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Aliases & Descriptions for EDARADD
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for EDARADD genePrevious GC identifers: GC01P232012 GC01P232808 GC01P233598 GC01P232884 GC01P232885
Summaries for EDARADD (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for EDARADD : This gene was identified by its association with ectodermal dysplasia, a genetic disordercharacterized by defective development of hair, teeth, and eccrine sweat glands. The proteinencoded by this gene is a death domain-containing protein, and is found to interact with EDAR, adeath domain receptor known to be required for the development of hair, teeth and other ectodermalderivatives. This protein and EDAR are coexpressed in epithelial cells during the formation ofhair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, andlinks the receptor to downstream signaling pathways. Two alternatively spliced transcript variantsof 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 EDAsignaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B
Gene Wiki entry for EDARADD
Genomic Location 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
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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 Proteins for EDARADD
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: 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 Q5VYJ7Alternative 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               OriGene Purified Recombinant Human Protein: EDARADD 1 Gene Ontology (GO) cellular component term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005737 cytoplasm
IEA --
About this table Antibodies for EDARADD: Assays for EDARADD:
Protein
Domains/ Families for EDARADD(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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
Gene Function for EDARADD
(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 .)
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               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                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 EDAsignaling 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) :1 Gene Ontology (GO) molecular function term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005515 protein binding
ISS --
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Pathways & Interactions for EDARADD
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for EDARADD --4 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for EDARADD (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 )
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Browse Tocris compounds for EDARADD
Transcripts 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
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siRNAs from Applied Biosystems ,
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shRNA from
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OriGene ,
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               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
Expression for EDARADD
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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EDARADD expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for EDARADD 1 / 2
1 probe-set matching EDARADD gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTGCCTCATCSOURCE 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 inlung, thymus, prostate and testis
Orthologs for EDARADD
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for EDARADD gene from 5/6 species (see all 6
)
About this table Species with no ortholog for EDARADD ENSEMBL Gene Tree for EDARADD Paralogs for EDARADD (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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--
SNPs/Variants for EDARADD (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for EDARADD (up to first 250kb)
Disorders & Mutations for EDARADD
(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 .)
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OMIM: 606603 disorders : 224900 129490 UniProtKB/Swiss-Prot: EDAD_HUMAN, Q8WWZ3
Defects in EDARADD are a cause of ectodermal dysplasia anhidrotic (EDA) [MIM:224900]; alsoknown ectodermal dysplasia hypohidrotic autosomal recessive (HED). Ectodermal dysplasia defines aheterogeneous 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 andthe inability to sweat due to the absence of sweat glands
3 Novoseek disease relationships for EDARADD gene
About this table GeneTests: EDARADD Hypohidrotic Ectodermal Dysplasia Human Gene Mutation Database : EDARADD
Medical News for EDARADD (Possibly Related Articles in
Doctor's Guide )
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Publications for EDARADD (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/18 PubMed articles for EDARADD gene (see all 18
):
Search for EDARADD
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing EDARADD
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing EDARADD
(According to HUGE )
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Specialized Databases showing EDARADD (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
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Name Description
GeneReviews http://www.genetests.org/query?gene=EDARADD
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-- Services for EDARADD (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
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