CAMK2A

Chr 5

calcium/calmodulin dependent protein kinase II alpha

Also known as: CAMKA, CaMKIINalpha, CaMKIIalpha, MRD53, MRT63

NCBI Gene: 815 ENSG00000070808 UniProt: Q9UQM7

CAMK2A encodes the alpha subunit of calcium/calmodulin-dependent protein kinase II, which is essential for hippocampal long-term potentiation and spatial learning through calcium-dependent and autophosphorylation-mediated signaling at glutamatergic synapses. Mutations cause intellectual developmental disorder that can be inherited in either autosomal dominant or autosomal recessive patterns. The protein's critical role in synaptic plasticity explains why loss-of-function mutations lead to cognitive impairment.

ResearchSummary from RefSeq, OMIM, UniProt

The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 53

UniProtIntellectual developmental disorder, autosomal recessive 63

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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