EDARADD

EDARADD
Identifiers
Aliases	EDARADD, ECTD11A, ECTD11B, ED3, EDA3, EDAR-associated death domain, EDAR associated death domain
External IDs	OMIM: 606603; MGI: 1931001; HomoloGene: 15430; GeneCards: EDARADD; OMA:EDARADD - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q42.3-q43 Start 236,348,257 bp End 236,502,915 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13 A1|13 4.77 cM Start 12,487,513 bp End 12,535,319 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans sural nerve testicle gonad olfactory zone of nasal mucosa body of stomach skin of abdomen mucosa of esophagus granulocyte skin of leg Top expressed in hair follicle Rostral migratory stream conjunctival fornix medullary collecting duct epithelium of lens pharynx iris condyle fossa vestibular sensory epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm cytosol Biological process multicellular organism development cell differentiation tumor necrosis factor-mediated signaling pathway signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 128178 171211 Ensembl ENSG00000186197 ENSMUSG00000095105 UniProt Q8WWZ3 Q8VHX2 Q5D0F1 RefSeq (mRNA) NM_145861 NM_080738 NM_133643 RefSeq (protein) NP_542776 NP_665860 NP_598398 Location (UCSC) Chr 1: 236.35 – 236.5 Mb Chr 13: 12.49 – 12.54 Mb PubMed search
Wikidata
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Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the EDARADD gene.

Function

This gene was identified by its association with ectodermal dysplasia, and specifically with hypohidrotic 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.

Interactions

EDARADD has been shown to interact with TRAF2.

Further reading

• Thesleff I, Mikkola ML (May 2002). "Death receptor signaling giving life to ectodermal organs". Science's STKE. 2002 (131): pe22. doi:10.1126/stke.2002.131.pe22. PMID 11997580. S2CID 36068881.
• Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM (March 2002). "Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice". Current Biology. 12 (5): 409–13. Bibcode:2002CBio...12..409Y. doi:10.1016/S0960-9822(02)00687-5. PMID 11882293. S2CID 9911697.
• Kumar A, Eby MT, Sinha S, Jasmin A, Chaudhary PM (January 2001). "The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A". The Journal of Biological Chemistry. 276 (4): 2668–77. doi:10.1074/jbc.M008356200. PMID 11035039.
• Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, Jorgenson R, Zonana J (July 1997). "Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder". American Journal of Human Genetics. 61 (1): 94–100. doi:10.1086/513905. PMC 1715866. PMID 9245989.

External links

• GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia