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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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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

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

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