PRRC2C

Chr 1

proline rich coiled-coil 2C

Also known as: BAT2-iso, BAT2D1, BAT2L2, XTP2

NCBI Gene: 23215 ENSG00000117523 UniProt: Q9Y520

The PRRC2C protein binds RNA and is required for efficient formation of stress granules in the cytosol during cellular stress responses. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and developmental delay, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Involved in stress granule assembly. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

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

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P/LP missense

0.12

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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