Gene: GLI2

Alternate names for this Gene: CJS|HPE9|PHS2|THP1|THP2

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q14.2

Description of this Gene: GLI family zinc finger 2

Type of Gene: protein-coding

rs10192454 in GLI2 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1558937172 in GLI2 gene and CULLER-JONES SYNDROME PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

rs1553479405 in GLI2 gene and Dysmorphic features PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.

PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

rs1553477189 in GLI2 gene and Multiple congenital anomalies PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.

PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

rs1553471273 in GLI2 gene and Muscle hypotonia PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.

PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

rs121917708 in GLI2 gene and PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 17096318 2006 GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.