ITFG2

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Description

The ITFG2 (integrin alpha FG-GAP repeat containing 2) is a protein-coding gene located on chromosome 12.

ITFG2, as part of the KICSTOR complex, plays a crucial role in the amino acid-sensing branch of the TORC1 signaling pathway. It acts independently of amino acid levels to recruit the GATOR1 complex to lysosomal membranes, facilitating its interaction with GATOR2 and the RAG GTPases. This upstream function of ITFG2 is essential for negatively regulating mTORC1 signaling in the absence of amino acids. Without the KICSTOR complex, mTORC1 becomes constitutively localized to the lysosome and activated. Additionally, the KICSTOR complex likely participates in the regulation of mTORC1 by glucose.

ITFG2 is also known as FGGAP1, KICS3, MDS028.

Associated Diseases

• common variable immunodeficiency
• isolated agammaglobulinemia
• severe combined immunodeficiency due to CARD11 deficiency
• schizophrenia
• immunodeficiency 72 with autoinflammation
• BENTA disease
• immunodeficiency 105
• bipolar disorder
• immunodeficiency 18
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• T-B+ severe combined immunodeficiency due to JAK3 deficiency
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• short-limb skeletal dysplasia with severe combined immunodeficiency