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EDAR Gene

protein-coding   GIFtS: 57

GC02M108969
ectodysplasin A receptor
(Previous names: ectodysplasin 1, anhidrotic receptor )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ED3, DL)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DL 2, 3, 5
ED1R 1, 2
ED3 2, 5
ED5 1, 2
EDA-A1R 2
EDA1R 1, 2
EDA3 1, 2, 5
Edar 1
FLJ94390 2
HRM1 2, 5
Descriptions
Anhidrotic ectodysplasin receptor 1 3
Downless homolog 3
EDA-A1 receptor 3
Ectodermal dysplasia receptor 3
Ectodysplasin-A receptor 3
downless, mouse, homolog of 2
ectodysplasin 1, anhidrotic receptor 1, 2
ectodysplasin A receptor 2
External Ids
HGNC: 28951
Entrez Gene: 109132
UniProtKB: Q9UNE03
Ensembl: ENSG000001359607
Search outside databases for aliases for EDAR gene

Previous GC identifers: GC02M107416 GC02M107989 GC02M109115 GC02M109132

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

EntrezGene summary for EDAR:
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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the EDAR gene  

Entrez Gene cytogenetic band: 2q11-q13   Ensembl cytogenetic band:  2q13   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)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M108969:     (about GC identifiers)

Start:
108,877,359 bp from pter
End:
108,972,260 bp from pter
Size:
94,902 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_022171.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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
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: Q52LL5 Q9UND9

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_071731.1  

    ENSEMBL proteins: 
    ENSP00000386371 ENSP00000365839 ENSP00000258443 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    R&D Systems Recombinant & Natural Proteins for EDAR
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (EDAR)
    Human Recombinant Proteins from Abnova (EDAR)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

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

    Antibodies for EDAR: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for EDAR
    R&D Systems Antibodies for EDAR
    Antibodies from Abcam (EDAR), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (EDAR)
    Novus Biologicals Antibodies for EDAR

    Assays for EDAR: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR001368 TNFR_Cys_rich_reg
     IPR000488 Death


       GeneDecks  EDAR for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9UNE0

    ProtoNet protein and cluster: Q9UNE0

    2 Blocks protein families:
    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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (EDAR)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (EDAR)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022336

                  Applied Biosystems Silencer® siRNAs for EDAR

                  Sigma-Aldrich siRNA for EDAR  
                         Sigma-Aldrich shRNA for EDAR  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_022336
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_022336
                                     untagged cDNA clone in CMV expression vector: NM_022336 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_022336

    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

    6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Edar):

    cellularcraniofaciallethality-postnatallimbs/digits/tailskin/coat/nails
    touch/vibrissae

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888 transmembrane receptor activity NAS10431241
    GO:0005515 protein binding IPI11035039
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Kegg Pathway  (Kegg details for EDAR):
     hsa04060 Cytokine-cytokine receptor interaction

       GeneDecks  EDAR for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  EDAR 


    5/31 Interacting proteins for EDAR (ENSP000003658393 Q9UNE01) via UniProtKB, MINT, and/or STRING (see all 31 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAF3Q131141STRING (score=.812) EBI-529289, EBI-357631
    EDAQ928381EBI-529289, EBI-529425
    MAP3K14Q995581EBI-529289, EBI-358011
    Traf1 Traf1 (xeno)P394281EBI-529289, EBI-520123
    Traf2 Traf2 (xeno)P394291EBI-529289, EBI-520016
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001942 hair follicle development IEA--
    GO:0006915 apoptosis IEA--
    GO:0007165 signal transduction IEA--
    GO:0007275 multicellular organismal development IEA--
    GO:0007431 salivary gland development IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for EDAR

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (EDAR)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (EDAR)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022336

                  Sigma-Aldrich siRNA for EDAR  
                         Sigma-Aldrich shRNA for EDAR  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_022336  

    REFSEQ mRNAs for EDAR gene: 

    NM_022336.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_022336  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_022336
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_022336
                                     untagged cDNA clone in CMV expression vector: NM_022336 

    Additional cDNA sequence: 

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

    1 DOTS entry:

    DT.402912 

    12 AceView cDNA sequences:

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

    highest scoring ESTs for EDAR:

    AF130988 AI659436 AA478934 AA588273 AI017384 AI341547 AI888259 AU185236 AW751561 BX112904 

    Unigene Cluster for EDAR:

    Ectodysplasin A receptor
    Hs.171971  [show with all ESTs]
    Unigene Representative Sequence: CR749352


    GeneLoc Exon Structure

    3 Ensembl transcripts including schematic representations:
    ENST00000409271  ENST00000376651  ENST00000258443  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    EDAR expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for EDAR

    1 / 2 / 3

    3 probe-sets matching EDAR gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    47323_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 AI659436 0.80 1.00 0.91 1

