ANAPC2

Chr 9

anaphase promoting complex subunit 2

Also known as: APC2

NCBI Gene: 29882 ENSG00000176248 UniProt: Q9UJX6 OMIM: 606946

The ANAPC2 protein is a core component of the anaphase-promoting complex (APC/C), an E3 ubiquitin ligase that controls cell cycle progression by targeting proteins for degradation during mitosis and G1 phase. Mutations cause autosomal dominant intellectual disability with microcephaly and growth retardation, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating that proper dosage is critical for normal development.

OMIM ResearchSummary from RefSeq, UniProt

A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.17

Clinical Summary— ANAPC2

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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