BCCIP

Chr 10

BRCA2 and CDKN1A interacting protein

Also known as: TOK-1, TOK1

NCBI Gene: 56647 ENSG00000107949 UniProt: Q9P287 OMIM: 611883

BCCIP encodes a nuclear protein that functions as a cofactor for BRCA2 in DNA homologous recombination repair and regulates microtubule organization and spindle pole stability during cell division. Mutations cause an autosomal recessive neurodevelopmental disorder with microcephaly, intellectual disability, and growth retardation. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, UniProt

This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.78

Clinical Summary— BCCIP

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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