Gene: GLI3

Alternate names for this Gene: ACLS|GCPS|GLI3-190|GLI3FL|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV

Gene Summary: This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.1

Description of this Gene: GLI family zinc finger 3

Type of Gene: protein-coding

rs2237422 in GLI3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057520063 in GLI3 gene and Greig cephalopolysyndactyly syndrome PMID 26508445 2016 GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

PMID 24736735 2015 New insights into genotype-phenotype correlation for GLI3 mutations.

PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

PMID 27231705 2016 Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.

PMID 15739154 2005 Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

PMID 12414818 2002 De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

PMID 9302279 1997 Point mutations in human GLI3 cause Greig syndrome.

PMID 12794692 2003 Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.

PMID 10441342 1999 Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

PMID 10441570 1999 The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

rs10269139 in GLI3 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs10279985 in GLI3 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs3801203 in GLI3 gene and Memory performance PMID 28577822 2017 Genome-wide association study of language performance in Alzheimer's disease.

rs1057520063 in GLI3 gene and Pallister-Hall syndrome PMID 24736735 2015 New insights into genotype-phenotype correlation for GLI3 mutations.

PMID 26508445 2016 GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

PMID 27231705 2016 Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.

PMID 15739154 2005 Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

PMID 10441570 1999 The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

rs1057518698 in GLI3 gene and Polydactyly, Postaxial, Type A1 PMID 9354785 1997 Mutation in GLI3 in postaxial polydactyly type A.

PMID 28315472 2017 Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

PMID 10441570 1999 The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

rs2108166 in GLI3 gene and Primary biliary cirrhosis PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

rs1060499558 in GLI3 gene and Ulnar polydactyly of fingers PMID 28315472 2017 Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

rs2051935 in GLI3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.