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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EDA Gene

protein-coding   GIFtS: 63
GCID: GC0XP068752

Ectodysplasin A

(Previous names: ectodermal dysplasia 1, anhidrotic, oligodontia 1)
(Previous symbols: ED1, EDA2, ODT1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ectodysplasin A1 2     EDA-A12
ED11 2 3 5     EDA-A22
EDA21 2 3     EDA12
ODT11 2     HED12
Oligodontia 11 2     XHED2
HED2 5     XLHED2
STHAGX12 5     ectodysplasin-A2
Ectodermal Dysplasia 1, Anhidrotic1     X-Linked Anhidroitic Ectodermal Dysplasia Protein2
ECTD12     Ectodermal Dysplasia Protein3
ED1-A12     EDA Protein3
ED1-A22     

External Ids:    HGNC: 31571   Entrez Gene: 18962   Ensembl: ENSG000001588137   OMIM: 3004515   UniProtKB: Q928383   

Export aliases for EDA gene to outside databases

Previous GC identifers: GC0XP068618 GC0XP062655


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and hypohidrotic ectodermal dysplasia, and among its related super-pathways are TNF Signaling and STAT3 Pathway. GO annotations related to this gene include tumor necrosis factor receptor binding and receptor binding.

UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838
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

Gene Wiki entry for EDA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011669.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EDA gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEDA promoter sequence
   Search SABiosciences Chromatin IP Primers for EDA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EDA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq12-q13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq12-q13.1

EDA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EDA gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP068752:  view genomic region     (about GC identifiers)

Start:
68,835,911 bp from pter      End:
69,259,322 bp from pter
Size:
423,412 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838 (See protein sequence)
Recommended Name: Ectodysplasin-A  
Size: 391 amino acids; 41294 Da
Subunit: Homotrimer. The homotrimers may then dimerize and form higher-order oligomers
Subcellular location: Cell membrane; Single-pass type II membrane protein
Subcellular location: Ectodysplasin-A, secreted form: Secreted
Sequence caution: Sequence=AAC77372.1; Type=Miscellaneous discrepancy; Note=Intron retention;
2 PDB 3D structures from and Proteopedia for EDA:
1RJ7 (3D)        1RJ8 (3D)    
Secondary accessions: A0AUZ2 A2A337 B7ZLU2 B7ZLU4 O75910 Q5JS00 Q5JUM7 Q9UP77 Q9Y6L0 Q9Y6L1
Q9Y6L2 Q9Y6L3 Q9Y6L4
Alternative splicing: 8 isoforms:  Q92838-1   Q92838-2   Q92838-3   Q92838-5   Q92838-6   Q92838-7   Q92838-8   Q92838-9   
(May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for EDA: NX_Q92838

Explore proteomics data for EDA at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • UniProtKB: Processing by furin produces a secreted form
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92838

  • EDA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EDA Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001005609.1  NP_001005610.2  NP_001005612.2  NP_001005613.1  NP_001390.1  

    ENSEMBL proteins: 
     ENSP00000434195   ENSP00000434861   ENSP00000363681   ENSP00000363680   ENSP00000432585  
     ENSP00000423037   ENSP00000340611  

    Human Recombinant Protein Products for EDA: 
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    Enzo Life Sciences proteins for EDA
    OriGene Purified Protein for EDA
    OriGene Protein Over-expression Lysate for EDA
    OriGene MassSpec for EDA 
    OriGene Custom Protein Services for EDA
    GenScript Custom Purified and Recombinant Proteins Services for EDA
    Novus Biologicals EDA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EDA 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005581collagen IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005856cytoskeleton TAS10484778
    GO:0005886plasma membrane TAS10484778
    GO:0005887integral to plasma membrane IEA--

    EDA for ontologies           About GeneDecksing



    EDA Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for EDA 

    Assay Products for EDA: 
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    GenScript Custom Assay Services for EDA
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    Cloud-Clone Corp. ELISAs for EDA 
    Cloud-Clone Corp. CLIAs for EDA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TNFSF: Tumor necrosis factor (ligand) superfamily

