Gene: CAMKK2

Alternate names for this Gene: CAMKK|CAMKKB

Gene Summary: The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: calcium/calmodulin dependent protein kinase kinase 2

Type of Gene: protein-coding

rs3794205 in CAMKK2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29358691 2018 Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

rs1169809 in CAMKK2 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.