Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



EDARADD Gene

protein-coding   GIFtS: 52
GCID: GC01P236511

EDAR-Associated Death Domain

  See EDARADD-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

TryGeneCards Plus

Aliases
EDAR-Associated Death Domain1 2     Crinkled Homolog2
EDAR-Associated Death Domain Protein2 3     Ectodysplasia A Receptor Associated Death Domain2
ECTD11A2 5     Ectodysplasin A Receptor Associated Adapter Protein2
ECTD11B2 5     Ectodysplasin-A Receptor-Associated Adapter Protein2
ED32 5     Protein Crinkled Homolog3
EDA32 5     

External Ids:    HGNC: 143411   Entrez Gene: 1281782   Ensembl: ENSG000001861977   OMIM: 6066035   UniProtKB: Q8WWZ33   

Export aliases for EDARADD gene to outside databases

Previous GC identifers: GC01P234691 GC01P232012 GC01P232808 GC01P233598 GC01P232884 GC01P232885 GC01P207012


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

TryGeneCards Plus

Entrez Gene summary for EDARADD Gene:
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, Jul 2008)

GeneCards Summary for EDARADD Gene:
EDARADD (EDAR-associated death domain) is a protein-coding gene. Diseases associated with EDARADD include ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, and hypohidrotic ectodermal dysplasia, autosomal.

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 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_167186.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EDARADD gene promoter:
         AhR   SRY   FOXF2   AML1a   Sox9   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EDARADD promoter sequence
   Search Chromatin IP Primers for EDARADD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EDARADD


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

Entrez Gene cytogenetic band: 1q42.3   Ensembl cytogenetic band:  1q42.3   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)
EDARADD gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P236511:  view genomic region     (about GC identifiers)

Start:
236,511,562 bp from pter      End:
236,648,214 bp from pter
Size:
136,653 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

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
Secondary accessions: A2VCK5 A8K7B5 B1AL54 B9ZVW5 Q5VYJ7
Alternative splicing: 2 isoforms:  Q8WWZ3-1   Q8WWZ3-2   

Explore the universe of human proteins at neXtProt for EDARADD: NX_Q8WWZ3

Explore proteomics data for EDARADD at MOPED


See EDARADD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000405815   ENSP00000335076   ENSP00000352320  

EDARADD Human Recombinant Protein Products:

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

 
Search eBioscience for Proteins for EDARADD 

 
antibodies-online proteins for EDARADD (3 products) 

 
antibodies-online peptides for EDARADD

EDARADD Antibody Products:

Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for EDARADD
Novus Biologicals EDARADD Antibody
Abcam antibodies for EDARADD
Cloud-Clone Corp. Antibodies for EDARADD
Search ThermoFisher Antibodies for EDARADD
antibodies-online antibodies for EDARADD (3 products) 

EDARADD Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for EDARADD
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for EDARADD
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for EDARADD
Cloud-Clone Corp. CLIAs for EDARADD
Search eBioscience for ELISAs for EDARADD 
antibodies-online kits for EDARADD (4 products) 


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

TryGeneCards Plus
2 InterPro protein domains:
 IPR011029 DEATH-like_dom
 IPR000488 Death_domain

Graphical View of Domain Structure for InterPro Entry Q8WWZ3

ProtoNet protein and cluster: Q8WWZ3

1 Blocks protein domain: IPB000488 Death domain

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


Find genes that share domains with EDARADD           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with EDARADD           About GenesLikeMe


Phenotypes:
     15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Edaradd):
 behavior/neurological  craniofacial  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear 
 hematopoietic system  homeostasis/metabolism  integument  limbs/digits/tail  mortality/aging 
 nervous system  pigmentation  reproductive system  respiratory system  vision/eye 

Find genes that share phenotypes with EDARADD           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for EDARADD

miRNA
Products:
    
miRTarBase miRNAs that target EDARADD:
hsa-mir-378a-3p (MIRT043891), hsa-mir-18a-3p (MIRT040816)

Block miRNA regulation of human, mouse, rat EDARADD using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate EDARADD (see all 26):
hsa-miR-4291 hsa-miR-576-3p hsa-miR-34b* hsa-miR-328 hsa-miR-376b hsa-miR-2110 hsa-let-7a-2* hsa-miR-548s
SwitchGear 3'UTR luciferase reporter plasmidEDARADD 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for EDARADD
Predesigned siRNA for gene silencing in human, mouse, rat EDARADD

