Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    EDAR ectodysplasin A receptor [ Homo sapiens (human) ]

    Gene ID: 10913, updated on 10-Jun-2017
    Official Symbol
    EDARprovided by HGNC
    Official Full Name
    ectodysplasin A receptorprovided by HGNC
    Primary source
    HGNC:HGNC:2895
    See related
    Ensembl:ENSG00000135960 MIM:604095; Vega:OTTHUMG00000130982
    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]
    Orthologs
    Location:
    2q13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (108894471..108989372, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (109510927..109605828, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10 pseudogene 5 Neighboring gene RAN binding protein 2 Neighboring gene coiled-coil domain containing 138 Neighboring gene ribosomal protein L39 pseudogene 16 Neighboring gene uncharacterized LOC105373543 Neighboring gene SH3RF3 antisense RNA 1 Neighboring gene SH3 domain containing ring finger 3

    • 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?

    • 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 ...
    • 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...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • 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

    Homology

    Clone Names

    • FLJ94390

    Gene Ontology Provided by GOA

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

    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
      5001..99902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022336.3NP_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, OTTHUMP00000161607, ENST00000258443.6, OTTHUMT00000253595
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      108894471..108989372 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

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      109515194..109610098 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center