CAMK2G

The CAMK2 protein kinases contain a unique C-terminal subunit association domain responsible for oligomerization.

Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity (PubMed:16690701). In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-coupling factor triadin (PubMed:16690701). 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. In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of STAT1, stimulating the JAK-STAT signaling pathway (By similarity).

Intellectual developmental disorder, autosomal dominant 59

MRD59

An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

None

The disease may be caused by variants affecting the gene represented in this entry.

Autophosphorylation of Thr-287 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-287 locks the kinase into an activated state.

Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.

Expressed in skeletal muscle.

• Sarcoplasmic reticulum membrane
• Peripheral membrane protein
• Cytoplasmic side

CAMK, CAMK-II, CAMKG, CAMK2G, Calcium/calmodulin-dependent protein kinase type II subunit gamma, CaM kinase II subunit gamma, CaMK-II subunit gamma

• entrezGene:818
• omim:602123
• swissprot:Q13555

Proteins

Neuroscience

62607Da