Aliases for GLI2 Gene
External Ids for GLI2 Gene
Previous GeneCards Identifiers for GLI2 Gene
This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
GeneCards Summary for GLI2 Gene
GLI2 (GLI Family Zinc Finger 2) is a Protein Coding gene. Diseases associated with GLI2 include Culler-Jones Syndrome and Holoprosencephaly 9. Among its related pathways are Signaling events mediated by the Hedgehog family and Hippo signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is GLI3.
UniProtKB/Swiss-Prot Summary for GLI2 Gene
Functions as transcription regulator in the hedgehog (Hh) pathway (PubMed:18455992, PubMed:26565916). Functions as transcriptional activator (PubMed:9557682, PubMed:19878745, PubMed:24311597). May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development (PubMed:15994174, PubMed:20685856).
Isoform 1, isoform 2, isoform 3 and isoform 4: Act as transcriptional activators in T-cell leukemia virus type 1 (HTLV-1)-infected cells in a Tax-dependent manner. Bind to the DNA sequence 5'-GAACCACCCA-3' which is part of the Tax-responsive element (TRE-2S) regulatory element that augments the Tax-dependent enhancer of HTLV-1 (PubMed:9557682). Are involved in the smoothened (SHH) signaling pathway (PubMed:18455992).
[Isoform 5]: Acts as a transcriptional repressor.