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

Clone
Products:
     
OriGene clones in human, mouse for EDARADD (see all 12)
OriGene ORF clones in mouse, rat for EDARADD
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): EDARADD (NM_145861)
Sino Biological Human cDNA Clone for EDARADD
DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDARADD
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDARADD

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

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDARADD


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
EDAD_HUMAN, Q8WWZ3: Cytoplasm (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2
extracellular1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

Find genes that share ontologies with EDARADD           About GenesLikeMe


(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).
About This Section

TryGeneCards Plus




    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EDARADD
Interactions:

    GeneGlobe Interaction Network for EDARADD

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

Selected Interacting proteins for EDARADD (Q8WWZ33 ENSP000003350764) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
InteractantInteraction Details
GeneCardExternal ID(s)
EDARQ9UNE03, ENSP000002584434I2D: score=2 STRING: ENSP00000258443
TRAF2Q129333, ENSP000002476684I2D: score=2 STRING: ENSP00000247668
UVRAGQ9P2Y53, ENSP000003484554I2D: score=1 STRING: ENSP00000348455
ATG5Q9H1Y03I2D: score=1 
PIK3CGP487363I2D: score=1 
About this table

Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001942hair follicle development IEA--
GO:0007165signal transduction IEA--
GO:0030154cell differentiation IEA--
GO:0042475odontogenesis of dentin-containing tooth IEA--
GO:0061153trachea gland development IEA--

Find genes that share ontologies with EDARADD           About GenesLikeMe



(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)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for EDARADD (EDAD)



(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for EDARADD gene (2 alternative transcripts): 
NM_080738.3  NM_145861.2  

Unigene Cluster for EDARADD:

EDAR-associated death domain
Hs.352224  [show with all ESTs]
Unigene Representative Sequence: NM_080738
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000439430 ENST00000334232 ENST00000359362(uc001hxu.1 uc001hxv.1)

miRNA
Products:
     
Block miRNA regulation of human, mouse, rat EDARADD using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate EDARADD (see all 26):
hsa-miR-4291 hsa-miR-576-3p hsa-miR-34b* hsa-miR-328 hsa-miR-376b hsa-miR-2110 hsa-let-7a-2* hsa-miR-548s
SwitchGear 3'UTR luciferase reporter plasmidEDARADD 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for EDARADD
Predesigned siRNA for gene silencing in human, mouse, rat EDARADD
Clone
Products:
     
OriGene clones in human, mouse for EDARADD (see all 12)
OriGene ORF clones in mouse, rat for EDARADD
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): EDARADD (NM_145861)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDARADD
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDARADD
Primer
Products:
    
OriGene qPCR primer pairs and template standards for EDARADD
OriGene qSTAR qPCR primer pairs in human, mouse for EDARADD
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EDARADD
  QuantiTect SYBR Green Assays in human, mouse, rat EDARADD
  QuantiFast Probe-based Assays in human, mouse, rat EDARADD

Additional mRNA sequence: 

AK096339.1 AK290862.1 AK291930.1 AK314634.1 AY028913.1 AY028914.1 AY071862.1 BC006533.2 
BC046928.1 BC114557.1 BC114560.1 BC128082.1 

Selected DOTS entries (see all 30):

DT.40269519  DT.100044212  DT.100734628  DT.100662717  DT.100734673  DT.100734719  DT.92472726  DT.95167955 
DT.121397993  DT.92386651  DT.92393969  DT.92472596  DT.95167907  DT.95167954  DT.97857337  DT.99990205 
DT.100060472  DT.100642965  DT.100734605  DT.100734610  DT.100734614  DT.100734633  DT.100734682  DT.100734717 

Selected AceView cDNA sequences (see all 37):

AI140628 AL705374 CA841301 BG679812 NM_080738 BQ436003 AY071862 BX109179 
BG120587 BQ959390 AW245779 BC046928 CD516461 AK096339 BE294841 AI096404 
BE904884 BQ631337 AY028913 AW245420 BC006533 CB123098 NM_145861 BG260205 

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)
About This Section

TryGeneCards Plus

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


EDARADD expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Tooth (Integumentary System)    fully expand to see all 2 entries
         Secondary Enamel Knot Cells Enamel Knot
 
 Epithelial Cells
         Primary Hair Placode Cells Hair Follicle
 
 Gut Tube (Gastrointestinal Tract)
         Foregut
 
 Hair (Integumentary System)
         Primary Hair Placode Cells Hair Follicle
 
 Kidney (Urinary System)
         Metanephros
EDARADD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

EDARADD Protein Expression

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

    Custom PCR Arrays for EDARADD
Primer
Products:
OriGene qPCR primer pairs and template standards for EDARADD
OriGene qSTAR qPCR primer pairs in human, mouse for EDARADD
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EDARADD
QuantiTect SYBR Green Assays in human, mouse, rat EDARADD
QuantiFast Probe-based Assays in human, mouse, rat EDARADD
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDARADD

(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

TryGeneCards Plus

This gene was present in the common ancestor of chordates.

