

    Protein attributes for EDA Gene

    391 amino acids
    Molecular mass:
    41294 Da
    Quaternary structure:
    • Homotrimer. The homotrimers may then dimerize and form higher-order oligomers.
    • Sequence=AAC77372.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EDA Gene

    Alternative splice isoforms for EDA Gene

neXtProt entry for EDA Gene

Proteomics data for EDA Gene at MOPED

Post-translational modifications for EDA Gene

Antibody Products

  • R&D Systems Antibodies for EDA (EDA/Ectodysplasin)
  • R&D Systems Antibodies for EDA (EDA-A1/Ectodysplasin A1)
  • R&D Systems Antibodies for EDA (EDA-A2/Ectodysplasin A2)

No data available for DME Specific Peptides for EDA Gene

Domains for EDA Gene

Gene Families for EDA Gene

Suggested Antigen Peptide Sequences for EDA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 collagen-like domain.
  • Belongs to the tumor necrosis factor family.
  • Contains 1 collagen-like domain.
  • Belongs to the tumor necrosis factor family.
genes like me logo Genes that share domains with EDA: view

Function for EDA Gene

Molecular function for EDA Gene

UniProtKB/Swiss-Prot Function:
Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR

LifeMap Function Summary for EDA Gene

During embryonic development, EDA as signaling molecule is secreted from the following cells

Gene Ontology (GO) - Molecular Function for EDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IDA 11039935
GO:0005164 tumor necrosis factor receptor binding IEA --
GO:0005515 protein binding IPI 11039935
genes like me logo Genes that share ontologies with EDA: view
genes like me logo Genes that share phenotypes with EDA: view

Animal Model Products

miRNA for EDA Gene

miRTarBase miRNAs that target EDA

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDA

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EDA Gene

Localization for EDA Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDA Gene

Cell membrane; Single-pass type II membrane protein.
Ectodysplasin-A, secreted form: Secreted.

Subcellular locations from

Jensen Localization Image for EDA Gene COMPARTMENTS Subcellular localization image for EDA gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 4
endoplasmic reticulum 2
nucleus 2
cytosol 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for EDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005581 collagen trimer IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005856 cytoskeleton TAS 10484778
GO:0005886 plasma membrane TAS 10484778
genes like me logo Genes that share ontologies with EDA: view

Pathways for EDA Gene

genes like me logo Genes that share pathways with EDA: view

Pathways by source for EDA Gene

3 Sino Biological pathways for EDA Gene
1 Qiagen pathway for EDA Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for EDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development --
GO:0006955 immune response IEA --
GO:0007160 cell-matrix adhesion IEA --
GO:0007165 signal transduction TAS 8696334
GO:0007398 ectoderm development TAS 8696334
genes like me logo Genes that share ontologies with EDA: view

Drugs for EDA Gene

(1) Drugbank Compounds for EDA Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
Citric Acid
  • 2-Hydroxytricarballylic acid
77-92-9 Target nutraceutical

(1) Novoseek inferred chemical compound relationships for EDA Gene

Compound -log(P) Hits PubMed IDs
arginine 10.4 4
genes like me logo Genes that share compounds with EDA: view

Transcripts for EDA Gene

Unigene Clusters for EDA Gene

Ectodysplasin A:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDA

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
SP1: -
SP2: - -
SP3: - -

Relevant External Links for EDA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EDA Gene

mRNA expression in normal human tissues for EDA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDA Gene

This gene is overexpressed in Heart - Atrial Appendage (4.0).

Protein differential expression in normal tissues for EDA Gene

This gene is overexpressed in Breast (53.7) and Heart (15.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EDA Gene

SOURCE GeneReport for Unigene cluster for EDA Gene Hs.105407

mRNA Expression by UniProt/SwissProt for EDA Gene

Tissue specificity: Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord.
genes like me logo Genes that share expressions with EDA: view

