EDARADD

Protein-coding gene in the species Homo sapiens
EDARADD
Identifiers
AliasesEDARADD, ECTD11A, ECTD11B, ED3, EDA3, EDAR-associated death domain, EDAR associated death domain
External IDsOMIM: 606603; MGI: 1931001; HomoloGene: 15430; GeneCards: EDARADD; OMA:EDARADD - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for EDARADD
Genomic location for EDARADD
Band1q42.3-q43Start236,348,257 bp[1]
End236,502,915 bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for EDARADD
Genomic location for EDARADD
Band13 A1|13 4.77 cMStart12,487,513 bp[2]
End12,535,319 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • islet of Langerhans

  • sural nerve

  • body of stomach

  • skin of abdomen

  • body of pancreas

  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • urinary bladder

  • fundus

  • minor salivary glands
Top expressed in
  • hair follicle

  • conjunctival fornix

  • medullary collecting duct

  • pharynx

  • iris

  • condyle

  • fossa

  • urethra

  • skin of back

  • lacrimal gland
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
SpeciesHumanMouse
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 MbChr 13: 12.49 – 12.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the EDARADD gene.[5][6]

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.[6]

Interactions

EDARADD has been shown to interact with TRAF2.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186197 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000095105 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA (Jan 2002). "Gene defect in ectodermal dysplasia implicates a death domain adapter in development". Nature. 414 (6866): 913–6. doi:10.1038/414913a. PMID 11780064. S2CID 4380080.
  6. ^ a b "Entrez Gene: EDARADD EDAR-associated death domain".
  7. ^ 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.

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


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