Gene: CSNK2A1

Alternate names for this Gene: CK2A1|CKII|Cka1|Cka2|OCNDS

Gene Summary: Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20p13

Description of this Gene: casein kinase 2 alpha 1

Type of Gene: protein-coding

rs869312845 in CSNK2A1 gene and Dysmorphic features PMID 27048600 2016 De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

PMID 21761202 2011 Predominance of CK2α over CK2α' in the mammalian brain.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 24395637 2014 Presynaptic CK2 promotes synapse organization and stability by targeting Ankyrin2.

PMID 29240241 2018 Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

PMID 17954558 2008 The alpha catalytic subunit of protein kinase CK2 is required for mouse embryonic development.

rs6037828 in CSNK2A1 gene and Fetal hemoglobin determination PMID 18245381 2008 Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

rs869312840 in CSNK2A1 gene and OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME PMID 27048600 2016 De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

rs74448913 in CSNK2A1 gene and Sleep Onset Latency PMID 27126917 2016 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study.