PIK3R5
Chr 17ARphosphoinositide-3-kinase regulatory subunit 5
Also known as: F730038I15Rik, FOAP-2, P101-PI3K, p101
The PIK3R5 protein is the 101 kD regulatory subunit of phosphoinositide 3-kinase gamma that recruits the catalytic subunit to the plasma membrane through interaction with G protein beta-gamma dimers, enabling G protein-mediated signaling pathways involved in cell growth and survival. Mutations cause ataxia-oculomotor apraxia 3, which follows autosomal recessive inheritance and primarily affects cerebellar and oculomotor systems. The gene is highly constrained against loss-of-function variation (LOEUF 0.391), indicating intolerance to protein-disrupting mutations.
Disputed — evidence questions this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
215 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 | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 120 | 4 | 0 | 124 |
Likely Benign | 0 | 6 | 3 | 16 | 25 |
Benign | 0 | 2 | 7 | 9 | 18 |
Conflicting | — | 4 | |||
| Total | 0 | 128 | 24 | 25 | 181 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PIK3R5 · 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