Orthologs for EDARADD gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Edaradd1 , 5 EDAR (ectodysplasin-A receptor)-associated death domain1, 5 82.06(n)1
80.71(a)1
  13 (4.77 cM)5
1712111  NM_133643.41  NP_598398.31 
 124712095 
chicken
(Gallus gallus)
Aves EDARADD1 EDAR-associated death domain 70.65(n)
66.3(a)
  497625  NM_001012405.2  NP_001012405.2 
lizard
(Anolis carolinensis)
Reptilia EDARADD6
EDAR-associated death domain
61(a)
1 ↔ 1
1(219000268-219019479)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004901331 ectodysplasin-A receptor-associated adapter protein-like 63.37(n)
59.37(a)
  100490133  XM_002933876.2  XP_002933922.2 
zebrafish
(Danio rerio)
Actinopterygii edaradd1 EDAR-associated death domain 54.33(n)
50.28(a)
  566761  XM_690046.5  XP_695138.4 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section

TryGeneCards Plus
Paralogs for EDARADD gene
3 SIMAP similar genes for EDARADD using alignment to 4 protein entries:     EDAD_HUMAN (see all proteins):
ENO1    ENO3    ENO2

Find genes that share paralogs with EDARADD           About GenesLikeMe



(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)
About This Section

TryGeneCards Plus

Selected SNPs for EDARADD (see all 2318)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0134824
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B)4--see VAR_0134822 E K mis40--------
VAR_0545104
Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A)4--see VAR_0545102 L R mis40--------
VAR_0648354
Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A)4--see VAR_0648352 D Y mis40--------
rs743153091,2
Cpathogenic1243447944(+) ATGACA/GAATTG 4 K E mis10--------
rs787195081,2
--207030121(+) TTCTTC/TTTTCT 2 -- int10--------
rs24830671,2
C--207046542(+) TGTAAT/ATTTTT 2 -- int11Minor allele frequency- A:0.50NA 2
rs1999403971,2
--207046547(+) TTTTT-/TTAA  
        
TTTAT
2 -- int10--------
rs1852377201,2
--207046548(+) TTTTTA/TAATTT 2 -- int10--------
rs1467819011,2
C--207046568(+) ATTTT-/ATTTTA
        
TTTTT
2 -- int10--------
rs715599561,2
C--207046573(+) ATTTT-/A/TTTTTT 2 -- int11NA 2

HapMap Linkage Disequilibrium report for EDARADD (236511562 - 236648214 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for EDARADD (see all 11):    About this table    
Variant IDTypeSubtypePubMed ID
esv2725429CNV Deletion23290073
esv2725418CNV Deletion23290073
esv2666021CNV Deletion23128226
dgv104e199CNV Deletion23128226
nsv820827CNV Deletion20802225
nsv159414CNV Loss16902084
esv5800CNV Loss19470904
dgv551n71CNV Gain21882294
nsv516855CNV Gain19592680
esv28853CNV Gain19812545

Human Gene Mutation Database (HGMD): EDARADD
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing EDARADD
DNA2.0 Custom Variant and Variant Library Synthesis for EDARADD

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus
OMIM gene information: 606603   
OMIM disorders: 614941  614940  
UniProtKB/Swiss-Prot: EDAD_HUMAN, Q8WWZ3
  • Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940]: 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 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) [MIM:614941]: 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

  • 10 diseases for EDARADD:    
    About MalaCards
    ectodermal dysplasia 11a, hypohidrotic/hair/tooth type    hypohidrotic ectodermal dysplasia, autosomal    ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive    hypohidrotic ectodermal dysplasia
    ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant    ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive    hypohidrosis    clouston syndrome
    ectodermal dysplasia    tooth agenesis, selective, 1, with or without orofacial cleft

