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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EDAR Gene

protein-coding   GIFtS: 60
GCID: GC02M109510

Ectodysplasin A Receptor

(Previous names: ectodysplasin 1, anhidrotic receptor)
(Previous symbols: ED3, DL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ectodysplasin A Receptor1 2     HRM12 5
DL1 2 3 5     ECTD10A2
ED31 2 5     ECTD10B2
Ectodysplasin 1, Anhidrotic Receptor1 2     ED1R2
Anhidrotic Ectodysplasin Receptor 12 3     ED52
Downless Homolog2 3     EDA-A1R2
Ectodermal Dysplasia Receptor2 3     EDA1R2
Ectodysplasin-A Receptor2 3     Downless, Mouse, Homolog Of2
EDA-A1 Receptor2 3     Tumor Necrosis Factor Receptor Superfamily Member EDAR2
EDA32 5     

External Ids:    HGNC: 28951   Entrez Gene: 109132   Ensembl: ENSG000001359607   OMIM: 6040955   UniProtKB: Q9UNE03   

Export aliases for EDAR gene to outside databases

Previous GC identifers: GC02M107416 GC02M107989 GC02M109115 GC02M109132 GC02M108969 GC02M103109


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hypohidrotic ectodermal dysplasia, autosomal, and hair morphology 1, hair thickness, and among its related super-pathways are TNF Signaling and STAT3 Pathway. GO annotations related to this gene include transmembrane signaling receptor activity and receptor activity.

UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0
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 Wiki entry for EDAR Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022171.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EDAR gene promoter:
         TBP   NF-1   AP-1   TFIID   HTF   ATF-2   FOXD3   c-Jun   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEDAR promoter sequence
   Search SABiosciences Chromatin IP Primers for EDAR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EDAR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q12.3   HGNC cytogenetic band: 2q13

EDAR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EDAR gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M109510:  view genomic region     (about GC identifiers)

Start:
109,510,927 bp from pter      End:
109,605,828 bp from pter
Size:
94,902 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0 (See protein sequence)
Recommended Name: Tumor necrosis factor receptor superfamily member EDAR precursor  
Size: 448 amino acids; 48582 Da
Subunit: Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and NIK
Subcellular location: Membrane; Single-pass type I membrane protein (Probable)
Developmental stage: Found in craniofacial tissues from embryonic day 42-53. Expressed in fetal skin 11 and 15
weeks after gestation
Secondary accessions: D3DX74 Q52LL5 Q9UND9

Explore the universe of human proteins at neXtProt for EDAR: NX_Q9UNE0

Explore proteomics data for EDAR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UNE0

  • EDAR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EDAR Protein Expression
    REFSEQ proteins: NP_071731.1  
    ENSEMBL proteins: 
     ENSP00000386371   ENSP00000258443   ENSP00000365839  

    Human Recombinant Protein Products for EDAR: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for EDAR
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for EDAR
    OriGene Protein Over-expression Lysate for EDAR
    OriGene MassSpec for EDAR 
    OriGene Custom Protein Services for EDAR
    GenScript Custom Purified and Recombinant Proteins Services for EDAR
    Novus Biologicals EDAR Protein
    Novus Biologicals EDAR Lysate
    Sino Biological Recombinant Protein for EDAR
    Sino Biological Cell Lysate for EDAR 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EDAR 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane NAS10431241
    GO:0045177apical part of cell IEA--

    EDAR for ontologies           About GeneDecksing



    EDAR Antibody Products: 
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    Novus Biologicals EDAR Antibodies
    Abcam antibodies for EDAR
    Cloud-Clone Corp. Antibodies for EDAR 
    ThermoFisher Antibodies for EDAR
    LSBio Antibodies in human, mouse, rat for EDAR 

    Assay Products for EDAR: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EDAR 
    Cloud-Clone Corp. CLIAs for EDAR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TNFRSF: Tumor necrosis factor receptor superfamily

    IUPHAR Guide to PHARMACOLOGY protein family classification: ectodysplasin 1, anhidrotic receptor 
    Tumour necrosis factor (TNF) receptor family

    2 InterPro protein domains:
     IPR011029 DEATH-like_dom
     IPR000488 Death_domain

    Graphical View of Domain Structure for InterPro Entry Q9UNE0

    ProtoNet protein and cluster: Q9UNE0

    2 Blocks protein domains:
    IPB000488 Death domain
    IPB001368 TNFR/CD27/30/40/95 cysteine-rich region


    UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0
    Similarity: Contains 1 death domain
    Similarity: Contains 3 TNFR-Cys repeats


    EDAR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EDAR_HUMAN, Q9UNE0
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IDA11039935
    GO:0004888transmembrane signaling receptor activity NAS10431241
    GO:0005515protein binding IPI11039935
         
    EDAR for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for EDAR:
     Decreased Wnt reporter activit  Decreased cell number, increas  Decreased homologous recombina  Decreased viability of wild-ty 
     G2 arrest 

         9 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Edar):
     adipose tissue  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     integument  limbs/digits/tail  mortality/aging  pigmentation 

