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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
  • Ectodysplasin-A 3
  • 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 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked and Tooth Agenesis, Selective, X-Linked 1. 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

  • Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity).

  • Isoform 1: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.

  • Isoform 3: Binds only to the receptor EDA2R.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

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

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)
  • Abcam antibodies for EDA

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:
Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394). May also play a role in cell adhesion (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 1: Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.
UniProtKB/Swiss-Prot Function:
Isoform 3: Binds only to the receptor EDA2R.

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

Human Phenotype Ontology for EDA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for EDA Gene

miRTarBase miRNAs that target EDA

Clone 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

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: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 --
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:0006955 immune response IEA --
GO:0007160 cell-matrix adhesion IEA --
GO:0007165 signal transduction TAS --
GO:0007398 ectoderm development TAS --
GO:0010467 gene expression 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:

CRISPR Products

Clone Products

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
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



Protein tissue co-expression partners for EDA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EDA Gene:

EDA

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

Primer 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 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EDA 35
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EDA 35
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eda 35
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EDA 35
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDA 35
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii eda 35
  • 53 (a)
OneToOne
Species where no ortholog for EDA was found in the sources mined by GeneCards:
  • 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
rs132630308 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) 69,616,489(+) GCTGC(C/T)ACCTA reference, missense
rs132630311 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) 69,616,495(+) ACCTA(A/G)AGTTG reference, missense
rs132630309 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) 69,616,514(+) GTTGC(G/T)GCGGG reference, missense
rs132630312 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) 69,957,093(+) GTGTT(C/T)GCCGC reference, missense
rs132630313 Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) 69,957,096(+) TTCGC(C/T)GCAAT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv4254n106 CNV duplication 24896259
esv1584074 OTHER inversion 17803354
esv2658208 CNV deletion 23128226
esv2675436 CNV deletion 23128226
esv33223 CNV loss 17666407
esv33259 CNV gain 17666407
esv3558946 CNV deletion 23714750
esv3574028 CNV loss 25503493
nsv1078115 CNV duplication 25765185
nsv1128538 CNV deletion 24896259
nsv1146980 CNV duplication 26484159
nsv1149363 CNV duplication 26484159
nsv1151315 CNV duplication 26484159
nsv478646 CNV novel sequence insertion 20440878
nsv520990 CNV gain 19592680
nsv521471 CNV loss 19592680
nsv524859 CNV gain 19592680
nsv526923 CNV gain 19592680
nsv6946 CNV insertion 18451855
nsv6947 CNV deletion 18451855
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

Human Gene Mutation Database (HGMD)
EDA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDA

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

Disorders for EDA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ectodermal dysplasia 1, hypohidrotic, x-linked
  • christ-siemens-touraine syndrome
tooth agenesis, selective, x-linked 1
  • tooth agenesis, selective, x-linked, 1
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
  • hypohidrotic ectodermal dysplasia
tooth agenesis
  • familial tooth agenesis
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:27144394, 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 22 65
  2. 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 4 22 65
  3. 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 4 22 65
  4. EDA gene mutations underlie non-syndromic oligodontia. (PMID: 19278982) Song S. … Feng H. (J. Dent. Res. 2009) 3 4 22 65
  5. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. (PMID: 19438931) Shimomura Y. … Christiano A.M. (Clin. Genet. 2009) 3 4 22 65

Products for EDA Gene

Sources for EDA Gene

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