DISEASES

Disease-gene associations mined from literature

Literature on PPP4R2

PPP4R2 [ENSP00000349124]

Serine/threonine-protein phosphatase 4 regulatory subunit 2; Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on 'Ser-140' (gamma-H2AFX) generated during DNA replication and required for DNA double strand break repair. Mediates RPA2 dephosphorylation by recruiting PPP4C to RPA2 in a DNA damage-dependent manner. RPA2 dephosphorylation is required for the efficient RPA2-mediated recruitment of RAD51 to chromatin following double strand breaks, an essential step for DNA repair.

Synonyms:  PPP4R2,  PPP4R2p,  hPPP4R2,  C9IZ04,  C9IZF4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM