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    EDA ectodysplasin A [ Bos taurus (domestic cattle) ]

    Gene ID: 616179, updated on 4-Oct-2024

    Summary

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    Official Symbol
    EDAprovided by VGNC
    Official Full Name
    ectodysplasin Aprovided by VGNC
    Primary source
    VGNC:VGNC:28316
    See related
    Ensembl:ENSBTAG00000012543
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Also known as
    ED1
    Orthologs
    human mouse all
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    Genomic context

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    See EDA in Genome Data Viewer
    Location:
    chromosome: X
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_09 current ARS-UCD2.0 (GCF_002263795.3) X NC_037357.1 (80405885..80803385, complement)

    Chromosome X - NC_037357.1Genomic Context describing neighboring genes Neighboring gene OTU deubiquitinase 6A Neighboring gene general transcription factor IIF subunit 2-like Neighboring gene acyl-CoA wax alcohol acyltransferase 2 Neighboring gene ribosomal protein L23a pseudogene Neighboring gene large ribosomal subunit protein uL22-like Neighboring gene coenzyme Q-binding protein COQ10 homolog B, mitochondrial-like Neighboring gene NALCN channel auxiliary factor 2

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_037357.1 Chromosome X Reference ARS-UCD2.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses. Krull F, et al. PLoS One, 2024. PMID 38252617, Free PMC Article
    2. Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. Karlskov-Mortensen P, et al. Anim Genet, 2011 Dec. PMID 22034998
    3. A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia. Gargani M, et al. BMC Vet Res, 2011 Jul 8. PMID 21740563, Free PMC Article
    4. A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle. Ogino A, et al. Hereditas, 2011 Feb. PMID 21410470
    5. A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle. Drögemüller C, et al. J Mol Med (Berl), 2002 May. PMID 12021844

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses.
      Title: A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses.
    2. Authors identifya mutation, never described before, that changes the regulation of alternative splicing in the EDA gene and causes ectodermal dysplasia in cattle.
      Title: A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia.
    3. The 161-bp-long LINE1-derived-pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.
      Title: Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle.
    4. describe a novel mutation of the EDA gene in which a 19 bp deletion in exon 1 in male Holstein calves demonstrated the phenotypic features of EDA
      Title: A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle.
    5. A single point mutation within this gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle
      Title: A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables death receptor agonist activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables death receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables tumor necrosis factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in animal organ development IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ectodysplasin-A
    Names
    Ectodysplasin 1
    ectodermal dysplasia 1, anhidrotic
    ectodermal dysplasia protein
    ectodysplasin-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081743.2 → NP_001075212.1  ectodysplasin-A

      See identical proteins and their annotated locations for NP_001075212.1

      Status: PROVISIONAL

      Source sequence(s)
      AJ300468
      UniProtKB/Swiss-Prot
      Q9BEG5, Q9BEG6
      Related
      ENSBTAP00000016649.7, ENSBTAT00000016649.7
      Conserved Domains (1) summary
      cd00184
      Location:249 → 383
      TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...

    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2023_09

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037357.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      80405885..80803385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005228033.5 → XP_005228090.1  ectodysplasin-A isoform X2

      See identical proteins and their annotated locations for XP_005228090.1

      Conserved Domains (1) summary
      cd00184
      Location:249 → 380
      TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...

    2. XM_005228034.5 → XP_005228091.1  ectodysplasin-A isoform X3

      See identical proteins and their annotated locations for XP_005228091.1

      Conserved Domains (1) summary
      cd00184
      Location:249 → 378
      TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...

    3. XM_005228032.5 → XP_005228089.1  ectodysplasin-A isoform X1

      See identical proteins and their annotated locations for XP_005228089.1

      UniProtKB/Swiss-Prot
      Q9BEG5
      Conserved Domains (1) summary
      cd00184
      Location:249 → 381
      TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...

    4. XM_059883546.1 → XP_059739529.1  ectodysplasin-A isoform X4

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BEG5.2 GenPept UniProtKB/Swiss-Prot:Q9BEG5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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    Research Materials