KPTN
Chr 19ARkaptin, actin binding protein
Also known as: 2E4, KICS4, MRT41
This gene encodes a filamentous-actin-associated protein that functions as part of the KICSTOR complex to regulate mTORC1 signaling at lysosomes in response to amino acid availability. Mutations cause autosomal recessive intellectual developmental disorder (intellectual developmental disorder, autosomal recessive 41). The gene shows low constraint against loss-of-function variants (pLI near 0), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
252 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 | 12 | 0 | 11 | 0 | 23 |
Likely Pathogenic | 8 | 2 | 3 | 0 | 13 |
VUS | 5 | 99 | 13 | 1 | 118 |
Likely Benign | 0 | 4 | 23 | 34 | 61 |
Benign | 0 | 1 | 10 | 6 | 17 |
Conflicting | — | 9 | |||
| Total | 25 | 106 | 60 | 41 | 241 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KPTN · 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