    3 InterPro protein domains:
     IPR006052 TNF
     IPR008983 Tumour_necrosis_fac-like_dom
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry Q92838

    ProtoNet protein and cluster: Q92838

    2 Blocks protein domains:
    IPB006052 Tumor Necrosis Factor
    IPB008160 Collagen triple helix repeat


    UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838
    Similarity: Belongs to the tumor necrosis factor family
    Similarity: Contains 1 collagen-like domain


    EDA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EDA_HUMAN, Q92838
    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

         Summary:

    During embryonic development, EDA as signaling molecule is secreted from the following cells: Ectoderm Cells in Branchial Arch 1, Primary Hair Placode Cells in Hair Follicle

    It affects the following cells: Fetal Hair Placode Cells in Hair Follicle, Primary Enamel Knot Cells in Enamel Knot (see all 4).

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IDA11039935
    GO:0005164tumor necrosis factor receptor binding IEA--
    GO:0005515protein binding IPI11039935
         
    EDA for ontologies           About GeneDecksing


    Phenotypes:
         15/16 MGI mutant phenotypes (inferred from 22 alleles(MGI details for Eda) (see all 16):
     cardiovascular system  craniofacial  digestive/alimentary  endocrine/exocrine gland  growth/size 
     immune system  integument  limbs/digits/tail  mortality/aging  nervous system 
     pigmentation  renal/urinary system  reproductive system  respiratory system  skeleton 

    EDA for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EDA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EDA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EDA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EDA 

    miRNA
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    8/84 QIAGEN miScript miRNA Assays for microRNAs that regulate EDA (see all 84):
    hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-4254 hsa-miR-15a hsa-miR-138-2* hsa-miR-342-3p hsa-miR-3921 hsa-miR-149
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): EDA (NM_001399)
    Sino Biological Human cDNA Clone for EDA
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                         Customized lentivirus expression plasmids for stable overexpression of EDA 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EDA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TNF Signaling
    TNF Signaling0.50
    TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions0.49
    Death Receptor Signaling0.50
    NF-kB (NFkB) Pathway0.46
    2PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for EDA
        TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions


    3 Sino Biological Pathways for EDA 
        TNF Signaling
    Death Receptor Signaling
    NF-kB (NFkB) Pathway


    1         Kegg Pathway  (Kegg details for EDA):
        Cytokine-cytokine receptor interaction


    EDA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EDA

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for EDA (Q928383 ENSP000003636804) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FURINP099583, ENSP000002681714I2D: score=2 STRING: ENSP00000268171
    EDARQ9UNE03, ENSP000002584434I2D: score=3 STRING: ENSP00000258443
    EDA2RQ9HAV53, ENSP000003638514I2D: score=1 STRING: ENSP00000363851
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001942hair follicle development ----
    GO:0006955immune response IEA--
    GO:0007160cell-matrix adhesion IEA--
    GO:0007165signal transduction TAS8696334
    GO:0007398ectoderm development TAS8696334

    EDA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EDA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EDA

    1 Novoseek inferred chemical compound relationship for EDA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 10.4 5 19127222 (1), 16583127 (1), 15663448 (1), 20486090 (1)

    Search CenterWatch for drugs/clinical trials and news about EDA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EDA gene (7 alternative transcripts): 
    NM_001005609.1  NM_001005610.2  NM_001005612.2  NM_001005613.2  NM_001399.4  NM_001005611.1  NM_001005614.1  

    Unigene Cluster for EDA:

