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EDAR Gene

protein-coding   GIFtS: 61
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)
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Aliases
Ectodysplasin A Receptor1 2     ECTD10B2 5
DL1 2 3 5     EDA32 5
ED31 2 5     HRM12 5
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
ECTD10A2 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for EDAR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • Glycosylation2 at Asn38
  • Modification sites at PhosphoSitePlus

  • See EDAR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071731.1  
    ENSEMBL proteins: 
     ENSP00000386371   ENSP00000258443   ENSP00000365839  

    EDAR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    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
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    Novus Biologicals EDAR Protein
    Novus Biologicals EDAR Lysate
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    Sino Biological Cell Lysate for EDAR
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    Cloud-Clone Corp. Proteins for EDAR

    EDAR Antibody Products:

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    LSBio Antibodies in human, mouse, rat for EDAR

    EDAR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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: Let us create your new Knockout/Knockin mouse model for EDAR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    Block miRNA regulation of human, mouse, rat EDAR using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for EDAR
    Predesigned siRNA for gene silencing in human, mouse, rat EDAR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EDAR

    Clone
    Products:
         
    OriGene clones in human, mouse for EDAR (see all 6)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EDAR
    Browse ESI BIO Cell Lines and PureStem Progenitors for EDAR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDAR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EDAR_HUMAN, Q9UNE0: Membrane; Single-pass type I membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    EDAR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for EDAR About    
    See pathways by source

    SuperPathContained pathways About
    1TNF Signaling
    TNF Signaling0.50
    TNF Superfamily - Human Ligand-Receptor Interactions and 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 GeneGlobe 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

        Pathway & Disease-focused RT2 Profiler PCR Array including EDAR: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EDAR

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

    Selected 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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EDAR

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



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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:
         
    Block miRNA regulation of human, mouse, rat EDAR using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for EDAR
    Predesigned siRNA for gene silencing in human, mouse, rat EDAR
    Clone
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    OriGene clones in human, mouse for EDAR (see all 6)
    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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EDAR
    OriGene qSTAR qPCR primer pairs in human, mouse for EDAR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EDAR
      QuantiTect SYBR Green Assays in human, mouse, rat EDAR
      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:

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

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EDAR expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Epithelial Cells
             Dental Placode Cells Dental Placode
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Dental Placode Cells Dental Placode
     
     Ectoderm (Gastrulation Derivatives)
             Ectoderm Cells Branchial Arch 1
     
     Blood (Hematopoietic System)
             T Helper Cells Peripheral Blood
     
     Head Mesenchyme (Muscoskeletal System)
             Ectoderm Cells Branchial Arch 1
    EDAR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EDAR Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including EDAR: 
              Apoptosis 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for EDAR
    OriGene qSTAR qPCR primer pairs in human, mouse for EDAR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EDAR
    QuantiTect SYBR Green Assays in human, mouse, rat EDAR
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for EDAR gene from Selected 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 77.15(n)
    85.88(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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    EDAR_HUMAN, Q9UNE0: 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


    Selected SNPs for EDAR (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EDAR
    DNA2.0 Custom Variant and Variant Library Synthesis for EDAR

    (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.)
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    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

  • 17 diseases for EDAR:    
    About MalaCards
    ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant    ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive    hypohidrotic ectodermal dysplasia    hypohidrotic ectodermal dysplasia, autosomal
    ectodermal dysplasia    clouston syndrome    hypohidrosis    tooth agenesis
    hypotrichosis    dementia    osteosarcoma    hepatitis b
    hepatitis    alzheimer's disease    breast cancer    multiple myeloma
    myeloma

    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)
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    PubMed articles for EDAR gene, integrated from 10 sources (see all 81):
    (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. (Nat. Genet. 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. (Hum. Mutat. 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. (J. Biol. Chem. 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. (Eur. J. Hum. Genet. 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. (Hum. Mutat. 2006)
    6. A common variation in EDAR is a genetic determinant of shovel-shaped incisors. (PubMed id 19804850)1, 4, 9 Kimura R....Oota H. (Am. J. Hum. Genet. 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. (Hum. Mol. Genet. 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. (Clin. Genet. 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. (Hum. Mutat. 2011)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10913 HGNC: 2895 AceView: EDAR Ensembl:ENSG00000135960 euGenes: HUgn10913
    ECgene: EDAR Kegg: 10913 H-InvDB: EDAR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EDAR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EDAR[genesymbol]

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

    GeneCards and IP:
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