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    EDAR ectodysplasin A receptor [ Homo sapiens (human) ]

    Gene ID: 10913, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EDARprovided by HGNC
    Official Full Name
    ectodysplasin A receptorprovided by HGNC
    Primary source
    HGNC:HGNC:2895
    See related
    Ensembl:ENSG00000135960 MIM:604095; AllianceGenome:HGNC:2895
    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]
    Expression
    Broad expression in esophagus (RPKM 1.4), lymph node (RPKM 0.8) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EDAR in Genome Data Viewer
    Location:
    2q13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (108894471..108989220, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (109355029..109449802, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (109510927..109605676, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:109334881-109335811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:109335812-109336741 Neighboring gene NANOG hESC enhancer GRCh37_chr2:109343044-109343584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11852 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:109407142-109407316 Neighboring gene ribosomal protein L10 pseudogene 5 Neighboring gene RAN binding protein 2 Neighboring gene MPRA-validated peak3811 silencer Neighboring gene coiled-coil domain containing 138 Neighboring gene MPRA-validated peak3812 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109526299-109526800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109545693-109546192 Neighboring gene ribosomal protein L39 pseudogene 16 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:109573418-109574617 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:109588237-109589436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109589833-109590332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109604149-109604650 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:109636621-109637336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109663535-109664035 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:109685726-109686670 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:109705183-109705390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:109719016-109719749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16353 Neighboring gene SH3RF3 antisense RNA 1 Neighboring gene microRNA 4265 Neighboring gene SH3 domain containing ring finger 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family. Wasif N, et al. Pediatr Dermatol, 2010 Jan-Feb. PMID 20199431
    2. Association between EDAR Polymorphisms and Non-Syndromic Tooth Agenesis in the Chinese Han Population. Chen YT, et al. Chin J Dent Res, 2017. PMID 28808699
    3. Evolutionary significance of selected EDAR variants in Tibetan high-altitude adaptations. Shao J, et al. Sci China Life Sci, 2018 Jan. PMID 28795375
    4. EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects. Peng Q, et al. Hum Genet, 2016 Jan. PMID 26603699
    5. Hair shaft structures in EDAR induced ectodermal dysplasia. Stecksén-Blicks C, et al. BMC Med Genet, 2015 Sep 4. PMID 26336973, Free PMC Article

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia.
      Title: Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia.
    2. Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-kappaB signaling in keratinocyte.
      Title: Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-κB signaling in keratinocyte.
    3. Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
      Title: Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
    4. A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics.
      Title: A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics.
    5. Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
      Title: Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
    6. The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction-diffusion system.
      Title: The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction-diffusion system.
    7. A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
      Title: A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
    8. Association of EDARV370A with breast density and metabolic syndrome in Latinos.
      Title: Association of EDARV370A with breast density and metabolic syndrome in Latinos.
    9. Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
      Title: Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
    10. Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.
      Title: Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
    MedGen: C3888065 OMIM: 129490 GeneReviews: Hypohidrotic Ectodermal Dysplasia
    		not available
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
    MedGen: C3887494 OMIM: 224900 GeneReviews: Hypohidrotic Ectodermal Dysplasia
    		not available
    Hair morphology 1
    MedGen: C2675460 OMIM: 612630 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ94390

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pigmentation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in salivary gland cavitation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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
    ectodysplasin A1 receptor
    hypohidrotic ectodermal dysplasia

    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.

    Genomic

    1. NG_008257.1 RefSeqGene

      Range
      5153..99902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022336.4 → NP_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
      B2R9H2, B4DLC5, D3DX74, E9PC98, Q52LL5, Q9UND9, Q9UNE0
      UniProtKB/TrEMBL
      Q68DL5
      Related
      ENSP00000258443.2, ENST00000258443.7
      Conserved Domains (2) summary
      cd13421
      Location:13 → 148
      TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)
      cl14633
      Location:354 → 428
      DD; Death Domain Superfamily of protein-protein interaction domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      108894471..108989220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712204.2 → XP_006712267.1  tumor necrosis factor receptor superfamily member EDAR isoform X1

      UniProtKB/TrEMBL
      Q68DL5
      Related
      ENSP00000365839.1, ENST00000376651.1
      Conserved Domains (2) summary
      cd13421
      Location:13 → 148
      TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)
      cl14633
      Location:386 → 460
      DD; Death Domain Superfamily of protein-protein interaction domains

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      109355029..109449802 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340250.1 → XP_054196225.1  tumor necrosis factor receptor superfamily member EDAR isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNE0.1 GenPept UniProtKB/Swiss-Prot:Q9UNE0

    Gene LinkOut

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

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