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EDARADD Gene

protein-coding   GIFtS: 47

GC01P234691
EDAR-associated death domain
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ED3 2, 5
EDA3 2, 5
OTTHUMP00000037857 2
OTTHUMP00000037858 2
Descriptions
Crinkled homolog 2, 3
EDAR-associated death domain 2
EDAR-associated death domain protein 2, 3
ectodysplasia A receptor associated death domain 2
ectodysplasin A receptor associated adapter protein 2
External Ids
HGNC: 143411
Entrez Gene: 1281782
UniProtKB: Q8WWZ33
Ensembl: ENSG000001861977
Search outside databases for aliases for EDARADD gene

Previous GC identifers: GC01P232012 GC01P232808 GC01P233598 GC01P232884 GC01P232885

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

EntrezGene summary for EDARADD:
This gene was identified by its association with ectodermal dysplasia, a genetic disorder
characterized by defective development of hair, teeth, and eccrine sweat glands. The protein
encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a
death domain receptor known to be required for the development of hair, teeth and other ectodermal
derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of
hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and
links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants
of this gene encoding distinct isoforms have been reported. [provided by RefSeq]

UniProtKB/Swiss-Prot: EDAD_HUMAN, Q8WWZ3
Function: Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA
signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B

Gene Wiki entry for EDARADD

(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 EDARADD gene  

Entrez Gene cytogenetic band: 1q43   Ensembl cytogenetic band:  1q43   HGNC cytogenetic band: 1q42.3

EDARADD 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 1         GeneLoc Exon Structure

GeneLoc location for GC01P234691:     (about GC identifiers)

Start:
234,624,303 bp from pter
End:
234,714,631 bp from pter
Size:
90,329 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004836.17  
(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)
About This Section

UniProtKB/Swiss-Prot: EDAD_HUMAN, Q8WWZ3 (See protein sequence)
Recommended Name: Ectodysplasin-A receptor-associated adapter protein  
Size: 215 amino acids; 24802 Da
Subunit: Self-associates and binds EDAR, TRAF1, TRAF2 and TRAF3
Subcellular location: Cytoplasm (Probable)
Secondary accessions: B1AL54 Q5VYJ7
Alternative splicing: 2 isoforms:  Q8WWZ3-1   Q8WWZ3-2   

REFSEQ proteins (2 alternative transcripts): 
NP_542776.1  NP_665860.2  


ENSEMBL proteins: 
ENSP00000335076 ENSP00000355546 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
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Browse Abnova for Human Recombinant Proteins
              OriGene Purified Recombinant Human Protein: EDARADD 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IEA--
About this table

Antibodies for EDARADD: 
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
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Search Novus for antibodies for EDARADD

Assays for EDARADD: 
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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

1 InterPro domain/family:
 IPR000488 Death


   GeneDecks  EDARADD for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q8WWZ3

ProtoNet protein and cluster: Q8WWZ3

1 Blocks protein family: IPB000488 Death domain

UniProtKB/Swiss-Prot: EDAD_HUMAN, Q8WWZ3
Similarity: Contains 1 death domain

(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 (EDARADD)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_145861

              Applied Biosystems Silencer® siRNAs for EDARADD

              Sigma-Aldrich siRNA for EDARADD  
                     Sigma-Aldrich shRNA for EDARADD  
                     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 clones in CMV expression vector (see all 2): NM_080738
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_080738
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_080738 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_145861

UniProtKB/Swiss-Prot: EDAD_HUMAN, Q8WWZ3
Function: Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA
signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B

15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Edaradd):

behavior/neurologicalcraniofacialendocrine/exocrine glandgrowth/sizehearing/vestibular/ear
homeostasis/metabolismlethality-postnatallife span-post-weaning/aginglimbs/digits/tailnervous system
pigmentationreproductive systemrespiratory systemskin/coat/nailsvision/eye

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005515 protein binding ISS--
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


 Gene Network CentralTM Interacting Genes and Proteins Network for  EDARADD 

  --

4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007165 signal transduction IEA--
GO:0007249 I-kappaB kinase/NF-kappaB cascade ISS11780064
GO:0007275 multicellular organismal development IEA--
GO:0030154 cell differentiation 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 EDARADD

(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 (EDARADD)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_145861

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

Applied Biosystems Silencer® siRNAs: 

NM_080738  NM_145861  

REFSEQ mRNAs for EDARADD gene (2 alternative transcripts): 

NM_080738.3   NM_145861.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_080738  NM_145861  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_080738
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_080738
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_080738 

Additional cDNA sequence: 

AK096339.1 AK290862.1 AK291930.1 AK314634.1 AY028913.1 AY028914.1 AY071862.1 BC006533.2 
BC114557.1 BC114560.1 BC128082.1 

24/32 DOTS entries (see all 32 ):

