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Aliases for EDARADD Gene

Aliases for EDARADD Gene

  • EDAR-Associated Death Domain 2 3
  • 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 hypohidrotic ectodermal dysplasia, autosomal and ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive. Among its related pathways are Immune System and Interleukin receptor SHC signaling.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EDARADD Gene

Chromosome:
1
Start:
236,348,262 bp from pter
End:
236,484,914 bp from pter
Size:
136,653 bases
Orientation:
Plus strand

Genomic View for EDARADD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for EDARADD Gene at MOPED

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDARADD

In Situ Assay 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.

Gene Ontology (GO) - Cellular Components for EDARADD Gene

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

No data available for Subcellular locations from COMPARTMENTS for EDARADD Gene

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:0001942 hair follicle development IEA --
GO:0007165 signal transduction --
GO:0030154 cell differentiation IEA --
GO:0033209 tumor necrosis factor-mediated signaling pathway TAS --
GO:0042475 odontogenesis of dentin-containing tooth IEA --
genes like me logo Genes that share ontologies with EDARADD: view

No data available for SIGNOR curated interactions for EDARADD Gene

Drugs & Compounds for EDARADD Gene

No Compound Related Data Available

Transcripts for EDARADD Gene

mRNA/cDNA for EDARADD Gene

Unigene Clusters for EDARADD Gene

EDAR-associated death domain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDARADD

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 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, MOPED, and MaxQB for EDARADD Gene



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

Protein tissue co-expression partners for EDARADD Gene

Primer Products

In Situ Assay Products

Orthologs for EDARADD Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDARADD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EDARADD 35
  • 86.03 (n)
  • 83.84 (a)
EDARADD 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EDARADD 35
  • 88.53 (n)
  • 88.84 (a)
EDARADD 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Edaradd 35
  • 82.06 (n)
  • 80.71 (a)
Edaradd 16
Edaradd 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Edaradd 35
  • 80.88 (n)
  • 82.74 (a)
oppossum
(Monodelphis domestica)
Mammalia EDARADD 36
  • 52 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EDARADD 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDARADD 35
  • 70.65 (n)
  • 66.3 (a)
EDARADD 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDARADD 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490133 35
  • 63.37 (n)
  • 59.37 (a)
zebrafish
(Danio rerio)
Actinopterygii edaradd 35
  • 54.33 (n)
  • 50.28 (a)
edaradd 36
  • 40 (a)
OneToOne
Species with no ortholog for EDARADD:
  • 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 MAF
rs581722 -- 236,417,296(-) TGATG(C/T)TTCTA intron-variant
rs582003 -- 236,440,173(-) accac(A/G)taaat intron-variant
rs582169 -- 236,435,684(-) CAATA(C/T)CTTCA intron-variant
rs582666 -- 236,435,808(-) TCCCA(C/T)GTATT intron-variant
rs583922 -- 236,439,737(-) tatct(A/G)aaata intron-variant

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

Variant ID Type Subtype PubMed ID
dgv551n71 CNV Gain 21882294
dgv104e199 CNV Deletion 23128226
esv2725418 CNV Deletion 23290073
esv2666021 CNV Deletion 23128226
nsv820827 CNV Deletion 20802225
esv28853 CNV Gain 19812545
esv2725429 CNV Deletion 23290073
esv5800 CNV Loss 19470904
nsv159414 CNV Loss 16902084
nsv516855 CNV Gain 19592680
dgv60n27 CNV Gain 19166990

Variation tolerance for EDARADD Gene

Residual Variation Intolerance Score: 44.83% 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

HapMap Linkage Disequilibrium report
EDARADD
Human Gene Mutation Database (HGMD)
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

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. A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD. (PMID: 20477971) Suda N. … Moriyama K. (Orthod Craniofac Res 2010) 23 67
  2. A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. (PMID: 20033817) Moya-Quiles M.R. … GuillAcn-Navarro E. (Arch. Dermatol. Res. 2010) 23 67
  3. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. (PMID: 20222921) Chassaing N. … Calvas P. (Br. J. Dermatol. 2010) 23 67
  4. From ectodermal dysplasia to selective tooth agenesis. (PMID: 19504606) Mues G.I. … D'Souza R. (Am. J. Med. Genet. A 2009) 23 67
  5. Conserved features and evolutionary shifts of the EDA signaling pathway involved in vertebrate skin appendage development. (PMID: 18304980) Pantalacci S. … Laudet V. (Mol. Biol. Evol. 2008) 23 67

Products for EDARADD Gene

Sources for EDARADD Gene

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