PCID2

Chr 13

PCI domain containing 2

NCBI Gene: 55795 ENSG00000126226 UniProt: Q5JVF3

The protein encoded by this gene is a component of the TREX-2 complex that regulates mRNA export from the nucleus and stabilizes BRCA2 protein, while also controlling B-cell survival through regulation of cell-cycle checkpoint proteins. Mutations cause autosomal recessive primary immunodeficiency with defective B-cell differentiation and increased susceptibility to infections. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.08

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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