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    EDAR ectodysplasin A receptor [ Homo sapiens (human) ]

    Gene ID: 10913, updated on 9-Jan-2022

    Summary

    Official Symbol
    EDARprovided by HGNC
    Official Full Name
    ectodysplasin A receptorprovided by HGNC
    Primary source
    HGNC:HGNC:2895
    See related
    Ensembl:ENSG00000135960 MIM:604095
    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
    DL; ED3; ED5; ED1R; EDA3; HRM1; EDA1R; ECTD10A; ECTD10B; EDA-A1R
    Summary
    This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in esophagus (RPKM 1.4), lymph node (RPKM 0.8) and 18 other tissues See more
    Orthologs
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    Genomic context

    See EDAR in Genome Data Viewer
    Location:
    2q13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (108894471..108989256, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (109510927..109605676, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RAN binding protein 2 Neighboring gene coiled-coil domain containing 138 Neighboring gene ribosomal protein L39 pseudogene 16 Neighboring gene SH3RF3 antisense RNA 1 Neighboring gene SH3 domain containing ring finger 3 Neighboring gene microRNA 4265

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ94390

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of NIK/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in salivary gland cavitation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tumor necrosis factor receptor superfamily member EDAR
    Names
    EDA-A1 receptor
    anhidrotic ectodysplasin receptor 1
    downless homolog
    downless, mouse, homolog of
    ectodermal dysplasia receptor
    ectodysplasin 1, anhidrotic receptor
    hypohidrotic ectodermal dysplasia

    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_008257.1 RefSeqGene

      Range
      5153..99902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022336.4NP_071731.1  tumor necrosis factor receptor superfamily member EDAR precursor

      See identical proteins and their annotated locations for NP_071731.1

      Status: REVIEWED

      Source sequence(s)
      AC073415, AC092160, AC133784, AF130988, AI017384
      Consensus CDS
      CCDS2081.1
      UniProtKB/Swiss-Prot
      Q9UNE0
      Related
      ENSP00000258443.2, ENST00000258443.7
      Conserved Domains (2) summary
      cd13421
      Location:13148
      TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)
      cl14633
      Location:354428
      DD; Death Domain Superfamily of protein-protein interaction domains

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      108894471..108989256 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712204.1XP_006712267.1  tumor necrosis factor receptor superfamily member EDAR isoform X3

      UniProtKB/Swiss-Prot
      Q9UNE0
      Related
      ENSP00000365839.1, ENST00000376651.1
      Conserved Domains (2) summary
      cd13421
      Location:13148
      TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)
      cl14633
      Location:386460
      DD; Death Domain Superfamily of protein-protein interaction domains
    2. XM_011510502.2XP_011508804.2  tumor necrosis factor receptor superfamily member EDAR isoform X1

    3. XM_011510503.2XP_011508805.2  tumor necrosis factor receptor superfamily member EDAR isoform X2

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