CSNK1G2
Description
The CSNK1G2 (casein kinase 1 gamma 2) is a protein-coding gene located on chromosome 19.
CSNK1G2 encodes a serine/threonine-protein kinase that belongs to the casein kinase I family. These kinases are characterized by their preference for acidic proteins, such as caseins, as substrates. CSNK1G2 exhibits a broad range of phosphorylation targets, playing a role in various cellular processes. It is involved in Wnt signaling, where it phosphorylates proteins like COL4A3BP/CERT, MTA1, and SMAD3. Phosphorylation of SMAD3 promotes its degradation via the ubiquitin-proteasome pathway, thus inhibiting TGF-beta signaling. Hyperphosphorylation of COL4A3BP/CERT leads to its inactivation and dissociation from the Golgi complex, impairing the transport of ceramide and sphingomyelin from the endoplasmic reticulum to the Golgi apparatus. CSNK1G2 also triggers the proteasomal degradation of PER1 through phosphorylation. Additionally, it plays a role in brain development, vesicular trafficking, and neurotransmitter release from synaptic vesicles, regulating fast synaptic transmission mediated by glutamate. Furthermore, CSNK1G2 is implicated in the regulation of reactive oxygen species (ROS) levels.
CSNK1G2 is also known as CK1g2.
Associated Diseases
- endometrial cancer
- obesity due to congenital leptin deficiency
- obesity due to leptin receptor gene deficiency
- Kallmann syndrome
- spermatogenic failure 28
- congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- 46,XY sex reversal 1
- congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- Leydig cell hypoplasia
- 46,XY partial gonadal dysgenesis
- retinitis pigmentosa and erythrocytic microcytosis
- hypogonadotropic hypogonadism 23 with or without anosmia
