FNIP2
Chr 4folliculin interacting protein 2
Also known as: FNIPL, MAPO1
The protein functions as a binding partner of folliculin (FLCN) that regulates cellular responses to amino acid availability through mTORC1 signaling and acts as a co-chaperone for HSP90, inhibiting its ATPase activity to activate client proteins. Mutations cause neurodevelopmental disorders with intellectual disability and epilepsy, typically with early childhood onset. This gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.13) and follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
FNIP2 · 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