Ectodysplasin A2 receptor

From Wikipedia, the free encyclopedia
Jump to: navigation, search
EDA2R
Identifiers
Aliases EDA2R, EDA-A2R, EDAA2R, TNFRSF27, XEDAR, ectodysplasin A2 receptor
External IDs MGI: 2442860 HomoloGene: 11033 GeneCards: EDA2R
Gene location (Human)
X chromosome (human)
Chr. X chromosome (human)[1]
X chromosome (human)
Genomic location for EDA2R
Genomic location for EDA2R
Band Xq12 Start 66,595,637 bp[1]
End 66,639,298 bp[1]
RNA expression pattern
PBB GE EDA2R 221399 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001161432
NM_001161433
NM_175540

RefSeq (protein)

NP_001154904
NP_001154905
NP_780749

Location (UCSC) Chr X: 66.6 – 66.64 Mb Chr X: 97.33 – 97.38 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene.[5][6]

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.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000131080 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034457 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ a b "Entrez Gene: EDA2R ectodysplasin A2 receptor". 

Further reading[edit]

External links[edit]