Details for Gene GLI3

GENE NAME GLI3
CHROMOSOME 7
ENSEMBL ID None
ENTREZ ID ENSG00000106571
UNIPROT ACCESSION NUMBER P10071
GO MOLECULAR FUNCTION ['chromatin binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'beta-catenin binding', 'metal ion binding', 'histone acetyltransferase binding', 'sequence-specific double-stranded DNA binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'mediator complex binding', 'protein binding', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding', 'histone deacetylase binding', 'DNA-binding transcription factor activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04024; hsa04340; hsa05200; hsa05217; R-HSA-162582; R-HSA-212436; R-HSA-5358351; R-HSA-5610785; R-HSA-5610787; R-HSA-5632684; R-HSA-5635851; R-HSA-73857; R-HSA-74160; R-HSA-8878166; R-HSA-8940973; R-HSA-8941326
17 combinations linked to GLI3 OLI428; OLI344; OLI602; OLI348; OLI1516; OLI1321; OLI1530; OLI1574; OLI1571; OLI1576; OLI420; OLI1350; OLI1379; OLI1409; OLI346; OLI1343; OLI1537
16 variants linked to GLI3 GLI3:c.1028+15G>A, ; GLI3:c.1843A>T, p.Thr615Ser; GLI3:c.674C>T, p.Thr225Ile; GLI3:c.3015C>T, p.Ala1005=; GLI3:c.341G>A, p.Arg114Lys; GLI3:c.245G>A, p.Arg82Lys; GLI3:c.1029-6G>A, ; GLI3:c.1954C>A, p.Pro652Thr; GLI3:c.1930G>A, p.Gly644Arg; GLI3:c.3286G>A, p.Val1096Met; GLI3:c.1161del, p.Pro388GlnfsTer13; GLI3:c.1285C>G, p.Pro429Ala; GLI3:c.1527G>C, p.Glu509Asp; GLI3:c.3935T>G, p.Met1312Arg; GLI3:c.1393G>C, p.Gly465Arg; GLI3:c.2179G>A, p.Gly727Arg
7 diseases linked to GLI3 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development; Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Disorder of sex development; Kallmann syndrome
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