    4 diseases from the University of Copenhagen DISEASES database for EDARADD:
    Hypohidrotic ectodermal dysplasia     Hypohidrosis     Tooth agenesis     Clouston syndrome

    Find genes that share disorders with EDARADD           About GenesLikeMe

    3 Novoseek inferred disease relationships for EDARADD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ectodermal dysplasia, hypohidrotic 95 5 20477971 (2), 17354266 (1), 20222921 (1), 19504606 (1)
    necrosis 20.9 2 15973734 (1), 20477971 (1)
    tumors 0 2 15973734 (1), 20477971 (1)

    GeneTests: EDARADD
    GeneReviews: EDARADD

    Export disorders for EDARADD 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

    TryGeneCards Plus

    PubMed articles for EDARADD gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with EDARADD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene defect in ectodermal dysplasia implicates a DEATH domain adapter in development. (PubMed id 11780064)1, 2, 3 Headon D.J.... Overbeek P.A. (Nature 2001)
    2. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. (PubMed id 20222921)1, 2, 9 Chassaing N.... Calvas P. (Br. J. Dermatol. 2010)
    3. 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)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Identification of a novel DEATH domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice. (PubMed id 11882293)1, 2 Yan M....Dixit V.M. (Curr. Biol. 2002)
    7. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. (PubMed id 17354266)2, 9 Bal E.... Smahi A. (Hum. Mutat. 2007)
    8. TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd. (PubMed id 16251197)1, 9 Morlon A....Smahi A. (Hum. Mol. Genet. 2005)
    9. A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population. (PubMed id 22984994)1 Liu H....Feng H. (Eur. J. Oral Sci. 2012)
    10. Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. (PubMed id 21626677)1 Bergendal B....Dahl N. (Am. J. Med. Genet. A 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 128178 HGNC: 14341 AceView: EDARADD Ensembl:ENSG00000186197 euGenes: HUgn128178
    ECgene: EDARADD H-InvDB: EDARADD

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for EDARADD gene:
    Search GeneIP for patents involving EDARADD

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for EDARADD  
     OriGene qPCR primer pairs and template standards for EDARADD   OriGene Protein Over-expression Lysate for EDARADD  
     OriGene MassSpec for EDARADD   OriGene clones in human, mouse for EDARADD  
     OriGene qSTAR qPCR primer pairs in human, mouse for EDARADD   OriGene Purified Protein for EDARADD  
     OriGene ORF clones in mouse, rat for EDARADD   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for EDARADD   OriGene Custom Protein Services for EDARADD  

     
     
     Block miRNA regulation of human, mouse, rat EDARADD using miScript Target Protectors SeqTarget long-range PCR primers for resequencing EDARADD
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EDARADD Predesigned siRNA for gene silencing in human, mouse, rat EDARADD
     QuantiFast Probe-based Assays in human, mouse, rat EDARADD QuantiTect SYBR Green Assays in human, mouse, rat EDARADD
     Custom PCR Arrays for EDARADD Search Chromatin IP Primers for EDARADD
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EDARADD  GeneGlobe Interaction Network for EDARADD
     Regulatory tfbs in EDARADD promoter
     GenScript Custom Purified and Recombinant Proteins Services for EDARADD GenScript cDNA clones with any tag delivered in your preferred vector for EDARADD
     GenScript Custom Assay Services for EDARADD GenScript Custom overexpressing Cell Line Services for EDARADD
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for EDARADD (EDAD)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for EDARADD
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     EDARADD antibodies
     EDARADD lysates
     Antibodies for EDARADD
     See all of Abcam's Antibodies, Kits and Proteins for EDARADD
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for EDARADD
     Antibodies for EDARADD
     ELISAs for EDARADD
     CLIAs for EDARADD



     Browse ESI BIO Cell Lines and PureStem Progenitors for EDARADD
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDARADD
     SwitchGear 3'UTR luciferase reporter plasmids for EDARADD
     SwitchGear Promoter luciferase reporter plasmids for EDARADD
     Search ThermoFisher Antibodies for EDARADD
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDARADD
     Browse compounds at ApexBio
     Search Addgene for plasmids for EDARADD
      Search eBioscience for proteins for EDARADD
      Search eBioscience for elisas for EDARADD
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for EDARADD
     antibodies-online antibodies for EDARADD (3 products)
     antibodies-online kits for EDARADD (4 products)
     antibodies-online peptides for EDARADD
     antibodies-online proteins for EDARADD (3 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      EDARADD gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4