DISEASES

Disease-gene associations mined from literature

Literature on CSNK1G2

CSNK1G2 [ENSP00000255641]

Casein kinase I isoform gamma-2; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degradation, thus inhibiting SMAD3-mediated TGF-beta responses. Hyperphosphorylation of the serine- repeat motif of COL4A3BP/CERT leads to its inactivation by dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis. Triggers PER1 proteasomal degradation probably through phosphorylation. ECO:0000269|PubMed:15917222, ECO:0000269|PubMed:18794808,

Synonyms:  CSNK1G2,  CSNK1G2p,  hCSNK1G2,  A0A087WW97,  A0A087WWF5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM