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Aliases for EDARADD Gene

Aliases for EDARADD Gene

  • EDAR Associated Death Domain 2 3 5
  • EDAR-Associated Death Domain Protein 3 4
  • Ectodysplasin-A Receptor-Associated Adapter Protein 3
  • Ectodysplasia A Receptor Associated Death Domain 3
  • Protein Crinkled Homolog 4
  • Crinkled Homolog 3
  • ECTD11A 3
  • ECTD11B 3
  • EDA3 3
  • ED3 3

External Ids for EDARADD Gene

Previous GeneCards Identifiers for EDARADD Gene

  • GC01P234691
  • GC01P232012
  • GC01P232808
  • GC01P233598
  • GC01P232884
  • GC01P232885
  • GC01P236511
  • GC01P207012

Summaries for EDARADD Gene

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 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive and Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant. Among its related pathways are TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions and Immune System.

UniProtKB/Swiss-Prot for EDARADD Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDARADD Gene

Genomics for EDARADD Gene

Regulatory Elements for EDARADD Gene

Enhancers for EDARADD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F236415 1.2 FANTOM5 Ensembl ENCODE 27 +68.2 68246 2.7 PKNOX1 RFX1 BMI1 ELF1 TBX21 ZNF644 GABPA ZNF121 GATA2 ZNF512 EDARADD LGALS8 LGALS8-AS1 GPR137B MTR GC01P236477
GH01F236425 0.9 Ensembl ENCODE 23.6 +77.2 77168 0.4 CTCF PKNOX1 MTA2 WRNIP1 IKZF1 ZNF143 NBN TRIM22 RELA EDARADD GC01P236477
GH01F236398 1.2 Ensembl ENCODE 16.3 +51.3 51338 2.0 PKNOX1 ATF1 MLX DMAP1 ZNF48 ZNF121 KLF7 SP5 MIER2 REST EDARADD GC01P236477
GH01F236393 1.3 FANTOM5 ENCODE 14.7 +46.9 46869 3.2 ATF1 GLI4 ZNF2 ZNF121 GLIS2 ELK1 KLF7 KDM4B ZNF202 ZNF263 ENSG00000273058 ENSG00000230325 HEATR1 RPS21P1 EDARADD MTR LGALS8 GC01P236477
GH01F236421 0.9 ENCODE 16.3 +72.9 72919 0.2 PKNOX1 ATF1 KLF17 SIN3A GLIS2 FOS CREM JUNB TSHZ1 ZEB2 EDARADD GC01P236477
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EDARADD on UCSC Golden Path with GeneCards custom track

Genomic Location for EDARADD Gene

Chromosome:
1
Start:
236,348,257 bp from pter
End:
236,484,914 bp from pter
Size:
136,658 bases
Orientation:
Plus strand

Genomic View for EDARADD Gene

Genes around EDARADD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDARADD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDARADD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDARADD Gene

Proteins for EDARADD Gene

  • Protein details for EDARADD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWZ3-EDAD_HUMAN
    Recommended name:
    Ectodysplasin-A receptor-associated adapter protein
    Protein Accession:
    Q8WWZ3
    Secondary Accessions:
    • A2VCK5
    • A8K7B5
    • B1AL54
    • B9ZVW5
    • Q5VYJ7

    Protein attributes for EDARADD Gene

    Size:
    215 amino acids
    Molecular mass:
    24802 Da
    Quaternary structure:
    • Self-associates and binds EDAR, TRAF1, TRAF2 and TRAF3.

    Alternative splice isoforms for EDARADD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDARADD Gene

Post-translational modifications for EDARADD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EDARADD Gene

No data available for DME Specific Peptides for EDARADD Gene

Domains & Families for EDARADD Gene

Protein Domains for EDARADD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EDARADD Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWZ3

UniProtKB/Swiss-Prot:

EDAD_HUMAN :
  • Contains 1 death domain.
Domain:
  • Contains 1 death domain.
genes like me logo Genes that share domains with EDARADD: view

No data available for Gene Families for EDARADD Gene

Function for EDARADD Gene

Molecular function for EDARADD Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for EDARADD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with EDARADD: view
genes like me logo Genes that share phenotypes with EDARADD: view

Human Phenotype Ontology for EDARADD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EDARADD Gene

Localization for EDARADD Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDARADD Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDARADD gene
Compartment Confidence
cytosol 5
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for EDARADD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with EDARADD: view

Pathways & Interactions for EDARADD Gene

genes like me logo Genes that share pathways with EDARADD: view

Gene Ontology (GO) - Biological Process for EDARADD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0033209 tumor necrosis factor-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with EDARADD: view

No data available for SIGNOR curated interactions for EDARADD Gene

Transcripts for EDARADD Gene

Unigene Clusters for EDARADD Gene

EDAR-associated death domain:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDARADD Gene

No ASD Table

Relevant External Links for EDARADD Gene

GeneLoc Exon Structure for
EDARADD
ECgene alternative splicing isoforms for
EDARADD

Expression for EDARADD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EDARADD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDARADD Gene

This gene is overexpressed in Bladder (x6.7) and Stomach (x4.6).

