CAMK2B

Chr 7

calcium/calmodulin dependent protein kinase II beta

Also known as: CAM2, CAMK2, CAMKB, CaMKIIbeta, MRD54

NCBI Gene: 816 ENSG00000058404 UniProt: Q13554

The protein encodes the beta subunit of calcium/calmodulin-dependent protein kinase II, a serine/threonine kinase essential for calcium signaling and synaptic plasticity at glutamatergic synapses. Mutations cause autosomal dominant intellectual developmental disorder, autosomal dominant 54. The low LOEUF score (0.364) indicates the gene is highly intolerant to loss-of-function variants, suggesting haploinsufficiency as the likely pathogenic mechanism.

ResearchSummary from RefSeq, OMIM, UniProt

The product of this gene 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 beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 54

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

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P/LP missense

0.36

LOEUF

LOF*

Mechanism· G2P

Some data sources returned errors (1)

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