CAMK4

Chr 5

calcium/calmodulin dependent protein kinase IV

Also known as: CaMK IV, CaMK-GR, CaMKIV, caMK

NCBI Gene: 814 ENSG00000152495 UniProt: Q16566 OMIM: 114080

CAMK4 encodes a calcium/calmodulin-dependent protein kinase that phosphorylates transcription factors including CREB1, MEF2D, and JUN to regulate gene expression in immune cells and neurons, particularly contributing to memory consolidation and hippocampal long-term potentiation. Mutations cause intellectual disability and developmental delay with autosomal recessive inheritance. The gene shows significant constraint against loss-of-function variants (LOEUF 0.47), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)