MAPK8IP2

Chr 22

mitogen-activated protein kinase 8 interacting protein 2

Also known as: IB-2, IB2, JIP2, PRKM8IPL

NCBI Gene: 23542 ENSG00000008735 UniProt: Q13387

This gene encodes JIP2, a scaffold protein that organizes components of the JNK signaling pathway and regulates vesicle transport through interactions with JNK signaling components and motor proteins. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures, developmental delay, and motor dysfunction. The gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 2017]

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)

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P/LP submissions

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P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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