DISEASES

Disease-gene associations mined from literature

Literature associating DNAJC2 and Lynch syndrome 1

DNAJC2 [ENSP00000368565]

DnaJ homolog subfamily C member 2, N-terminally processed; Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb-repressed genes to an active state: specifically recruited at histone H2A ubiquitinated at 'Lys-119' (H2AK119ub), and promotes the displacement of the polycomb PRC1 complex from chromatin, thereby facilitating transcription activation. Specifically binds DNA sequence 5'-GTCAAGC-3'.

Synonyms:  DNAJC2,  DNAJC2p,  hDNAJC2,  C9IZ83,  F2Z3H0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM