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Description

Zinc finger protein GLI2 (UniProt: P10070, also known as GLI family zinc finger protein 2, Tax helper protein) is encoded by the Gli2 (also known as THP) gene (Gene ID: 2736) in human. Gli2 belongs to the family of Gli C2H2-type zinc-finger proteins and contains 5 C3H2-type zinc fingers. Its N-terminal domain confers transcriptional repressor activity, while the C-terminal domain mediates transcriptional activation. Transcriptional activity of Gli proteins is also regulated through its binding to Suppressor of Fu (Sufu), which is a negative regulator of Hedgehog signaling in Drosophila as well as in vertebrates. Sufu binds to all three Gli proteins with different affinities. Phosphorylation of Gli2 by DYRK2 is shown to block its transcriptional activity and promotes its proteasomal degradation. Gli2 is reported to be essential for normal embryonic development. Gli2 affects ventroposterior mesodermal development through its regulation of Wnt, Brachyury and Xhox3 gene families. Knockout studies have shown that Gli1 can compensate for Gli2, but replacement is not perfect and is context dependent. Gli2 null mice embryos develop neural tube defects and double knockout Gli1 and Gli2 mice display serious central nervous system and lung defects. Overexpression of Gli2 has been linked to tumorigenesis and can lead to basal cell carcinomas. Mutations in Gli2 gene have been linked to holoprosencephaly 9 that is characterized by failure of forebrain to correctly separate into right and left hemispheres. Gli2 gene mutations are also known to cause Culler-Jones syndrome that features pituitary dysfunction, syndactyly, hypothalamic hamartoma, and visceral malformations.