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    EDA ectodysplasin A [ Homo sapiens (human) ]

    Gene ID: 1896, updated on 17-Dec-2023

    Summary

    Official Symbol
    EDAprovided by HGNC
    Official Full Name
    ectodysplasin Aprovided by HGNC
    Primary source
    HGNC:HGNC:3157
    See related
    Ensembl:ENSG00000158813 MIM:300451; AllianceGenome:HGNC:3157
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ED1; HED; EDA1; EDA2; HED1; ODT1; XHED; ECTD1; XLHED; ED1-A1; ED1-A2; EDA-A1; EDA-A2; TNLG7C; STHAGX1
    Summary
    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]
    Expression
    Broad expression in adrenal (RPKM 1.8), thyroid (RPKM 1.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EDA in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (69616113..70039472)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68049526..68472825)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (68835957..69259322)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chrX:68725122-68725295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68726227-68726726 Neighboring gene CYCS pseudogene 43 Neighboring gene NALCN channel auxiliary factor 2 Neighboring gene MPRA-validated peak7391 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20888 Neighboring gene uncharacterized LOC124905293 Neighboring gene RNA, 5S ribosomal pseudogene 506 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:68925458-68926249 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:69058411-69058611 Neighboring gene PRKX pseudogene 2 Neighboring gene CCR4-NOT transcription complex subunit 7 pseudogene 1 Neighboring gene microRNA 676 Neighboring gene acyl-CoA wax alcohol acyltransferase 2 Neighboring gene OTU deubiquitinase 6A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hypohidrotic X-linked ectodermal dysplasia Compare labs
    Tooth agenesis, selective, X-linked, 1
    MedGen: C1970757 OMIM: 313500 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-01-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-25)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    EBI GWAS Catalog
    Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables death receptor agonist activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables death receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables tumor necrosis factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hair follicle placode formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in salivary gland cavitation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in trachea gland development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ectodysplasin-A
    Names
    X-linked anhidroitic ectodermal dysplasia protein
    oligodontia 1
    tumor necrosis factor ligand 7C

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009809.2 RefSeqGene

      Range
      5047..428406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005609.2NP_001005609.1  ectodysplasin-A isoform 2

      See identical proteins and their annotated locations for NP_001005609.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (2, also known as EDA-A2) has the same N- and C-termini but is shorter than isoform 1.
      Source sequence(s)
      AF040628, AL158141, BC144051, BQ008767
      Consensus CDS
      CCDS43966.1
      UniProtKB/TrEMBL
      A0A0K0KSD3, A0A0U5J797
      Related
      ENSP00000363681.2, ENST00000374553.6
      Conserved Domains (1) summary
      cd00184
      Location:249381
      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. NM_001005610.4NP_001005610.2  ectodysplasin-A isoform 3

      See identical proteins and their annotated locations for NP_001005610.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (3, also known as EDA-O) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC144049, CA433299, FO393403, U59228
      Consensus CDS
      CCDS35318.2
      UniProtKB/Swiss-Prot
      Q92838
      Related
      ENSP00000434195.1, ENST00000525810.5
    3. NM_001005612.3NP_001005612.2  ectodysplasin-A isoform 5

      See identical proteins and their annotated locations for NP_001005612.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses two alternate in-frame splice sites compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter than isoform 1.
      Source sequence(s)
      AF061189, AL158141, BC144049, BU608133
      Consensus CDS
      CCDS35319.2
      UniProtKB/TrEMBL
      A0A0K0KSD3
      Related
      ENSP00000432585.1, ENST00000524573.5
      Conserved Domains (1) summary
      cd00184
      Location:249378
      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. NM_001005613.4NP_001005613.1  ectodysplasin-A isoform 6

      See identical proteins and their annotated locations for NP_001005613.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (6, also known as EDA-E) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF061193, BC144049, CA433299, FO393403
      Consensus CDS
      CCDS55436.1
      UniProtKB/Swiss-Prot
      Q92838
      Related
      ENSP00000434861.1, ENST00000527388.5
    5. NM_001399.5NP_001390.1  ectodysplasin-A isoform 1

      See identical proteins and their annotated locations for NP_001390.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as EDA-A1).
      Source sequence(s)
      AF040628, AL158141, BC126143, BQ008767
      Consensus CDS
      CCDS14394.1
      UniProtKB/Swiss-Prot
      A0AUZ2, A2A337, B7ZLU2, B7ZLU4, O75910, Q5JS00, Q5JUM7, Q92838, Q9UP77, Q9Y6L0, Q9Y6L1, Q9Y6L2, Q9Y6L3, Q9Y6L4
      UniProtKB/TrEMBL
      A0A0K0KSD3
      Related
      ENSP00000363680.4, ENST00000374552.9
      Conserved Domains (1) summary
      cl00147
      Location:249383
      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_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      69616113..70039472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029336.2XP_016884825.1  ectodysplasin-A isoform X2

      UniProtKB/TrEMBL
      A0A0K0KSD3
      Conserved Domains (1) summary
      cl00147
      Location:249369
      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_006724630.3XP_006724693.1  ectodysplasin-A isoform X1

      See identical proteins and their annotated locations for XP_006724693.1

      UniProtKB/TrEMBL
      A0A0K0KSD3
      Conserved Domains (1) summary
      cd00184
      Location:249380
      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_011530885.3XP_011529187.1  ectodysplasin-A isoform X3

      Conserved Domains (1) summary
      cl00147
      Location:249325
      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_017029337.2XP_016884826.1  ectodysplasin-A isoform X4

    RNA

    1. XR_001755660.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      68049526..68472825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326644.1XP_054182619.1  ectodysplasin-A isoform X2

      UniProtKB/TrEMBL
      A0A0K0KSD3
    2. XM_054326643.1XP_054182618.1  ectodysplasin-A isoform X1

      UniProtKB/TrEMBL
      A0A0K0KSD3
    3. XM_054326645.1XP_054182620.1  ectodysplasin-A isoform X3

    4. XM_054326646.1XP_054182621.1  ectodysplasin-A isoform X4

    RNA

    1. XR_008485459.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001005611.1: Suppressed sequence

      Description
      NM_001005611.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_001005614.1: Suppressed sequence

      Description
      NM_001005614.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.