    Ectodysplasin A
    Hs.105407  [show with all ESTs]
    Unigene Representative Sequence: AF040628
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525810 ENST00000527388 ENST00000533317(uc004dxm.1 uc004dxn.1)
    ENST00000374548(uc004dxq.1) ENST00000502251(uc004dxp.1) ENST00000374553(uc011mpj.2 uc004dxr.3)
    ENST00000374552(uc004dxs.3) ENST00000524573 ENST00000503592 ENST00000510681
    ENST00000530321 ENST00000338901
    miRNA
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    8/84 QIAGEN miScript miRNA Assays for microRNAs that regulate EDA (see all 84):
    hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-4254 hsa-miR-15a hsa-miR-138-2* hsa-miR-342-3p hsa-miR-3921 hsa-miR-149
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDA
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    Additional mRNA sequence: 

    AF040628.1 AF060999.1 AF061189.1 AF061190.1 AF061191.1 AF061192.1 AF061193.1 AF061194.1 
    AK311532.1 BC126143.1 BC144049.1 BC144051.1 U59228.1 

    7 DOTS entries:

    DT.206235  DT.121314494  DT.91759198  DT.91759200  DT.92324381  DT.206070  DT.92009460 

    24/33 AceView cDNA sequences (see all 33):

    BQ676905 BU681223 BU608133 BU185670 AA363334 AI015138 BQ004154 BQ008767 
    BQ682012 AF060999 AF040628 NM_001399 AI689443 BU162989 AI373646 BE892420 
    AA497125 AF061192 BX100215 AW473357 BF002957 BF935871 AF061193 BE159499 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for EDA    About this scheme

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


    ECgene alternative splicing isoforms for EDA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EDA expression in normal human tissues (normalized intensities)      EDA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    EDA Expression
    About this image


    EDA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Ectoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Ectoderm Cells Branchial Arch 1
             Rathke's Pouch
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Head Mesenchyme (Muscoskeletal System)
             Ectoderm Cells Branchial Arch 1
     
     Hair (Integumentary System)
             Primary Hair Placode Cells Hair Follicle

    See EDA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EDA

    SOURCE GeneReport for Unigene cluster: Hs.105407

    UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including EDA: 
              Apoptosis 384HT in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EDA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for EDA gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eda1 , 5 ectodysplasin-A1, 5 91.36(n)1
    94.56(a)1
      X (43.59 cM)5
    136071  NM_010099.21  NP_034229.11 
     999756065 
    chicken
    (Gallus gallus)
    Aves EDA1 ectodysplasin A 82.08(n)
    92.49(a)
      769069  XM_003641131.1  XP_003641179.1 
    zebrafish
    (Danio rerio)
    Actinopterygii eda1 ectodysplasin A 62.82(n)
    61.99(a)
      798740  NM_001115065.1  NP_001108537.1 
    worm
    (Caenorhabditis elegans)
    Secernentea col-1286
    col-1216
    (see all 4)
    Protein COL-121
    (see all 4)
    9(a)
    8(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    IV(11550001-11551960)
    IV(9394934-9396218)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5439 SNPs in EDA are shown (see all 5439)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0106124
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)4--see VAR_0106122 L R mis40--------
    VAR_0544674
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)4--see VAR_0544672 Q H mis40--------
    VAR_0110794
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)4--see VAR_0110792 W G mis40--------
    VAR_0648684
    Tooth agenesis selective X-linked 1 (STHAGX1)4--see VAR_0648682 T M mis40--------
    VAR_0134874
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)4--see VAR_0134872 F S mis40--------
    VAR_0051854
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)4--see VAR_0051852 P L mis40--------
    VAR_0106144
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)4--see VAR_0106142 G W mis40--------
    VAR_0051864
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)4--see VAR_0051862 G A mis40--------
    VAR_0648674
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)4--see VAR_0648672 V G mis40--------
    VAR_0544704
    Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)4--see VAR_0544702 Y C mis40--------

    HapMap Linkage Disequilibrium report for EDA (68835911 - 69085911 bp, first 250kb of EDA)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for EDA (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675436CNV Deletion23128226
    esv2658208CNV Deletion23128226
    nsv6948CNV Insertion18451855
    nsv6946CNV Insertion18451855
    nsv6949CNV Insertion18451855
    nsv521471CNV Loss19592680
    nsv6947CNV Loss18451855
    esv33223CNV Loss17666407
    nsv526923CNV Gain19592680
    nsv524859CNV Gain19592680


