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    Edar ectodysplasin-A receptor [ Mus musculus (house mouse) ]

    Gene ID: 13608, updated on 9-Dec-2024

    Summary

    Official Symbol
    Edarprovided by MGI
    Official Full Name
    ectodysplasin-A receptorprovided by MGI
    Primary source
    MGI:MGI:1343498
    See related
    Ensembl:ENSMUSG00000003227 AllianceGenome:MGI:1343498
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    dl; ED3; ED5; ED1R; EDA3; EDA-A1R
    Summary
    Enables signaling receptor activity. Involved in cytokine-mediated signaling pathway and positive regulation of canonical NF-kappaB signal transduction. Acts upstream of or within several processes, including hair follicle development; positive regulation of non-canonical NF-kappaB signal transduction; and salivary gland cavitation. Located in apical part of cell and plasma membrane. Is expressed in several structures, including embryo ectoderm; integumental system; male accessory gland; sensory organ; and tooth. Used to study hypohidrotic ectodermal dysplasia. Human ortholog(s) of this gene implicated in ectodermal dysplasia 10A and ectodermal dysplasia 10B. Orthologous to human EDAR (ectodysplasin A receptor). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in genital fat pad adult (RPKM 2.0), limb E14.5 (RPKM 0.8) and 19 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Edar in Genome Data Viewer
    Location:
    10 B4; 10 29.37 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (58436602..58511518, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (58600780..58675696, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2936 Neighboring gene RAN binding protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E10608 Neighboring gene coiled-coil domain containing 138 Neighboring gene STARR-positive B cell enhancer ABC_E10609 Neighboring gene STARR-seq mESC enhancer starr_26758 Neighboring gene predicted gene, 18042 Neighboring gene predicted gene, 36158 Neighboring gene expressed sequence BB019430

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in apoptotic process  
    involved_in cell differentiation  
    involved_in cytokine-mediated signaling pathway PubMed 
    involved_in cytokine-mediated signaling pathway  
    acts_upstream_of_or_within hair follicle development PubMed 
    acts_upstream_of_or_within hair follicle development PubMed 
    acts_upstream_of_or_within odontogenesis of dentin-containing tooth PubMed 
    acts_upstream_of_or_within pigmentation PubMed 
    involved_in positive regulation of JNK cascade  
    involved_in positive regulation of JNK cascade  
    involved_in positive regulation of canonical NF-kappaB signal transduction  
    involved_in positive regulation of canonical NF-kappaB signal transduction PubMed 
    acts_upstream_of_or_within positive regulation of gene expression PubMed 
    acts_upstream_of_or_within positive regulation of non-canonical NF-kappaB signal transduction PubMed 
    acts_upstream_of_or_within salivary gland cavitation PubMed 
    Component Evidence Code Pubs
    located_in apical part of cell PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 

    General protein information

    Preferred Names
    tumor necrosis factor receptor superfamily member EDAR
    Names
    anhidrotic ectodysplasin receptor 1
    downless
    ectodermal dysplasia receptor

    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.

    mRNA and Protein(s)

    1. NM_001428455.1NP_001415384.1  tumor necrosis factor receptor superfamily member EDAR isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC158593, AC166081
      UniProtKB/TrEMBL
      Q6NV51
    2. NM_010100.4NP_034230.1  tumor necrosis factor receptor superfamily member EDAR isoform 1 precursor

      See identical proteins and their annotated locations for NP_034230.1

      Status: VALIDATED

      Source sequence(s)
      AC158593, AC166081
      Consensus CDS
      CCDS23862.1
      UniProtKB/Swiss-Prot
      Q9DC43, Q9R187
      UniProtKB/TrEMBL
      Q6NV51
      Related
      ENSMUSP00000003312.5, ENSMUST00000003312.5
      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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      58436602..58511518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006513204.5XP_006513267.1  tumor necrosis factor receptor superfamily member EDAR isoform X1

      UniProtKB/TrEMBL
      Q6NV51
      Conserved Domains (3) summary
      cd13421
      Location:35170
      TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)
      pfam04277
      Location:212257
      OAD_gamma; Oxaloacetate decarboxylase, gamma chain
      cl14633
      Location:378452
      DD; Death Domain Superfamily of protein-protein interaction domains
    2. XM_006513205.5XP_006513268.1  tumor necrosis factor receptor superfamily member EDAR isoform X2

      UniProtKB/TrEMBL
      Q6NV51
      Conserved Domains (2) summary
      cd13421
      Location:35170
      TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)
      cl14633
      Location:377451
      DD; Death Domain Superfamily of protein-protein interaction domains
    3. XM_006513206.5XP_006513269.1  tumor necrosis factor receptor superfamily member EDAR isoform X3

      UniProtKB/TrEMBL
      Q6NV51
      Conserved Domains (2) summary
      cd13421
      Location:35170
      TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)
      cl14633
      Location:376450
      DD; Death Domain Superfamily of protein-protein interaction domains
    4. XM_030244869.1XP_030100729.1  tumor necrosis factor receptor superfamily member EDAR isoform X4

      Conserved Domains (2) summary
      cd13421
      Location:1128
      TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)
      cl14633
      Location:334408
      DD; Death Domain Superfamily of protein-protein interaction domains
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