CAMK2G

Chr 10

calcium/calmodulin dependent protein kinase II gamma

Also known as: CAMK, CAMK-II, CAMKG, MRD59

NCBI Gene: 818 ENSG00000148660 UniProt: Q13555

CAMK2G encodes the gamma subunit of calcium/calmodulin-dependent protein kinase II, which regulates calcium signaling, synaptic plasticity, and neurite formation in the central nervous system. Mutations cause autosomal dominant intellectual developmental disorder. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.24), indicating that even heterozygous disruption can cause disease.

ResearchSummary from RefSeq, OMIM, UniProt

The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 59

Clinical highlights

Gene-disease validity (ClinGen)

intellectual developmental disorder 59 · ADLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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