    Human Gene Mutation Database (HGMD): EDA

    Locus Specific Mutation Databases (LSDB): EDA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EDA
    DNA2.0 Custom Variant and Variant Library Synthesis for EDA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300451   
    OMIM disorders: 305100  313500  
    UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838
  • 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.
    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). Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 19 diseases for EDA:    About MalaCards
    ectodermal dysplasia    hypohidrotic ectodermal dysplasia    hypohidrosis    tooth agenesis, selective, x-linked, 1
    craniofrontonasal syndrome    tooth agenesis    taurodontism    cerebral artery occlusion
    hypotrichosis    neuritis    cerebrovascular accident    keratoconus
    rabies    vascular disease    cerebritis    kidney disease
    hepatitis b    hepatitis    prostatitis

    6 diseases from the University of Copenhagen DISEASES database for EDA:
    Hypohidrotic ectodermal dysplasia     Kidney disease     Hypohidrosis     Vascular disease
    Neuritis     Ureteral disease

    EDA for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for EDA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ectodermal dysplasia, hypohidrotic 98.6 76 12673367 (3), 18666859 (3), 12021844 (3), 17686277 (2) (see all 43)
    ectodermal dysplasia 90.7 12 19504606 (2), 17371397 (1), 18510547 (1), 19828977 (1) (see all 9)
    hypodontia 90.1 21 19278982 (4), 18821982 (2), 18688569 (2), 19551394 (2) (see all 8)
    hypohidrosis 87.4 3 19127222 (1)
    genetic disorder 56.2 1 11416205 (1)
    necrosis 40.3 25 15294294 (2), 16547002 (1), 17371397 (1), 14699584 (1) (see all 15)
    tumors 7.13 22 15294294 (2), 16547002 (1), 17371397 (1), 14699584 (1) (see all 13)
    immunodeficiency 0 2 19504606 (1)

    GeneTests: EDA
    GeneReviews: EDA
    Genetic Association Database (GAD): EDA
    Human Genome Epidemiology (HuGE) Navigator: EDA (6 documents)

    Export disorders for EDA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EDA gene, integrated from 9 sources (see all 135):
    (articles sorted by number of sources associating them with EDA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. (PubMed id 16583127)1, 2, 3, 9 Tao R.... He L. (2006)
    2. Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. (PubMed id 18657636)1, 2, 3 Han D....Song S. (2008)
    3. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. (PubMed id 8696334)1, 2, 3 Kere J.... Schlessinger D. (1996)
    4. Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. (PubMed id 19127222)1, 2, 9 Gunadi ....Nishio H. (2009)
    5. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. (PubMed id 11416205)1, 2, 9 Chen Y.... Morris N.P. (2001)
    6. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. (PubMed id 9736768)1, 2, 9 Bayes M.... Kere J. (1998)
    7. Missense mutation of the EDA gene in a Jordanian fami ly with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and s peech problems. (PubMed id 20486090)1, 2, 9 Khabour O.F....Owais A.I. (2010)
    8. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. (PubMed id 11378824)1, 2, 9 Vincent M.-C.... Calvas P. (2001)
    9. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. (PubMed id 19438931)1, 2, 9 Shimomura Y....Christiano A.M. (2009)
    10. A novel Gln358Glu mutation in ectodysplasin A associated with X- linked dominant incisor hypodontia. (PubMed id 17256800)1, 2, 9 Tarpey P....Patel P.I. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1896 HGNC: 3157 AceView: EDA Ensembl:ENSG00000158813 euGenes: HUgn1896
    ECgene: EDA Kegg: 1896 H-InvDB: EDA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EDA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EDA Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EDA gene:
    Search GeneIP for patents involving EDA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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