KICS2

KICSTOR subunit 2, formerly C12orf66

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000174206
OMIM:: 617420
Synonyms:: C12ORF66, FLJ32549

Phenotypes

Human ciliopathy phenotype:: Bi-allelic variants in KICS2 cause intellectual disability and epilepsy (11 affected individuals).

Ciliopathy associations

Intellectual Developmental Disorder with Epilepsy

References: PMID:39824192

Subcellular localization

Lysosomes, Cytokinetic bridge

References: PMID:39824192

Functional category

Motile cilium & axoneme
Ciliary assembly/disassembly
Cilia–cytoskeleton/adhesion links

Function

Component of KICSTOR complex regulating mTORC1 in response to nutrient deprivation. Variants compromise KICSTOR complex formation and impact mTORC1 proteome including ciliogenesis-related proteins. Kics2 depletion in zebrafish causes ciliary dysfunction (Buchert et al. 2025, PMID 39824192).

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