    EDAR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EDAR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EDAR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EDAR 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EDAR 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EDAR
    8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate EDAR (see all 40):
    hsa-miR-579 hsa-miR-15a hsa-miR-128 hsa-miR-374a hsa-miR-3167 hsa-miR-3916 hsa-miR-10b* hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidEDAR 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EDAR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EDAR

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for EDAR
    Sirion Biotech Customized adenovirus for overexpression of EDAR

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for EDAR (see all 7)
    OriGene ORF clones in mouse, rat for EDAR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EDAR (NM_022336)
    Sino Biological Human cDNA Clone for EDAR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDAR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDAR
    Sirion Biotech Customized lentivirus for stable overexpression of EDAR 
                         Customized lentivirus expression plasmids for stable overexpression of EDAR 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for EDAR
    Search LifeMap BioReagents cell lines for EDAR
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDAR


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EDAR About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TNF Signaling
    TNF Signaling0.50
    TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions0.49
    Death Receptor Signaling0.50
    NF-kB (NFkB) Pathway0.46
    2PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43
    3TRAF Pathway
    TNF Superfamily Pathway0.42
    4Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for EDAR
        TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for EDAR
        TNF Superfamily Pathway

    1 BioSystems Pathway for EDAR
        Integrated Breast Cancer Pathway

    3 Sino Biological Pathways for EDAR 
        TNF Signaling
    Death Receptor Signaling
    NF-kB (NFkB) Pathway


    1         Kegg Pathway  (Kegg details for EDAR):
        Cytokine-cytokine receptor interaction


    EDAR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EDAR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for EDAR (Q9UNE03 ENSP000002584434) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EDARADDQ8WWZ33, ENSP000003350764I2D: score=2 STRING: ENSP00000335076
    EDAQ928383, ENSP000003636804I2D: score=3 STRING: ENSP00000363680
    TRAF1Q130773, ENSP000003629944I2D: score=1 STRING: ENSP00000362994
    TRAF2Q129333, ENSP000002476684I2D: score=1 STRING: ENSP00000247668
    TRAF3Q131143, ENSP000003324684I2D: score=2 STRING: ENSP00000332468
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001942hair follicle development IEA--
    GO:0006915apoptotic process IEA--
    GO:0007165signal transduction ----
    GO:0008544epidermis development TAS12270937
    GO:0030154cell differentiation IEA--

    EDAR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EDAR

    1 IUPHAR Ligand for EDAR (ectodysplasin 1, anhidrotic receptor)    About this table 
    LigandTypeActionAffinityPubmed IDs
    ectodysplasin A1
    NoneNone11039935

    Search CenterWatch for drugs/clinical trials and news about EDAR

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EDAR gene: 
    NM_022336.3  

    Unigene Cluster for EDAR:

    Ectodysplasin A receptor
    Hs.171971  [show with all ESTs]
    Unigene Representative Sequence: CR749352
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409271(uc010fjn.3) ENST00000258443(uc002teq.4) ENST00000376651(uc010yws.2)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EDAR
    8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate EDAR (see all 40):
    hsa-miR-579 hsa-miR-15a hsa-miR-128 hsa-miR-374a hsa-miR-3167 hsa-miR-3916 hsa-miR-10b* hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidEDAR 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EDAR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EDAR
    Clone
    Products:
         
    OriGene clones in human, mouse for EDAR (see all 7)
    OriGene ORF clones in mouse, rat for EDAR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EDAR (NM_022336)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDAR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDAR
    Sirion Biotech Customized lentivirus for stable overexpression of EDAR 
                         Customized lentivirus expression plasmids for stable overexpression of EDAR 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EDAR
    OriGene qSTAR qPCR primer pairs in human, mouse for EDAR
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EDAR
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EDAR
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EDAR

    Additional mRNA sequence: 

    AF130988.1 AK296936.1 AK313781.1 BC093870.1 BC093872.1 CR749352.1 

    1 DOTS entry:

    DT.402912 

    12 AceView cDNA sequences:

    W73914 AI017384 AI888259 AA478934 W77977 AW751561 AA588273 AI659436 
    CR749352 AI341547 AF130988 NM_022336 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EDAR expression in normal human tissues (normalized intensities)      EDAR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    EDAR Expression
    About this image


    EDAR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 3 entries
             Dental Placode Cells Dental Placode
     
     Hair (Integumentary System)    fully expand to see all 2 entries
             Primary Hair Placode Cells Hair Follicle
     
     Ectoderm (Gastrulation Derivatives)
             Ectoderm Cells Branchial Arch 1
     
     Head Mesenchyme (Muscoskeletal System)
             Ectoderm Cells Branchial Arch 1
     
     Colon (Gastrointestinal Tract)

    See EDAR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EDAR

    SOURCE GeneReport for Unigene cluster: Hs.171971

    UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0
    Tissue specificity: Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not
    detected in lymphoblast and fibroblast cell lines

