Disease-gene associations mined from literature

Literature associating WDR82 and Kleefstra syndrome 2

WDR82 [ENSP00000296490]

WD repeat-containing protein 82; Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes. Facilitates histone H3 'Lys-4' methylation via recruitment of the SETD1A or SETD1B to the 'Ser-5' phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase; WD repeat domain containing

Synonyms:  WDR82,  WDR82p,  hWDR82,  A0A024R333,  C9J355 ...

Linkouts:  STRING  Pharos  UniProt  OMIM