ITFG2
Chr 12integrin alpha FG-GAP repeat containing 2
Also known as: FGGAP1, KICS3, MDS028
The ITFG2 protein functions as part of the KICSTOR complex to recruit the GATOR1 complex to lysosomal membranes and negatively regulate mTORC1 signaling in response to amino acid and glucose availability. Mutations cause autosomal recessive developmental delay, intellectual disability, and growth retardation, with features often apparent in early childhood. This gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
301 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 | 60 | 0 | 60 |
Likely Pathogenic | 1 | 0 | 3 | 0 | 4 |
VUS | 0 | 195 | 5 | 0 | 200 |
Likely Benign | 0 | 10 | 1 | 1 | 12 |
Benign | 0 | 2 | 1 | 1 | 4 |
| Total | 1 | 207 | 70 | 2 | 280 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ITFG2 · 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