MAPRE2

Chr 18

microtubule associated protein RP/EB family member 2

Also known as: CSCSC2, EB1, EB2, RP1

NCBI Gene: 10982 ENSG00000166974 UniProt: Q15555

The MAPRE2 protein stabilizes microtubules and anchors them at centrosomes, ensuring proper mitotic progression and genome stability, and plays roles in neurite growth and cell migration. Mutations cause symmetric circumferential skin creases, congenital, type 2 through autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants (LOEUF 0.406), indicating that complete protein loss is likely incompatible with normal development.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSkin creases, congenital symmetric circumferential, 2

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.41

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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