Details for Gene GLI2

GENE NAME GLI2
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000074047
UNIPROT ACCESSION NUMBER P10070
GO MOLECULAR FUNCTION ['zinc ion binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'sequence-specific double-stranded DNA binding', 'sequence-specific DNA binding', 'protein binding', 'DNA-binding transcription factor activity', 'promoter-specific chromatin binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04340; hsa04390; hsa05200; hsa05217; R-HSA-162582; R-HSA-212436; R-HSA-5358351; R-HSA-5610783; R-HSA-5610787; R-HSA-5632684; R-HSA-5635851; R-HSA-73857; R-HSA-74160; R-HSA-8878166; R-HSA-8941284; R-HSA-8941326; hsa04340; hsa04390; hsa05200; hsa05217
16 combinations linked to GLI2 OLI344; OLI1746; OLI575; OLI1558; OLI1524; OLI1159; OLI1554; OLI599; OLI1170; OLI1659; OLI1530; OLI1169; OLI1537; OLI1525; OLI1511; OLI347
14 variants linked to GLI2 GLI2:c.845+10G>A, ; GLI2:c.4611C>T, p.Leu1537=; GLI2:c.4333C>T, p.Leu1445Phe; GLI2:c.4198G>T, p.Gly1400Cys; GLI2:c.4558G>A, p.Asp1520Asn; GLI2:c.553G>T, p.Gly185Cys; GLI2:c.4464G>T, p.Lys1488Phe; GLI2:c.1289C>G, p.Ala430Gly; GLI2:c.3528G>T, p.Gln1176His; GLI2:c.2294-4G>A, ; GLI2:c.4661C>T, p.Pro1554Leu; GLI2:c.445A>G, p.Ser149Gly; GLI2:c.1811A>C, p.His604Pro; GLI2:c.1859C>T, p.Thr620Met
5 diseases linked to GLI2 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development; Bardet-Biedl syndrome; Disorder of sex development; Kallmann syndrome
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