Ectodysplasin A2 receptor

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Ectodysplasin A2 receptor
Identifiers
Symbols EDA2R ; EDA-A2R; EDAA2R; TNFRSF27; XEDAR
External IDs OMIM300276 MGI2442860 HomoloGene11033 GeneCards: EDA2R Gene
RNA expression pattern
PBB GE EDA2R 221399 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 60401 245527
Ensembl ENSG00000131080 ENSMUSG00000034457
UniProt Q9HAV5 Q8BX35
RefSeq (mRNA) NM_001199687 NM_001161432
RefSeq (protein) NP_001186616 NP_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[edit]

  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. doi:10.1126/science.290.5491.523. PMID 11039935. 
  2. ^ a b "Entrez Gene: EDA2R ectodysplasin A2 receptor". 

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