Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.11.1 (protein kinase)
 81,284 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A clone of immature cDNA for human casein kinase I gamma 2 (CSNK1G2) was isolated by screening the human testis cDNA library with a PCR-amplified probe (about 400 bp) representing the kinase domain of rat casein kinase I gamma 2 (CKI gamma 2). Comparison of the entire sequence with that of rat CKI gamma 2 showed that the cDNA contained the complete coding sequence of CKI gamma 2 as well as an intron-like sequence of 1006 bp, part of which was homologous to the Alu sequence. To obtain an insertion-free CSNK1G2 cDNA, PCR cloning was performed based on the above sequence. The amplified 1687-bp fragment was subcloned and sequenced. The predicted amino acid sequence consisted of 416 residues, 94% of which were identical to that of the rat homologue. Although there are two Src homology 3 (SH3) domain-binding motifs (Pro-X-X-Pro consensus), Pro-Lys-Val-Pro and Pro-Ser-Glu-Pro in the C-terminal region of rat CKI gamma 2, only the latter was conserved in the human counterpart. This finding suggests that the latter motif is important for binding to the signal transduction adaptor protein Nck (NCK). The human CSNK1G2 gene was mapped to chromosome 19p13.3 by fluorescence in situ hybridization and PCR analysis of the human/rodent hybrid cell panel.
 ...
PMID:Cloning and chromosomal mapping of human casein kinase I gamma 2 (CSNK1G2). 940 68

Casein kinase I gamma 2 isoform (CSNK1G2), a member of the large casein kinase I (CKI) family, may affect the development of brain, and associate with vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Based on our previous linkage analysis data that mapped our simple febrile seizures (FS) families to 19p13.3 and the function of CSNK1G2 in this region, CSNK1G2 was chosen as a candidate gene for FS. All of the 13 exons and their flanking introns of the CSNK1G2 gene were amplified and sequenced, and 10 single nucleotide polymorphisms (SNPs) were found. Using the three SNPs we found as markers, we conducted association studies in 60 FS patients and 101 normal controls. Allele and genotype frequencies of the SNPs IVS2-33C > T and 837C > T as well as the haplotype of the two SNPs were significantly different between FS patients and controls (P < 0.05). This study suggests that CSNK1G2 gene may be a susceptibility gene for FS in the northern Chinese Han population.
 ...
PMID:Polymorphisms of casein kinase I gamma 2 gene associated with simple febrile seizures in Chinese Han population. 1534 22

Casein kinases are a large family of intracellular serine/threonine kinases that control a variety of cellular signaling functions. Here we report that a member of casein kinase 1 family, casein kinase 1G2, CSNK1G2, binds and inhibits the activation of receptor-interacting kinase 3, RIPK3, thereby attenuating RIPK3-mediated necroptosis. The binding of CSNK1G2 to RIPK3 is triggered by auto-phosphorylation at serine 211/threonine 215 sites in its C-terminal domain. CSNK1G2-knockout mice showed significantly enhanced necroptosis response and premature aging of their testis, a phenotype that was rescued by either double knockout of the Ripk3 gene or feeding the animal with a RIPK1 kinase inhibitor-containing diet. Moreover, CSNK1G2 is also co-expressed with RIPK3 in human testis, and the necroptosis activation marker phospho-MLKL was observed in the testis of old (>80) but not young men, indicating that the testis-aging program carried out by the RIPK3-mediated and CSNK1G2-attenuated necroptosis is evolutionarily conserved between mice and men.
 ...
PMID:Casein kinase 1G2 suppresses necroptosis-promoted testis aging by inhibiting receptor-interacting kinase 3. 3320 46