GLI2

Description

The GLI2 (GLI family zinc finger 2) is a protein-coding gene located on chromosome 2.

GLI2 is a transcription factor encoded by the GLI2 gene. It belongs to the Gli family of zinc finger proteins, which are characterized by their ability to bind DNA through conserved zinc finger motifs. GLI2 is involved in the Sonic hedgehog (Shh) signaling pathway and is implicated as an oncogene in embryonal carcinoma cells. It localizes to the cytoplasm and activates the expression of the patched Drosophila homolog (PTCH) gene. GLI2 has four isoforms: Gli2 alpha, beta, gamma, and delta. Both Gli2 and Gli3 have C-terminal activator and N-terminal repressor regions.

GLI2 acts as a transcription regulator in the Hedgehog (Hh) signaling pathway. It primarily functions as a transcriptional activator, but can also act as a repressor. GLI2 requires STK36 for its full transcriptional activator activity and plays a crucial role in normal embryonic development.

GLI2 is also known as CJS, HPE9, PHS2, THP1, THP2.

Associated Diseases

• Culler-Jones syndrome
• Septopreoptic holoprosencephaly
• Combined pituitary hormone deficiencies, genetic forms
• Microform holoprosencephaly
• Semilobar holoprosencephaly
• Alobar holoprosencephaly
• Midline interhemispheric variant of holoprosencephaly
• Lobar holoprosencephaly
• Holoprosencephaly 9