Protein differential expression in normal tissues from HIPED for EDARADD Gene

This gene is overexpressed in Breast (51.9) and Fetal heart (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EDARADD Gene



Protein tissue co-expression partners for EDARADD Gene

NURSA nuclear receptor signaling pathways regulating expression of EDARADD Gene:

EDARADD

SOURCE GeneReport for Unigene cluster for EDARADD Gene:

Hs.352224

mRNA Expression by UniProt/SwissProt for EDARADD Gene:

Q8WWZ3-EDAD_HUMAN
Tissue specificity: Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis.
genes like me logo Genes that share expression patterns with EDARADD: view

Orthologs for EDARADD Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDARADD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDARADD 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EDARADD 34 35
  • 88.53 (n)
cow
(Bos Taurus)
Mammalia EDARADD 34 35
  • 86.03 (n)
mouse
(Mus musculus)
Mammalia Edaradd 34 16 35
  • 82.06 (n)
rat
(Rattus norvegicus)
Mammalia Edaradd 34
  • 80.88 (n)
oppossum
(Monodelphis domestica)
Mammalia EDARADD 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDARADD 34 35
  • 70.65 (n)
lizard
(Anolis carolinensis)
Reptilia EDARADD 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490133 34
  • 63.37 (n)
zebrafish
(Danio rerio)
Actinopterygii edaradd 34 35
  • 54.33 (n)
Species where no ortholog for EDARADD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDARADD Gene

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

Paralogs for EDARADD Gene

(3) SIMAP similar genes for EDARADD Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EDARADD: view

No data available for Paralogs for EDARADD Gene

Variants for EDARADD Gene

Sequence variations from dbSNP and Humsavar for EDARADD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121908116 Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940], Pathogenic 236,482,366(+) CTTAC(G/T)AGACG reference, missense
rs74315309 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) [MIM:614941], Pathogenic 236,482,455(+) ATGAC(A/G)AATTG reference, missense
VAR_064835 Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940]
rs397515575 Pathogenic 236,482,403(+) CACCC(-/AACGGT)GAAAA cds-indel
rs879255553 Pathogenic 236,409,275(+) ATATG(A/G)TAGGT splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for EDARADD Gene

Variant ID Type Subtype PubMed ID
dgv60n27 CNV gain 19166990
esv2666021 CNV deletion 23128226
esv2725418 CNV deletion 23290073
esv2725429 CNV deletion 23290073
esv2762227 CNV gain 21179565
esv2763410 CNV gain 21179565
esv28853 CNV gain 19812545
esv3548900 CNV deletion 23714750
esv3548911 CNV deletion 23714750
dgv591n100 CNV gain 25217958
dgv303n106 CNV deletion 24896259
dgv104e199 CNV deletion 23128226
nsv958712 CNV deletion 24416366
nsv820827 CNV deletion 20802225
nsv549403 CNV gain 21841781
nsv549402 CNV loss 21841781
nsv549401 CNV loss 21841781
nsv549394 CNV gain 21841781
nsv516855 CNV gain 19592680
nsv477568 CNV novel sequence insertion 20440878
nsv159414 CNV deletion 16902084
nsv1147720 CNV deletion 26484159
nsv1142081 CNV tandem duplication 24896259
nsv1127065 CNV deletion 24896259
nsv1115041 CNV deletion 24896259
nsv1069423 CNV deletion 25765185
nsv1012436 CNV loss 25217958
nsv1005877 CNV gain 25217958
esv5800 CNV loss 19470904
esv3589220 CNV loss 21293372
esv3548922 CNV deletion 23714750

Variation tolerance for EDARADD Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.10; 38.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDARADD Gene

Human Gene Mutation Database (HGMD)
EDARADD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDARADD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDARADD Gene

Disorders for EDARADD Gene

MalaCards: The human disease database

(14) MalaCards diseases for EDARADD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
  • ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
  • ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
hypohidrotic ectodermal dysplasia autosomal recessive
  • anhidrotic ectodermal dysplasia, autosomal recessive
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant
  • ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
  • ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EDAD_HUMAN
  • 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. {ECO:0000269 PubMed:17354266, ECO:0000269 PubMed:20979233}. 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. {ECO:0000269 PubMed:11780064, ECO:0000269 PubMed:20222921}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EDARADD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDARADD
genes like me logo Genes that share disorders with EDARADD: view

No data available for Genatlas for EDARADD Gene

Publications for EDARADD Gene

  1. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. (PMID: 20222921) Chassaing N. … Calvas P. (Br. J. Dermatol. 2010) 3 4 22 64
  2. Gene defect in ectodermal dysplasia implicates a DEATH domain adapter in development. (PMID: 11780064) Headon D.J. … Overbeek P.A. (Nature 2001) 2 3 4 64
  3. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. (PMID: 20979233) Cluzeau C. … Smahi A. (Hum. Mutat. 2011) 3 4 64
  4. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. (PMID: 17354266) Bal E. … Smahi A. (Hum. Mutat. 2007) 4 22 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64

Products for EDARADD Gene

Sources for EDARADD Gene

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