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Aliases for EDAR Gene

Aliases for EDAR Gene

  • Ectodysplasin A Receptor 2 3 5
  • 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
  • DL 3 4
  • Downless, Mouse, Homolog Of 3
  • ECTD10A 3
  • ECTD10B 3
  • EDA-A1R 3
  • EDA1R 3
  • ED1R 3
  • EDA3 3
  • HRM1 3
  • ED5 3
  • ED3 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 Immune System and Interleukin-3, 5 and GM-CSF 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

Promoters for EDAR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EDAR on UCSC Golden Path with GeneCards custom track

Genomic Location for EDAR Gene

Chromosome:
2
Start:
108,894,471 bp from pter
End:
108,989,372 bp from pter
Size:
94,902 bases
Orientation:
Minus strand

Genomic View for EDAR Gene

Genes around EDAR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDAR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q9UNE0-EDAR_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member EDAR
    Protein Accession:
    Q9UNE0
    Secondary Accessions:
    • B2R9H2
    • B4DLC5
    • D3DX74
    • E9PC98
    • Q52LL5
    • Q9UND9

    Protein attributes for EDAR Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for EDAR Gene

Proteomics data for EDAR Gene at MOPED

Post-translational modifications for EDAR Gene

  • Glycosylation at Asn 38
  • Modification sites at PhosphoSitePlus

Other Protein References for EDAR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EDAR Gene

Domains & Families for EDAR Gene

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

UniProtKB/Swiss-Prot:

EDAR_HUMAN :
  • Contains 1 death domain.
  • Contains 3 TNFR-Cys repeats.
Domain:
  • Contains 1 death domain.
Similarity:
  • 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:0005515 protein binding IEA,IPI 11039935
genes like me logo Genes that share ontologies with EDAR: view
genes like me logo Genes that share phenotypes with EDAR: view

Human Phenotype Ontology for EDAR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EDAR Gene

MGI Knock Outs for EDAR:
  • Edar tm1b(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for EDAR

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for EDAR Gene COMPARTMENTS Subcellular localization image for EDAR gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 1
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EDAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with EDAR: view

Pathways & Interactions for EDAR Gene

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

Pathways by source for EDAR Gene

SIGNOR curated interactions for EDAR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EDAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IEA --
GO:0010628 positive regulation of gene expression IEA --
GO:0030154 cell differentiation IEA --
GO:0042346 positive regulation of NF-kappaB import into nucleus IEA --
genes like me logo Genes that share ontologies with EDAR: view

Drugs & Compounds for EDAR Gene

(1) Drugs for EDAR Gene - From: IUPHAR and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ectodysplasin A1 Pharma 0
genes like me logo Genes that share compounds with EDAR: view

Transcripts for EDAR Gene

mRNA/cDNA for EDAR Gene

(5) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(12) Selected AceView cDNA 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
EDAR
ECgene alternative splicing isoforms for
EDAR

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 (x12.7), Bladder (x6.7), Skin - Sun Exposed (Lower leg) (x5.7), Vagina (x5.0), and Skin - Not Sun Exposed (Suprapubic) (x4.5).

SOURCE GeneReport for Unigene cluster for EDAR Gene Hs.171971

mRNA Expression by UniProt/SwissProt for EDAR Gene

Q9UNE0-EDAR_HUMAN
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 expression patterns with EDAR: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia EDAR 35
  • 99.63 (n)
  • 100 (a)
EDAR 36
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EDAR 36
  • 85 (a)
OneToOne
EDAR 35
  • 84.13 (n)
  • 86.5 (a)
dog
(Canis familiaris)
Mammalia EDAR 35
  • 88.67 (n)
  • 93.06 (a)
EDAR 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Edar 16
Edar 36
  • 92 (a)
OneToOne
Edar 35
  • 86.46 (n)
  • 91.52 (a)
oppossum
(Monodelphis domestica)
Mammalia EDAR 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDAR 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Edar 35
  • 85.49 (n)
  • 91.29 (a)
chicken
(Gallus gallus)
Aves EDAR 36
  • 82 (a)
OneToOne
EDAR 35
  • 77.15 (n)
  • 85.88 (a)
lizard
(Anolis carolinensis)
Reptilia EDAR 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia edar-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia edar 35
  • 70.66 (n)
  • 76.47 (a)
zebrafish
(Danio rerio)
Actinopterygii edar 36
  • 66 (a)
OneToOne
edar 35
  • 69.76 (n)
  • 69.79 (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

ENSEMBL:
Gene Tree for EDAR (if available)
TreeFam:
Gene Tree for EDAR (if available)

Paralogs for EDAR Gene

(1) 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

Q9UNE0-EDAR_HUMAN
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
VAR_013448 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
VAR_013449 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
VAR_013450 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A)
VAR_013450 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
rs3827760 - 108,897,145(-) GGCTG(C/T)TGTGA reference, missense

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

Variation tolerance for EDAR Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.58; 88.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDAR Gene

HapMap Linkage Disequilibrium report
EDAR
Human Gene Mutation Database (HGMD)
EDAR

Disorders for EDAR Gene

MalaCards: The human disease database

(14) MalaCards diseases for EDAR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant
  • hypohidrotic ectodermal dysplasia autosomal dominant
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
  • hypohidrotic ectodermal dysplasia
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
  • ectodermal dysplasia anhidrotic
ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
  • ectodermal dysplasia 11a, hypohidrotic/hair/nail type, autosomal dominant
hypohidrotic ectodermal dysplasia autosomal recessive
  • anhidrotic ectodermal dysplasia, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search EDAR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EDAR_HUMAN
  • 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.

Relevant External Links for EDAR

Genetic Association Database (GAD)
EDAR
Human Genome Epidemiology (HuGE) Navigator
EDAR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDAR
genes like me logo Genes that share disorders with EDAR: view

No data available for Genatlas for EDAR Gene

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 67
  2. A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. (PMID: 20033817) Moya-Quiles M.R. … GuillAcn-Navarro E. (Arch. Dermatol. Res. 2010) 3 23
  3. A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family. (PMID: 20199431) Wasif N. … Ahmad W. (Pediatr Dermatol 2010) 3 23
  4. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. (PMID: 19438931) Shimomura Y. … Christiano A.M. (Clin. Genet. 2009) 3 23
  5. Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. (PMID: 19551394) Azeem Z. … Ahmad W. (Arch. Dermatol. Res. 2009) 3 23

Products for EDAR Gene

Sources for EDAR Gene

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