KICS2

Chr 12AR

KICSTOR subunit 2

Also known as: C12orf66, MRT83

NCBI Gene: 144577ENSG00000174206UniProt: Q96MD2OMIM: 617420

The KICSTOR complex component KICS2 functions in amino acid sensing and negatively regulates mTORC1 signaling at the lysosome by recruiting the GATOR1 complex to lysosomal membranes. Mutations cause autosomal recessive intellectual developmental disorder. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.548).

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.551 OMIM phenotype
Clinical Summary— KICS2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.55LOEUF
pLI 0.442
Z-score 2.75
OE 0.21 (0.10–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.51Z-score
OE missense 0.73 (0.65–0.82)
180 obs / 247.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.21 (0.10–0.55)
0≤0.351.4
Missense OE0.73 (0.65–0.82)
0≤0.61.4
Synonymous OE0.83
0≤1.21.6
LoF obs/exp: 3 / 14.2Missense obs/exp: 180 / 247.0Syn Z: 1.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KICS2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients