Disease relevance of CSNK1G2

• 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 [1].

High impact information on CSNK1G2

• Cloning and chromosomal mapping of human casein kinase I gamma 2 (CSNK1G2) [2].
• 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 [2].
• 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 [1].

Biological context of CSNK1G2

• 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) [2].

Anatomical context of CSNK1G2

• 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 [1].

Analytical, diagnostic and therapeutic context of CSNK1G2

• To obtain an insertion-free CSNK1G2 cDNA, PCR cloning was performed based on the above sequence [2].

References