CAMK2A

CAMK2A (Calcium/Calmodulin Dependent Protein Kinase II Alpha) is a Protein Coding gene. Diseases associated with CAMK2A include Mental Retardation, Autosomal Dominant 53 and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are RET signaling and Salivary secretion. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is CAMK2D.

Full Name

Calcium/Calmodulin Dependent Protein Kinase II Alpha

Function

Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca2+/calmodulin-binding and autophosphorylation, and is involved in synaptic plasticity, neurotransmitter release and long-term potentiation. Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity).
Regulates dendritic spine development (PubMed:28130356).
Also regulates the migration of developing neurons (PubMed:29100089).
Phosphorylates the transcription factor FOXO3 to activate its transcriptional activity (PubMed:23805378).
Acts as a negative regulator of 2-arachidonoylglycerol (2-AG)-mediated synaptic signaling via modulation of DAGLA activity (By similarity).

Biological Process

Angiotensin-activated signaling pathway Source: UniProtKB
Calcium ion transport Source: ParkinsonsUK-UCL
Dendritic spine development Source: UniProtKB
G1/S transition of mitotic cell cycle Source: ParkinsonsUK-UCL
Interferon-gamma-mediated signaling pathway Source: Reactome
MAPK cascade Source: Reactome
Negative regulation of hydrolase activity Source: UniProtKB
Peptidyl-serine phosphorylation Source: ParkinsonsUK-UCL
Peptidyl-threonine autophosphorylation Source: UniProtKB
Positive regulation of calcium ion transport Source: ParkinsonsUK-UCL
Positive regulation of cardiac muscle cell apoptotic process Source: ParkinsonsUK-UCL
Positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
Protein autophosphorylation Source: ParkinsonsUK-UCL
Protein phosphorylation Source: UniProtKB
Regulation of cellular response to heat Source: Reactome
Regulation of endocannabinoid signaling pathway Source: UniProtKB
Regulation of mitochondrial membrane permeability involved in apoptotic process Source: ParkinsonsUK-UCL
Regulation of neuronal synaptic plasticity Source: ParkinsonsUK-UCL
Regulation of neuron migration Source: UniProtKB
Regulation of neurotransmitter secretion Source: ParkinsonsUK-UCL
Regulation of NMDA receptor activity Source: Reactome
Response to ischemia Source: ParkinsonsUK-UCL
Wnt signaling pathway, calcium modulating pathway Source: Reactome

Cellular Location

Synapse; Postsynaptic density; Dendritic spine; Dendrite. Postsynaptic lipid rafts.

Involvement in disease

Mental retardation, autosomal dominant 53 (MRD53): A 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.
Mental retardation, autosomal recessive 63 (MRT63): A 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. MRT63 patients manifest global developmental delay, severe intellectual disability, and seizures.

PTM

Autophosphorylation of Thr-286 following activation by Ca2+/calmodulin. Phosphorylation of Thr-286 locks the kinase into an activated state.
Palmitoylated. Probably palmitoylated by ZDHHC3 and ZDHHC7.