MAPK7

Chr 17

mitogen-activated protein kinase 7

Also known as: BMK1, ERK4, ERK5, PRKM7

NCBI Gene: 5598 ENSG00000166484 UniProt: Q13164

MAPK7 encodes a MAP kinase that regulates gene expression by phosphorylating transcription factors in response to extracellular signals, playing important roles in cell proliferation, differentiation, survival, and endothelial function. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, seizures, and cerebral atrophy, typically presenting in early infancy. The gene is highly constrained against loss-of-function variants, indicating that complete loss of MAPK7 function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

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

—

P/LP missense

0.61

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429