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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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