MAPK4

Chr 18

mitogen-activated protein kinase 4

Also known as: ERK-4, ERK4, PRKM4, p63-MAPK, p63MAPK

NCBI Gene: 5596 ENSG00000141639 UniProt: P31152 OMIM: 176949

Mitogen-activated protein kinase 4 is an atypical MAP kinase that phosphorylates microtubule-associated protein 2 and forms regulatory complexes with MAPKAPK5, potentially promoting cell cycle entry. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity. This gene is highly constrained against loss-of-function variants, suggesting intolerance to functional disruption.

OMIM ResearchSummary from RefSeq, UniProt

Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.52

LOEUF

Multiple*

Mechanism· predicted