        SABiosciences Expression via Pathway-Focused PCR Array including EDAR: 
              Apoptosis 384HT in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for EDAR
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EDAR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDAR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for EDAR gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Edar1 , 5 ectodysplasin-A receptor1, 5 86.46(n)1
    91.52(a)1
      10 (29.37 cM)5
    136081  NM_010100.31  NP_034230.11 
     586007895 
    chicken
    (Gallus gallus)
    Aves EDAR1 ectodysplasin A receptor 76.73(n)
    85.01(a)
      428015  NM_001012611.1  NP_001012629.1 
    lizard
    (Anolis carolinensis)
    Reptilia EDAR6
    ectodysplasin A receptor
    80(a)
    1 ↔ 1
    3(107313660-107381508)
    African clawed frog
    (Xenopus laevis)
    Amphibia edar-prov2 ectodysplasin 1, anhidrotic receptor 76.18(n)    BC056067.1 
    zebrafish
    (Danio rerio)
    Actinopterygii edar1 ectodysplasin A receptor 69.76(n)
    69.79(a)
      796370  NM_001115064.1  NP_001108536.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EDAR gene
    1 SIMAP similar gene for EDAR using alignment to 2 protein entries:     EDAR_HUMAN (see all proteins):
    DKFZp686M13211

    EDAR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0
    Polymorphism: 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


    10/2137 SNPs in EDAR are shown (see all 2137)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0648344
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0648342 W R mis40--------
    VAR_0544534
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0544532 W C mis40--------
    VAR_0648304
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0648302 R Q mis40--------
    VAR_0134504
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0134502 R Q mis40--------
    VAR_0648334
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0648332 I F mis40--------
    VAR_0134484
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0134482 C R mis40--------
    VAR_0544484
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0544482 L F mis40--------
    VAR_0544494
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0544492 G S mis40--------
    VAR_0544474
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0544472 R H mis40--------
    VAR_0648314
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)4--see VAR_0648312 R Q mis40--------

    HapMap Linkage Disequilibrium report for EDAR (109510927 - 109605828 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for EDAR:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2720507CNV Deletion23290073
    esv2132532CNV Deletion18987734
    esv2657394CNV Deletion23128226
    nsv508854CNV Insertion20534489
    nsv516437CNV Loss19592680
    nsv874773CNV Gain21882294


    Human Gene Mutation Database (HGMD): EDAR
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604095   
    OMIM disorders: 129490  224900  612630  
    UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for EDAR:    About MalaCards
    hypohidrotic ectodermal dysplasia, autosomal    hair morphology 1, hair thickness    ectodermal dysplasia    hypohidrotic ectodermal dysplasia
    hypohidrosis    clouston syndrome    tooth agenesis    hypotrichosis
    osteosarcoma    hepatitis b    hepatitis    breast cancer

    3 diseases from the University of Copenhagen DISEASES database for EDAR:
    Hypohidrotic ectodermal dysplasia     Hypohidrosis     Clouston syndrome

    EDAR for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for EDAR gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ectodermal dysplasia, hypohidrotic 96.4 23 20199431 (2), 19551394 (2), 11374782 (1), 11570810 (1) (see all 18)
    ectodermal dysplasia 91.4 17 15280356 (2), 11035039 (2), 12270937 (2), 20145163 (2) (see all 12)
    necrosis 40.6 15 11570810 (1), 17371397 (1), 14699584 (1), 15280356 (1) (see all 11)
    tumors 12.4 15 11570810 (1), 17371397 (1), 14699584 (1), 15280356 (1) (see all 11)
    immunodeficiency 0 1 19504606 (1)

    GeneTests: EDAR
    GeneReviews: EDAR
    Genetic Association Database (GAD): EDAR
    Human Genome Epidemiology (HuGE) Navigator: EDAR (7 documents)

    Export disorders for EDAR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EDAR gene, integrated from 9 sources (see all 80):
    (articles sorted by number of sources associating them with EDAR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. (PubMed id 10431241)1, 2, 3, 9 Monreal A.W....Zonana J. (1999)
    2. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. (PubMed id 18561327)1, 2, 9 Mou C....Headon D.J. (2008)
    3. The ectodermal dysplasia receptor activates the nuclear factor- kappaB, JNK, and cell death pathways and binds to ectodysplasin A. (PubMed id 11035039)1, 2, 9 Kumar A.... Chaudhary P.M. (2001)
    4. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (PubMed id 18231121)1, 2, 9 van der Hout A.H....van Essen A.J. (2008)
    5. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. (PubMed id 16435307)1, 2, 9 Chassaing N.... Vincent M.-C. (2006)
    6. A common variation in EDAR is a genetic determinant o f shovel-shaped incisors. (PubMed id 19804850)1, 4, 9 Kimura R....Oota H. (2009)
    7. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. (PubMed id 18065779)1, 2, 9 Fujimoto A....Tokunaga K. (2008)
    8. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. (PubMed id 19438931)1, 2, 9 Shimomura Y....Christiano A.M. (2009)
    9. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. (PubMed id 20979233)1, 2 Cluzeau C.... Smahi A. (2011)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10913 HGNC: 2895 AceView: EDAR Ensembl:ENSG00000135960 euGenes: HUgn10913
    ECgene: EDAR Kegg: 10913 H-InvDB: EDAR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EDAR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDAR

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EDAR gene:
    Search GeneIP for patents involving EDAR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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