ANAPC2

Chr 9

anaphase promoting complex subunit 2

Also known as: APC2

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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.17
Clinical SummaryANAPC2
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.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.17LOEUF
pLI 1.000
Z-score 5.25
OE 0.06 (0.020.17)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.41Z-score
OE missense 0.70 (0.650.77)
371 obs / 526.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.06 (0.020.17)
00.351.4
Missense OE0.70 (0.650.77)
00.61.4
Synonymous OE1.20
01.21.6
LoF obs/exp: 2 / 36.0Missense obs/exp: 371 / 526.9Syn Z: -2.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ANAPC2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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