MAPK11

Chr 22

mitogen-activated protein kinase 11

Also known as: P38B, P38BETA2, PRKM11, SAPK2, SAPK2B, p38-2, p38Beta

NCBI Gene: 5600 ENSG00000185386 UniProt: Q15759

The protein is a serine/threonine kinase that functions as an essential component of the p38 MAP kinase signaling pathway, regulating cellular responses to inflammatory cytokines and environmental stress through phosphorylation of transcription factors and other downstream targets. MAPK11 is highly tolerant to loss-of-function variation (LOEUF 0.79), and no Mendelian diseases have been definitively associated with mutations in this gene to date. The gene's tolerance to variation suggests that if pathogenic variants are identified in the future, they would likely be very rare.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.79

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)