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Aliases for EDAR Gene

Aliases for EDAR Gene

  • Ectodysplasin A Receptor 2 3
  • DL 3 4 6
  • Ectodysplasin 1, Anhidrotic Receptor 2 3
  • Anhidrotic Ectodysplasin Receptor 1 3 4
  • Ectodermal Dysplasia Receptor 3 4
  • Ectodysplasin-A Receptor 3 4
  • Downless Homolog 3 4
  • EDA-A1 Receptor 3 4
  • ECTD10A 3 6
  • ECTD10B 3 6
  • EDA3 3 6
  • HRM1 3 6
  • ED3 3 6
  • Tumor Necrosis Factor Receptor Superfamily Member EDAR 3
  • Downless, Mouse, Homolog Of 3
  • EDA-A1R 3
  • EDA1R 3
  • ED1R 3
  • ED5 3

External Ids for EDAR Gene

Previous HGNC Symbols for EDAR Gene

  • ED3
  • DL

Previous GeneCards Identifiers for EDAR Gene

  • GC02M107416
  • GC02M107989
  • GC02M109115
  • GC02M109132
  • GC02M108969
  • GC02M109510
  • GC02M103109

Summaries for EDAR Gene

Entrez Gene Summary for EDAR Gene

  • 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]

GeneCards Summary for EDAR Gene

EDAR (Ectodysplasin A Receptor) is a Protein Coding gene. Diseases associated with EDAR include ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive. Among its related pathways are Integrated Breast Cancer Pathway and TNF Signaling. GO annotations related to this gene include receptor activity and transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for EDAR Gene

  • Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death

Gene Wiki entry for EDAR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDAR Gene

Genomics for EDAR Gene

Regulatory Elements for EDAR Gene

Genomic Location for EDAR Gene

108,894,471 bp from pter
108,989,372 bp from pter
94,902 bases
Minus strand

Genomic View for EDAR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EDAR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDAR Gene

Proteins for EDAR Gene

  • Protein details for EDAR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tumor necrosis factor receptor superfamily member EDAR
    Protein Accession:
    Secondary Accessions:
    • B2R9H2
    • B4DLC5
    • D3DX74
    • E9PC98
    • Q52LL5
    • Q9UND9

    Protein attributes for EDAR Gene

    448 amino acids
    Molecular mass:
    48582 Da
    Quaternary structure:
    • Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and NIK

    Alternative splice isoforms for EDAR Gene


neXtProt entry for EDAR Gene

Proteomics data for EDAR Gene at MOPED

Post-translational modifications for EDAR Gene

  • Glycosylation at Asn38
  • Modification sites at PhosphoSitePlus

Other Protein References for EDAR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EDAR Gene

Domains for EDAR Gene

Gene Families for EDAR Gene

  • TNFRSF :Tumor necrosis factor receptor superfamily

Protein Domains for EDAR Gene

Suggested Antigen Peptide Sequences for EDAR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9UNE0
  • Contains 1 death domain.
  • Contains 3 TNFR-Cys repeats.
genes like me logo Genes that share domains with EDAR: view

Function for EDAR Gene

Molecular function for EDAR Gene

UniProtKB/Swiss-Prot Function: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death

Gene Ontology (GO) - Molecular Function for EDAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IDA 11039935
GO:0004888 transmembrane signaling receptor activity NAS 10431241
GO:0005515 protein binding IPI 11039935
genes like me logo Genes that share ontologies with EDAR: view
genes like me logo Genes that share phenotypes with EDAR: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for EDAR Gene

Localization for EDAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDAR Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for EDAR Gene COMPARTMENTS Subcellular localization image for EDAR gene
Compartment Confidence
extracellular 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EDAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane NAS 10431241
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with EDAR: view

Pathways for EDAR Gene

genes like me logo Genes that share pathways with EDAR: view

Pathways by source for EDAR Gene

3 Sino Biological pathways for EDAR Gene
1 Qiagen pathway for EDAR Gene
1 BioSystems pathway for EDAR Gene

Gene Ontology (GO) - Biological Process for EDAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IEA --
GO:0008544 epidermis development TAS 12270937
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with EDAR: view

Compounds for EDAR Gene

(1) IUPHAR Ligand for EDAR Gene

Ligand Type Action Affinity Pubmed IDs
ectodysplasin A1 None None
genes like me logo Genes that share compounds with EDAR: view

Transcripts for EDAR Gene

mRNA/cDNA for EDAR Gene

(5) REFSEQ mRNAs :
(12) Selected AceView cDNA sequences:
(6) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EDAR Gene

Ectodysplasin A receptor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EDAR Gene

No ASD Table

Relevant External Links for EDAR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EDAR Gene

mRNA expression in normal human tissues for EDAR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDAR Gene

This gene is overexpressed in Esophagus - Mucosa (12.7), Bladder (6.7), Skin - Sun Exposed (Lower leg) (5.7), Vagina (5.0), and Skin - Not Sun Exposed (Suprapubic) (4.5).

