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    EDA ectodysplasin A [ Homo sapiens (human) ]

    Gene ID: 1896, updated on 17-Feb-2018
    Official Symbol
    EDAprovided by HGNC
    Official Full Name
    ectodysplasin Aprovided by HGNC
    Primary source
    HGNC:HGNC:3157
    See related
    Ensembl:ENSG00000158813 MIM:300451; Vega:OTTHUMG00000021764
    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
    Location:
    Xq13.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (69616067..70039472)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (68835911..69259322)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cytochrome c, somatic pseudogene 43 Neighboring gene family with sequence similarity 155 member B Neighboring gene RNA, 5S ribosomal pseudogene 506 Neighboring gene protein kinase, X-linked, 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 (2012-07-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-26)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    NHGRI GWA Catalog
    Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
    NHGRI GWA Catalog
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • TNFR2 non-canonical NF-kB pathway, organism-specific biosystem (from REACTOME)
      TNFR2 non-canonical NF-kB pathway, organism-specific biosystemTumor necrosis factor-alpha (TNFA) exerts a wide range of biological effects through TNF receptor 1 (TNFR1) and TNF receptor 2 (TNFR2). Under normal physiological conditions TNFR2 exhibits more restr...
    • TNFs bind their physiological receptors, organism-specific biosystem (from REACTOME)
      TNFs bind their physiological receptors, organism-specific biosystemMembers of the tumour necrosis factor superfamily (TNFSF) and TNF receptor superfamily (TNFRSF) have crucial roles in both innate and adaptive immunity. These members are implicated in various acquir...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tumor necrosis factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    hair follicle placode formation IEA
    Inferred from Electronic Annotation
    more info
     
    immune response IEA
    Inferred from Electronic Annotation
    more info
     
    odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of NF-kappaB import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    salivary gland cavitation IEA
    Inferred from Electronic Annotation
    more info
     
    trachea gland development IEA
    Inferred from Electronic Annotation
    more info
     
    tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    lipid droplet IDA
    Inferred from Direct Assay
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    ectodysplasin-A
    Names
    X-linked anhidroitic ectodermal dysplasia protein
    oligodontia 1
    tumor necrosis factor ligand 7C

    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
      5001..428406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005609.1NP_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/Swiss-Prot
      Q92838
      UniProtKB/TrEMBL
      A0A0U5J797
      Related
      ENSP00000363681.2, OTTHUMP00000023461, ENST00000374553.6, OTTHUMT00000057047
      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_001005610.3NP_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, OTTHUMP00000232592, ENST00000525810.5, OTTHUMT00000389121
    3. NM_001005612.2NP_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/Swiss-Prot
      Q92838
      Related
      ENSP00000432585.1, OTTHUMP00000232594, ENST00000524573.5, OTTHUMT00000389124
      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_001005613.3NP_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, OTTHUMP00000232593, ENST00000527388.5, OTTHUMT00000389122
    5. NM_001399.4NP_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
      Q92838
      Related
      ENSP00000363680.4, OTTHUMP00000023462, ENST00000374552.8, OTTHUMT00000057048
      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: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      69616067..70039472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      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_006724630.2XP_006724693.1  ectodysplasin-A isoform X1

      See identical proteins and their annotated locations for XP_006724693.1

      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_011530885.2XP_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_017029337.1XP_016884826.1  ectodysplasin-A isoform X4

    RNA

    1. XR_001755660.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      68729282..69152930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.
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