Ectodysplasin A2 receptor

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

EDA2R
Identifiers
AliasesEDA2R, EDA-A2R, EDAA2R, TNFRSF27, XEDAR, ectodysplasin A2 receptor
External IDsOMIM: 300276 MGI: 2442860 HomoloGene: 11033 GeneCards: EDA2R
Orthologs
SpeciesHumanMouse
Entrez

60401

245527

Ensembl

ENSG00000131080

ENSMUSG00000034457

UniProt

Q9HAV5

Q8BX35

RefSeq (mRNA)

NM_001161432
NM_001161433
NM_175540

RefSeq (protein)

NP_001154904
NP_001154905
NP_780749

Location (UCSC)Chr X: 66.6 – 66.64 MbChr X: 96.38 – 96.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. GRCh38: Ensembl release 89: ENSG00000131080 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000034457 - 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. 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. Bibcode:2000Sci...290..523Y. doi:10.1126/science.290.5491.523. PMID 11039935.
  6. "Entrez Gene: EDA2R ectodysplasin A2 receptor".

Further reading


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