SOURCE GeneReport for Unigene cluster for EDAR Gene Hs.171971

mRNA Expression by UniProt/SwissProt for EDAR Gene

Tissue specificity: Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines
genes like me logo Genes that share expressions with EDAR: view

No data available for Protein expression for EDAR Gene

Orthologs for EDAR Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDAR Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EDAR 35
  • 99.63 (n)
  • 100 (a)
  • 93 (a)
(Bos Taurus)
Mammalia EDAR 35
  • 84.13 (n)
  • 86.5 (a)
  • 85 (a)
(Canis familiaris)
Mammalia EDAR 35
  • 88.67 (n)
  • 93.06 (a)
  • 93 (a)
(Mus musculus)
Mammalia Edar 35
  • 86.46 (n)
  • 91.52 (a)
Edar 16
Edar 36
  • 92 (a)
(Monodelphis domestica)
Mammalia EDAR 36
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia EDAR 36
  • 65 (a)
(Rattus norvegicus)
Mammalia Edar 35
  • 85.49 (n)
  • 91.29 (a)
(Gallus gallus)
Aves EDAR 35
  • 77.15 (n)
  • 85.88 (a)
  • 82 (a)
(Anolis carolinensis)
Reptilia EDAR 36
  • 80 (a)
African clawed frog
(Xenopus laevis)
Amphibia edar-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia edar 35
  • 70.66 (n)
  • 76.47 (a)
(Danio rerio)
Actinopterygii edar 35
  • 69.76 (n)
  • 69.79 (a)
edar 36
  • 66 (a)
Species with no ortholog for EDAR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDAR Gene

Gene Tree for EDAR (if available)
Gene Tree for EDAR (if available)

Paralogs for EDAR Gene

Selected SIMAP similar genes for EDAR Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EDAR: view

No data available for Paralogs for EDAR Gene

Variants for EDAR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for EDAR Gene

Genetic variation in EDAR is associated with variations in head hair thickness and defines the hair morphology locus 1 (HRM1) [MIM:612630]. Besides skin color and facial features, hair morphology is one of the most distinctive traits among human populations, and classical classification of human population is based on such visible traits

Sequence variations from dbSNP and Humsavar for EDAR Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs45478 -- 108,985,620(-) GGAGG(C/T)CCTGC intron-variant
rs45479 -- 108,985,509(-) TTTCC(A/G)AGAAA intron-variant
rs70664 -- 108,921,637(+) AGCTC(C/T)GACGT intron-variant
rs87545 -- 108,921,632(+) TTTCT(A/G)GCTCC intron-variant
rs103855 -- 108,916,261(+) CAGCC(A/G)TGGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EDAR Gene

Variant ID Type Subtype PubMed ID
nsv874773 CNV Gain 21882294
nsv508854 CNV Insertion 20534489
esv2720507 CNV Deletion 23290073
esv2132532 CNV Deletion 18987734
esv2657394 CNV Deletion 23128226
nsv516437 CNV Loss 19592680

Relevant External Links for EDAR Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for EDAR Gene

(3) OMIM Diseases for EDAR Gene (604095)


  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A) [MIM:129490]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. {ECO:0000269 PubMed:10431241, ECO:0000269 PubMed:18231121}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900]: A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. {ECO:0000269 PubMed:10431241, ECO:0000269 PubMed:15373768, ECO:0000269 PubMed:16029325, ECO:0000269 PubMed:16435307, ECO:0000269 PubMed:18231121, ECO:0000269 PubMed:19438931, ECO:0000269 PubMed:20979233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for EDAR Gene

(5) Novoseek inferred disease relationships for EDAR Gene

Disease -log(P) Hits PubMed IDs
ectodermal dysplasia, hypohidrotic 96.4 20
ectodermal dysplasia 91.4 16
necrosis 40.6 11
tumors 12.4 11
immunodeficiency 0 1

Relevant External Links for EDAR

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with EDAR: view

Publications for EDAR Gene

  1. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. (PMID: 10431241) Monreal A.W. … Zonana J. (Nat. Genet. 1999) 2 3 4 23
  2. The ectodermal dysplasia receptor activates the nuclear factor- kappaB, JNK, and cell death pathways and binds to ectodysplasin A. (PMID: 11035039) Kumar A. … Chaudhary P.M. (J. Biol. Chem. 2001) 3 4 23
  3. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. (PMID: 16435307) Chassaing N. … Vincent M.-C. (Hum. Mutat. 2006) 3 4 23
  4. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. (PMID: 18065779) Fujimoto A. … Tokunaga K. (Hum. Mol. Genet. 2008) 3 4 23
  5. Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (PMID: 18231121) van der Hout A.H. … van Essen A.J. (Eur. J. Hum. Genet. 2008) 3 4 23

Products for EDAR Gene

Sources for EDAR Gene

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