ITFG2

Chr 12

integrin alpha FG-GAP repeat containing 2

Also known as: FGGAP1, KICS3, MDS028

NCBI Gene: 55846 ENSG00000111203 UniProt: Q969R8

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.

GeneReviews ResearchSummary from RefSeq, UniProt

Involved in cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in Golgi apparatus and lysosomal membrane. Part of KICSTOR complex. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.95

LOEUF

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Mechanism

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