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    EDA ectodysplasin A [ Homo sapiens (human) ]

    Gene ID: 1896, updated on 10-Dec-2024

    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
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    Genomic context

    See EDA in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (69616113..70039472)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68049526..68472825)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (13 hits/890 screens)

    Associated conditions

    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

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity PubMed 
    enables death receptor agonist activity PubMed 
    enables death receptor binding PubMed 
    enables death receptor binding PubMed 
    enables protein binding PubMed 
    enables receptor ligand activity  
    enables signaling receptor binding PubMed 
    enables tumor necrosis factor receptor binding  
    Process Evidence Code Pubs
    involved_in animal organ development  
    involved_in canonical Wnt signaling pathway  
    involved_in cell differentiation  
    involved_in cell-matrix adhesion  
    involved_in cytokine-mediated signaling pathway PubMed 
    involved_in cytokine-mediated signaling pathway PubMed 
    involved_in gene expression  
    involved_in hair follicle placode formation  
    involved_in immune response  
    involved_in odontogenesis of dentin-containing tooth PubMed 
    involved_in pigmentation  
    involved_in positive regulation of canonical NF-kappaB signal transduction PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of non-canonical NF-kappaB signal transduction  
    involved_in regulation of non-canonical NF-kappaB signal transduction PubMed 
    involved_in salivary gland cavitation  
    involved_in trachea gland development  
    Component Evidence Code Pubs
    located_in apical part of cell  
    part_of collagen trimer  
    located_in cytoskeleton PubMed 
    located_in endoplasmic reticulum membrane  
    is_active_in extracellular space  
    located_in intracellular membrane-bounded organelle  
    located_in lipid droplet  
    located_in membrane PubMed 
    located_in plasma membrane  

    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_001005609.2 → NP_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: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 ...
    2. NM_001005610.4 → NP_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_001005612.3 → NP_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: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 ...
    4. NM_001005613.4 → NP_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_001399.5 → NP_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: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_000001405.40-RS_2024_08

    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_017029336.2 → XP_016884825.1  ectodysplasin-A isoform X2

      UniProtKB/TrEMBL
      A0A0K0KSD3
      Conserved Domains (1) summary
      cl00147
      Location:249 → 369
      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_006724630.3 → XP_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: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 ...
    3. XM_011530885.3 → XP_011529187.1  ectodysplasin-A isoform X3

      Conserved Domains (1) summary
      cl00147
      Location:249 → 325
      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_017029337.2 → XP_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_054326644.1 → XP_054182619.1  ectodysplasin-A isoform X2

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

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

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

    RNA

    1. XR_008485459.1 RNA Sequence

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