DT.40269519  DT.100044212  DT.100734628  DT.100662717  DT.100734719  DT.95167954  DT.95167955  DT.100734673 
DT.92386651  DT.92472726  DT.100642965  DT.100734610  DT.121397993  DT.92393969  DT.92472596  DT.92472607 
DT.95167907  DT.97857337  DT.97863410  DT.99990205  DT.100060472  DT.100734602  DT.100734605  DT.100734614 

24/37 AceView cDNA sequences (see all 37 ):

NM_080738 CA841301 AI140628 AL705374 BX109179 AY071862 BQ436003 BG679812 
BE294841 AY028914 AW245779 BG120587 CA843003 NM_145861 BQ631337 AI096404 
BQ959390 BE904884 AK096339 BC006533 CB123098 BC046928 CD516461 AY028913 

highest scoring ESTs for EDARADD:

AY028913 AY028914 BE141737 BE392512 BE904884 BG260205 BQ631615 BQ959390 CA842490 CB123098 

Unigene Cluster for EDARADD:

EDAR-associated death domain
Hs.352224  [show with all ESTs]
Unigene Representative Sequence: NM_080738


GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:
ENST00000334232  ENST00000366587  
(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

EDARADD expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for EDARADD

1 / 2

1 probe-set matching EDARADD gene


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

1553430_a_at2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GTGCCTCATC

SOURCE GeneReport for Unigene cluster: Hs.352224

UniProtKB/Swiss-Prot: EDAD_HUMAN, Q8WWZ3
Tissue specificity: Detected in adult pancreas, placenta and fetal skin, and at lower levels in
lung, thymus, prostate and testis

(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 EDARADD gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
EDARADD1   -- EDAR-associated death domain 87.46(n)
87.13(a)
607372  XM_844008.1  XP_849101.1 
chimpanzee
(Pan troglodytes)
EDARADD1   -- EDAR-associated death domain 97.17(n)
97.17(a)
457841  XM_514291.2  XP_514291.2 
rat
(Rattus norvegicus)
Edaradd1   -- EDAR-associated death domain 81.46(n)
83.67(a)
498769  XM_574055.2  XP_574055.2 
mouse
(Mus musculus)
Edaradd1, 5 13 (6.00 cM)5
EDAR (ectodysplasin-A receptor)-associated death domain1, 5 82.06(n)1
80.71(a)1
1712111  NM_133643.31  NP_598398.31 
 AF3586715  AK0180475  (see all 13)
chicken
(Gallus gallus)
EDARADD1   -- EDAR-associated death domain 70.65(n)
66.3(a)
497625  NM_001012405.2  NP_001012405.2 
About this table        Species with no ortholog for EDARADD

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

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


10/816 NCBI SNPs in EDARADD are shown (see all 816 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 205)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs9663651,2
A,C,F,H,O234624394(-) CTCCCT/CATCTG 2 I/M mis1 ng51 ese316Minor allele frequency- C:0.19NA EA MN EU WA 1682
rs75134021,2
A,C,F,H234714134(+) CGCTCT/CGTGAC 2 -- ut314Minor allele frequency- C:0.24EU EA WA 412
rs108025331,2
A,C,F,H234624035(+) CTTTAG/TAGCAA 2 -- ng514Minor allele frequency- T:0.19EU EA WA 416
rs9663641,2
A,C,F,H234624551(-) AAAGTT/CGGGTC 2 -- ng51 int14Minor allele frequency- C:0.21EU EA WA 416
--
rs39169831,2
A,C,F,H234714173(-) CCATTG/CGCCTG 2 -- ut31 ese34Minor allele frequency- C:0.25NA EA WA 778
rs109251151,2
C,F,H234622315(+) GATCAT/CAGCTC 1 -- ng518Minor allele frequency- C:0.04EU EA WA 830
--
rs75209781,2
A,C234623510(+) cggtgA/Gggttt 2 -- ng510--------
--
rs75556301,2
A,C234623412(+) ctcccA/Gggttc 2 -- ng510--------
rs64289551,2
A,C234714359(+) TTTGCC/TGGCAG 2 -- ut31 ese30--------
--
rs46596671,2
A,C234622781(+) agagaC/Tggggt 1 -- ng510--------
About this table

HapMap Linkage Disequilibrium images for EDARADD (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: 606603   disorders: 224900  129490  

UniProtKB/Swiss-Prot: EDAD_HUMAN, Q8WWZ3

  • Defects in EDARADD 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
  • 3 Novoseek disease relationships for EDARADD gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ectodermal dysplasia, hypohidrotic 93.52 1 17354266 (1)
    necrosis 18.90 1 15973734 (1)
    tumors 0.00 1 15973734 (1)
    About this table

    GeneTests: EDARADD
    Hypohidrotic Ectodermal Dysplasia

    Human Gene Mutation Database: EDARADD

    (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

    10/18 PubMed articles for EDARADD gene (see all 18 ):
    (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: 128178 HGNC: 14341 AceView: EDARADD Ensembl:ENSG00000186197 euGenes: HUgn128178
    ECgene: EDARADD H-InvDB: EDARADD
    (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=EDARADD
    (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 EDARADD:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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