APC2
Chr 19ARAPC regulator of WNT signaling pathway 2
APC2 encodes a component of the anaphase-promoting complex that regulates cell cycle progression by targeting specific proteins like mitotic cyclins for degradation through ubiquitination. Biallelic mutations cause autosomal recessive intellectual developmental disorder and complex cortical dysplasia with other brain malformations. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.23), consistent with its essential role in cell division.
Strong evidence — appropriate for clinical testing
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
APC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools