KICS2

Chr 12

KICSTOR subunit 2

Also known as: C12orf66, MRT83

NCBI Gene: 144577 ENSG00000174206 UniProt: Q96MD2

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).

ResearchSummary from RefSeq, OMIM, UniProt

Involved in several processes, including cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in intercellular bridge and lysosome. Part of KICSTOR complex. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 83

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.55

LOEUF

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Mechanism

Some data sources returned errors (1)

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