    220048_at2, 3 U133-A 1 1.00 1.00 -- -- NM_022336 0.60 1.00 0.82 1

    220048_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for EDAR gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    EDAR1   -- ectodysplasin A receptor 88.67(n)
    93.06(a)
    481305  XM_538426.2  XP_538426.2 
    chimpanzee
    (Pan troglodytes)
    EDAR1   -- ectodysplasin A receptor 99.63(n)
    100(a)
    735810  XM_001139583.1  XP_001139583.1 
    cow
    (Bos taurus)
    EDAR1   -- similar to ectodysplasin A receptor 84.57(n)
    86.98(a)
    613947  XM_865192.2  XP_870285.2 
    rat
    (Rattus norvegicus)
    Edar1   -- ectodysplasin-A receptor 85.49(n)
    91.29(a)
    365581  XM_345109.3  XP_345110.3 
    mouse
    (Mus musculus)
    Edar1, 5 10 (29.00 cM)5
    ectodysplasin-A receptor1, 5 86.46(n)1
    91.52(a)1
    136081  NM_010100.21  NP_034230.11 
     AC0789305  AF1605025  (see all 8)
    About this table        Species with no ortholog for EDAR

    ENSEMBL Gene Tree for EDAR
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for EDAR gene
    TNFRSF192  EDA2R2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0
    Polymorphism: Genetic variation in EDAR is associated with hair morphology type 1 (HRM1)
    [MIM:612630]; also called variation in hair thickness. 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


    10/581 NCBI SNPs in EDAR are shown (see all 581 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 230)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs37490961,2
    A,C,F,H108878860(+) TTGAAG/ATGAAA 1 -- ut31 ese38Minor allele frequency- A:0.13EA EU WA NA 2030
    rs37491101,2
    A,C,F,H108972199(-) GTGCCT/CGCTCC 1 -- ut51 ese312Minor allele frequency- C:0.28EA EU WA NA 2446
    rs38277601,2
    A,C,F,H108880033(-) GGCTGC/TTGTGA 1 V/A mis1 ese312Minor allele frequency- T:0.37EA NA EU WA 2466
    rs76075631,2
    C,F,H108879753(+) GTTGGA/CTCCTT 1 -- ut314Minor allele frequency- C:0.10EU EA WA 400
    rs130016991,2
    C,F,H108878666(+) CGACAC/TCAAGC 1 -- ut316Minor allele frequency- T:0.26NA EA WA 438
    rs37490971,2
    C,F,H108879038(+) ATCCAA/GTTGCT 1 -- ut3110Minor allele frequency- G:0.11EA NA EU WA 2222
    rs67492071,2
    C,F,H108973688(+) GGTTGC/TCTACC 1 -- ng314Minor allele frequency- T:0.45EU EA WA 396
    rs170370351,2
    F,H108877345(+) CATTAC/TGGTAG 1 -- ng517Minor allele frequency- T:0.04NA EU EA WA 556
    --
    rs14785171,2
    A,C108877369(+) TTAATA/GTGTTT 1 -- ut310--------
    rs102067371,2
    F,H108878796(+) TATGCG/ATGGCT 1 -- ut31 ese34Minor allele frequency- A:0.01EU EA WA 394
    About this table

    HapMap Linkage Disequilibrium images for EDAR (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 604095   disorders: 129490  224900  612630  

    UniProtKB/Swiss-Prot: EDAR_HUMAN, Q9UNE0

  • Defects in EDAR are a cause of ectodermal dysplasia anhidrotic (EDA) [MIM:224900]; also
    known ectodermal dysplasia hypohidrotic autosomal recessive (HED). Ectodermal dysplasia defines a
    heterogeneous group of disorders due to abnormal development of two or more ectodermal structures.
    EDA is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and
    the inability to sweat due to the absence of sweat glands
  • Defects in EDAR are the cause of ectodermal dysplasia type 3 (ED3) [MIM:129490]; also
    known as ectodermal dysplasia hypohidrotic autosomal dominant or EDA3. ED3 is an autosomal
    dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due
    to the absence of sweat glands
  • 4 Novoseek disease relationships for EDAR gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ectodermal dysplasia, hypohidrotic 95.85 13 11374782 (1), 11570810 (1), 16251197 (1), 17501952 (1) (see all 12)
    ectodermal dysplasia 91.60 13 15280356 (2), 11035039 (2), 12270937 (2), 11374782 (1) (see all 9)
    necrosis 40.29 13 11570810 (1), 17371397 (1), 14699584 (1), 15280356 (1) (see all 9)
    tumors 11.45 13 11570810 (1), 17371397 (1), 14699584 (1), 15280356 (1) (see all 9)
    About this table

    GeneTests: EDAR
    Hypohidrotic Ectodermal Dysplasia

    Human Gene Mutation Database: EDAR

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/54 PubMed articles for EDAR gene (see all 54 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      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, and/or H-InvDB)
    About This Section

    Entrez Gene: 10913 HGNC: 2895 AceView: EDAR Ensembl:ENSG00000135960 euGenes: HUgn10913
    ECgene: EDAR H-InvDB: EDAR
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=EDAR
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for EDAR:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for EDAR-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for EDAR Antibodies for EDAR
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for EDAR Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for EDAR

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