DISEASES

Disease-gene associations mined from literature

Literature associating TMEM47 and brain ependymoma

TMEM47 [ENSP00000275954]

Transmembrane 4 superfamily member 10; Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin (By similarity); Belongs to the TMEM47 family.

Synonyms:  TMEM47,  TMEM47p,  hTMEM47,  A0A024RBY7,  Q9BQJ4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM