MARK2

Chr 11

microtubule affinity regulating kinase 2

Also known as: EMK-1, EMK1, MRD76, PAR-1, Par-1b, Par1b

NCBI Gene: 2011 ENSG00000072518 UniProt: Q7KZI7

This gene encodes a serine/threonine protein kinase that regulates cell polarity in epithelial and neuronal cells and controls microtubule stability through phosphorylation of microtubule-associated proteins including tau. Mutations cause autosomal dominant intellectual developmental disorder with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.156), reflecting its essential role in neuronal migration, neurite outgrowth, and establishment of neuronal polarity.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 76

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

0.16

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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