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Open Access Articles- Top Results for Ectodysplasin A2 receptor

Ectodysplasin A2 receptor

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Identifiers
SymbolsEDA2R ; EDA-A2R; EDAA2R; TNFRSF27; XEDAR
External IDsOMIM300276 MGI2442860 HomoloGene11033 IUPHAR: 1896 GeneCards: EDA2R Gene
RNA expression pattern
File:PBB GE EDA2R 221399 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez60401245527
EnsemblENSG00000131080ENSMUSG00000034457
UniProtQ9HAV5Q8BX35
RefSeq (mRNA)NM_001199687NM_001161432
RefSeq (protein)NP_001186616NP_001154904
Location (UCSC)Chr X:
65.82 – 65.86 Mb
Chr X:
97.33 – 97.38 Mb
PubMed search[1][2]

Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene.[1][2]

EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Multiple alternatively spliced transcript variants have been found for this gene, but some variants lack sufficient support.[2]


References

  1. ^ Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM (Oct 2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science 290 (5491): 523–7. PMID 11039935. doi:10.1126/science.290.5491.523. 
  2. ^ a b "Entrez Gene: EDA2R ectodysplasin A2 receptor". 

Further reading

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External links

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