Ectodysplasin A2 receptor

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Ectodysplasin A2 receptor

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

Quick Facts EDA2R, Identifiers ...
EDA2R
Identifiers
AliasesEDA2R, EDA-A2R, EDAA2R, TNFRSF27, XEDAR, ectodysplasin A2 receptor
External IDsOMIM: 300276; MGI: 2442860; HomoloGene: 11033; GeneCards: EDA2R; OMA:EDA2R - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr X: 96.38 – 96.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Close

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

Further reading

Loading related searches...

Wikiwand - on

Seamless Wikipedia browsing. On steroids.