Expression partners for EDA Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for EDA Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDA Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Eda 16
Eda 36
  • 94 (a)
(Bos Taurus)
Mammalia EDA 36
  • 94 (a)
(Canis familiaris)
Mammalia EDA 36
  • 97 (a)
(Monodelphis domestica)
Mammalia EDA 36
  • 78 (a)
(Pan troglodytes)
Mammalia EDA 36
  • 100 (a)
(Gallus gallus)
Aves EDA 36
  • 89 (a)
(Danio rerio)
Actinopterygii eda 36
  • 53 (a)
Species with no ortholog for EDA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDA Gene

Gene Tree for EDA (if available)
Gene Tree for EDA (if available)

Paralogs for EDA Gene

No data available for Paralogs for EDA Gene

Variants for EDA Gene

Sequence variations from dbSNP and Humsavar for EDA Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs5936527 -- 69,992,811(+) attAA(C/T)GTAGT intron-variant
rs5936528 -- 69,994,060(+) ATATT(A/G)ACTTC intron-variant
rs5936529 -- 69,998,793(+) gaaac(A/C/G/T)tgtgt intron-variant
rs5936530 -- 70,011,030(+) CTATT(C/T)GTTGC intron-variant
rs5936531 -- 70,034,910(+) CCTCT(C/G)TGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EDA Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
esv33259 CNV Gain 17666407
esv33223 CNV Loss 17666407
nsv6946 CNV Insertion 18451855
nsv6947 CNV Loss 18451855
nsv524859 CNV Gain 19592680
nsv521471 CNV Loss 19592680
esv2658208 CNV Deletion 23128226
nsv526923 CNV Gain 19592680
esv2675436 CNV Deletion 23128226
nsv520990 CNV Gain 19592680
nsv6948 CNV Insertion 18451855
nsv6949 CNV Insertion 18451855

Relevant External Links for EDA Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDA Gene

Disorders for EDA Gene

(2) OMIM Diseases for EDA Gene (300451)


  • Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. {ECO:0000269 PubMed:10469321, ECO:0000269 PubMed:10951256, ECO:0000269 PubMed:11279189, ECO:0000269 PubMed:11295832, ECO:0000269 PubMed:11343303, ECO:0000269 PubMed:11378824, ECO:0000269 PubMed:12225002, ECO:0000269 PubMed:12932274, ECO:0000269 PubMed:17256800, ECO:0000269 PubMed:18231121, ECO:0000269 PubMed:19127222, ECO:0000269 PubMed:19438931, ECO:0000269 PubMed:20486090, ECO:0000269 PubMed:20979233, ECO:0000269 PubMed:22008666, ECO:0000269 PubMed:22350046, ECO:0000269 PubMed:8696334, ECO:0000269 PubMed:9507389, ECO:0000269 PubMed:9630076, ECO:0000269 PubMed:9683615, ECO:0000269 PubMed:9736768}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tooth agenesis selective X-linked 1 (STHAGX1) [MIM:313500]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). {ECO:0000269 PubMed:16583127, ECO:0000269 PubMed:18657636, ECO:0000269 PubMed:19278982, ECO:0000269 PubMed:23603338, ECO:0000269 PubMed:23625373, ECO:0000269 PubMed:24487376}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for EDA Gene

Disease -log(P) Hits PubMed IDs
ectodermal dysplasia, hypohidrotic 98.6 61
ectodermal dysplasia 90.7 10
hypodontia 90.1 14
hypohidrosis 87.4 1
genetic disorder 56.2 1

Relevant External Links for EDA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with EDA: view

No data available for Genatlas for EDA Gene

Publications for EDA Gene

  1. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. (PMID: 16583127) Tao R. … He L. (J. Hum. Genet. 2006) 2 3 4 23
  2. EDA gene mutations underlie non-syndromic oligodontia. (PMID: 19278982) Song S. … Feng H. (J. Dent. Res. 2009) 3 4 23
  3. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. (PMID: 11378824) Vincent M.-C. … Calvas P. (Eur. J. Hum. Genet. 2001) 3 4 23
  4. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. (PMID: 9736768) Bayes M. … Kere J. (Hum. Mol. Genet. 1998) 3 4 23
  5. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. (PMID: 9507389) Ferguson B.M. … Zonana J. (J. Med. Genet. 1998) 3 4 23

Products for EDA Gene

Sources for EDA Gene

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