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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

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Molecular Biology Databases
Research Materials