PIK3C2G
Chr 12phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
Also known as: PI3K-C2-gamma, PI3K-C2GAMMA
The protein generates phosphatidylinositol 3-phosphate and phosphatidylinositol 3,4-bisphosphate that function as second messengers in cellular signaling pathways. Mutations cause autosomal recessive neurodevelopmental disorder with hypotonia, seizures, and brain atrophy, typically presenting in infancy. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance requiring biallelic mutations for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
340 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 4 | 39 | 0 | 46 |
Likely Pathogenic | 2 | 2 | 2 | 0 | 6 |
VUS | 2 | 232 | 12 | 2 | 248 |
Likely Benign | 1 | 11 | 5 | 5 | 22 |
Benign | 0 | 2 | 1 | 0 | 3 |
| Total | 8 | 251 | 59 | 7 | 325 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PIK3C2G · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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