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

    Gene ID: 171211, updated on 21-Apr-2024

    Summary

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    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; diencephalon roof plate; naris; skin; and urinary system. Human ortholog(s) of this gene implicated in ectodermal dysplasia 11A and ectodermal dysplasia 11B. Orthologous to human EDARADD (EDAR associated death domain). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in thymus adult (RPKM 2.7), spleen adult (RPKM 2.2) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The genetics and development of 'crinkled', a new mutant in the house mouse. FALCONER DS, et al. J Genet, 1951 Jan. PMID 24539712
    2. Amelioration by copper supplementation of mutant gene effects in the crinkled mouse. Hurley LS, et al. Proc Soc Exp Biol Med, 1975 Sep. PMID 1166079
    3. Developmental patterns of copper and zinc concentrations in mouse liver and brain: evidence that the gene crinkled (cr) is associated with an abnormality in copper metabolism. Keen CL, et al. J Inorg Biochem, 1979 Nov. PMID 512661
    4. Superoxide dismutase activity in the crinkled mutant mouse: ameliorative effects of dietary copper supplementation. Keen CL, et al. Proc Soc Exp Biol Med, 1979 Oct. PMID 504225
    5. Site of action of the crinkled (cr) locus in the mouse. Mayer TC, et al. Dev Biol, 1977 Feb. PMID 320066

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mouse models with HED also carry Eda, Edar or Edaradd mutations and have defects that map to the same structures.We report that otitis media, rhinitis and nasopharyngitis occur at high frequency in Eda and Edar mutant mice and explore the pathogenic mechanisms related to glandular function, microbial and immune parameters in these lines
      Title: Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.
    2. crinkled binds EDAR through a homotypic death domain interaction and mediates engagement of the NF-kappaB pathway, possibly by recruiting TRAF2 to the receptor-signaling complex.
      Title: Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice.
    3. level of activation of Edar thus determines cusp number and tooth number during tooth development
      Title: The activation level of the TNF family receptor, Edar, determines cusp number and tooth number during tooth development.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables death receptor binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in canonical NF-kappaB signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within hair follicle development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of non-canonical NF-kappaB signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within trachea gland development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    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)

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    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_133643.4 → NP_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:125 → 192
      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_006516564.4 → XP_006516627.1  ectodysplasin-A receptor-associated adapter protein isoform X1

      UniProtKB/Swiss-Prot
      Q8VHX2
      UniProtKB/TrEMBL
      Q3UFR1
      Conserved Domains (1) summary
      pfam00531
      Location:122 → 190
      Death; Death domain

    RNA

    1. XR_382046.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VHX2.1 GenPept UniProtKB/Swiss-Prot:Q8VHX2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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