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    Edaradd EDAR associated via death domain [ Mus musculus (house mouse) ]

    Gene ID: 171211, updated on 9-Dec-2024

    Summary

    Official Symbol
    Edaraddprovided by MGI
    Official Full Name
    EDAR associated via death domainprovided by MGI
    Primary source
    MGI:MGI:1931001
    See related
    Ensembl:ENSMUSG00000095105 AllianceGenome:MGI:1931001
    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
    cr; A630043P06; 1810032E07Rik; 5830469M23Rik
    Summary
    Acts upstream of or within hair follicle development; odontogenesis of dentin-containing tooth; and trachea gland development. Is expressed in several structures, including alimentary system; metanephros; naris; skin; and ureter. Human ortholog(s) of this gene implicated in ectodermal dysplasia 11A and ectodermal dysplasia 11B. Orthologous to human EDARADD (EDAR associated via death domain). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in thymus adult (RPKM 2.7), spleen adult (RPKM 2.2) and 10 other tissues See more
    Orthologs
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    Genomic context

    See Edaradd in Genome Data Viewer
    Location:
    13 A1; 13 4.77 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (12486090..12535413, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (12471209..12520535, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene HEAT repeat containing 1 Neighboring gene predicted gene 5928 Neighboring gene lectin, galactose binding, soluble 8 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:12552850-12553003 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:12553416-12553525 Neighboring gene STARR-positive B cell enhancer ABC_E5367 Neighboring gene VISTA enhancer mm1376 Neighboring gene predicted gene, 30239 Neighboring gene STARR-positive B cell enhancer ABC_E4051 Neighboring gene STARR-positive B cell enhancer ABC_E1455 Neighboring gene endoplasmic reticulum oxidoreductase 1 beta Neighboring gene predicted gene, 25483

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (2) 
    • Chemically induced (other) (1) 
    • Endonuclease-mediated (2) 
    • Spontaneous (2) 
    • Targeted (1) 

    Pathways from PubChem

    General protein information

    Preferred Names
    ectodysplasin-A receptor-associated adapter protein
    Names
    EDAR (ectodysplasin-A receptor)-associated death domain
    EDAR-associated death domain protein
    crinkled

    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_133643.4NP_598398.3  ectodysplasin-A receptor-associated adapter protein isoform 1

      See identical proteins and their annotated locations for NP_598398.3

      Status: VALIDATED

      Source sequence(s)
      AC154221, AK041545, BC030683, BY766445, CT954220
      Consensus CDS
      CCDS36593.1
      UniProtKB/Swiss-Prot
      Q8VHX2
      UniProtKB/TrEMBL
      Q3UFR1, Q5D0F1
      Related
      ENSMUSP00000136158.2, ENSMUST00000179308.3
      Conserved Domains (1) summary
      pfam00531
      Location:125192
      Death; Death domain

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      12486090..12535413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516564.4XP_006516627.1  ectodysplasin-A receptor-associated adapter protein isoform X1

      UniProtKB/Swiss-Prot
      Q8VHX2
      UniProtKB/TrEMBL
      Q3UFR1
      Conserved Domains (1) summary
      pfam00531
      Location:122190
      Death; Death domain

    RNA

    1. XR_382046.4 RNA Sequence