CAMK2G

CAMK2G (Calcium/Calmodulin Dependent Protein Kinase II Gamma) is a Protein Coding gene. Diseases associated with CAMK2G include Timothy Syndrome and Exudative Vitreoretinopathy. Among its related pathways are RET signaling and N-cadherin signaling events. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is CAMK2B.

Full Name

Calcium/Calmodulin Dependent Protein Kinase II Gamma

Function

Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca2+/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca2+ transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca2+ transport and in fast-twitch muscle participates in the control of Ca2+ release from the SR through phosphorylation of the ryanodine receptor-coupling factor triadin. In the central nervous system, it is involved in the regulation of neurite formation and arborization (PubMed:30184290).
It may participate in the promotion of dendritic spine and synapse formation and maintenance of synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning.

Biological Process

Cell differentiation Source: UniProtKB-KW
Insulin secretion Source: UniProtKB
Interferon-gamma-mediated signaling pathway Source: Reactome
Nervous system development Source: UniProtKB-KW
Regulation of calcium ion transport Source: UniProtKB
Regulation of cellular response to heat Source: Reactome
Regulation of neuron projection development Source: UniProtKB
Regulation of skeletal muscle adaptation Source: UniProtKB

Cellular Location

Sarcoplasmic reticulum membrane

Involvement in disease

Intellectual developmental disorder, autosomal dominant 59 (MRD59): An autosomal dominant form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

PTM

Autophosphorylation of Thr-287 following activation by Ca2+/calmodulin. Phosphorylation of Thr-287 locks the kinase into an activated state.