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Aliases for EDA Gene

Aliases for EDA Gene

  • Ectodysplasin A 2 3 5
  • Oligodontia 1 2 3
  • EDA2 3 4
  • ED1 3 4
  • X-Linked Anhidroitic Ectodermal Dysplasia Protein 3
  • Ectodermal Dysplasia 1, Anhidrotic 2
  • Tumor Necrosis Factor Ligand 7C 3
  • Ectodermal Dysplasia Protein 4
  • EDA Protein 4
  • STHAGX1 3
  • ED1-A1 3
  • ED1-A2 3
  • EDA-A1 3
  • EDA-A2 3
  • TNLG7C 3
  • ECTD1 3
  • XLHED 3
  • EDA1 3
  • HED1 3
  • XHED 3
  • ODT1 3
  • HED 3

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 tooth agenesis, selective, x-linked 1 and ectodermal dysplasia 1, hypohidrotic, x-linked. Among its related pathways are PEDF Induced Signaling and TNF Signaling (sino). 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

Enhancers for EDA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EDA on UCSC Golden Path with GeneCards custom track

Promoters for EDA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EDA on UCSC Golden Path with GeneCards custom track

Genomic Location for EDA Gene

Chromosome:
X
Start:
69,616,067 bp from pter
End:
70,039,472 bp from pter
Size:
423,406 bases
Orientation:
Plus strand

Genomic View for EDA Gene

Genes around EDA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q92838-EDA_HUMAN
    Recommended name:
    Ectodysplasin-A
    Protein Accession:
    Q92838
    Secondary Accessions:
    • A0AUZ2
    • A2A337
    • B7ZLU2
    • B7ZLU4
    • O75910
    • Q5JS00
    • Q5JUM7
    • Q9UP77
    • Q9Y6L0
    • Q9Y6L1
    • Q9Y6L2
    • Q9Y6L3
    • Q9Y6L4

    Protein attributes for EDA Gene

    Size:
    391 amino acids
    Molecular mass:
    41294 Da
    Quaternary structure:
    • Homotrimer. The homotrimers may then dimerize and form higher-order oligomers.
    SequenceCaution:
    • 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-A2/Ectodysplasin A2)
  • R&D Systems Antibodies for EDA (EDA-A1/Ectodysplasin A1)
  • R&D Systems Antibodies for EDA (EDA/Ectodysplasin)

No data available for DME Specific Peptides for EDA Gene

Domains & Families for EDA Gene

Gene Families for EDA Gene

Protein Domains for EDA Gene

Suggested Antigen Peptide Sequences for EDA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92838

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for EDA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for EDA Gene

miRTarBase miRNAs that target EDA

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for EDA Gene COMPARTMENTS Subcellular localization image for EDA gene
Compartment Confidence
cytoskeleton 5
extracellular 5
plasma membrane 5
endoplasmic reticulum 3
lysosome 2
nucleus 2
vacuole 2
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,TAS 8696334
GO:0016021 integral component of membrane TAS 8696334
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with EDA: view

Pathways & Interactions for EDA Gene

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

SIGNOR curated interactions for EDA Gene

Activates:

Gene Ontology (GO) - Biological Process for EDA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 8696334
GO:0007398 ectoderm development TAS 8696334
GO:0010467 gene expression IEA --
GO:0010628 positive regulation of gene expression IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with EDA: view

Drugs & Compounds for EDA Gene

(1) Drugs for EDA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EDA: view

Transcripts for EDA Gene

Unigene Clusters for EDA Gene

Ectodysplasin A:
Representative Sequences:

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
EDA
ECgene alternative splicing isoforms for
EDA

Expression for EDA Gene

mRNA expression in normal human tissues for EDA Gene

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

This gene is overexpressed in Heart - Atrial Appendage (x4.0).

Protein differential expression in normal tissues from HIPED for EDA Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q92838-EDA_HUMAN
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 expression patterns with EDA: view

Protein tissue co-expression partners for EDA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for EDA Gene

Orthologs for EDA Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EDA 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EDA 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EDA 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eda 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EDA 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDA 36
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii eda 36
  • 53 (a)
OneToOne
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

ENSEMBL:
Gene Tree for EDA (if available)
TreeFam:
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
VAR_005179 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
VAR_005180 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
rs132630309 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) 69,616,514(+) GTTGC(G/T)GCGGG reference, missense
VAR_005182 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
VAR_005183 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)

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

Variation tolerance for EDA Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDA Gene

HapMap Linkage Disequilibrium report
EDA
Human Gene Mutation Database (HGMD)
EDA

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

Disorders for EDA Gene

MalaCards: The human disease database

(20) MalaCards diseases for EDA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tooth agenesis, selective, x-linked 1
  • tooth agenesis, selective, x-linked, 1
ectodermal dysplasia 1, hypohidrotic, x-linked
  • christ-siemens-touraine syndrome
tooth agenesis
  • familial tooth agenesis
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
  • hypohidrotic ectodermal dysplasia
ectodermal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search EDA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EDA_HUMAN
  • 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:24724966, 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.

Relevant External Links for EDA

Genetic Association Database (GAD)
EDA
Human Genome Epidemiology (HuGE) Navigator
EDA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDA
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 67
  2. Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. (PMID: 19623212) Mues G. … D'Souza R.N. (Eur. J. Hum. Genet. 2010) 3 23
  3. Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems. (PMID: 20486090) Khabour O.F. … Owais A.I. (Genet. Mol. Res. 2010) 3 23
  4. A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia. (PMID: 18702659) Zhang H. … Zhang X.J. (Clin. Exp. Dermatol. 2009) 3 23
  5. Two novel mutations in the ED1 gene in Japanese families with X- linked hypohidrotic ectodermal dysplasia. (PMID: 19127222) Gunadi X. … Nishio H. (Pediatr. Res. 2009) 3 23

Products for EDA Gene

Sources for EDA Gene

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