GLI2 Chromosome 2
GLI family zinc finger 2
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What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
2q14.2
Ensembl
ENSG00000074047
Associated Conditions (15)
Holoprosencephaly 9
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2-related disorder
Inborn genetic diseases
Anophthalmia-microphthalmia syndrome
Bardet-Biedl syndrome
Holoprosencephaly 1
Intellectual disability
Male infertility with azoospermia or oligozoospermia due to single gene mutation
See cases
Craniosynostosis syndrome
Microform holoprosencephaly
Developmental disorder
Cerebellar cyst
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Key Variants
RS1016718367
Conflicting classifications of pathogenicity
Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
Health Risk
RS1318325355
Conflicting classifications of pathogenicity
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Health Risk
RS1345329176
Conflicting classifications of pathogenicity
Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
Health Risk
RS138191075
Conflicting classifications of pathogenicity
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, GLI2-related disorder
Health Risk
RS139473153
Conflicting classifications of pathogenicity
Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
Health Risk
RS1418648944
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141988240
Conflicting classifications of pathogenicity
Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
Health Risk
RS142775128
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Health Risk
RS143914758
Conflicting classifications of pathogenicity
Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
Health Risk
RS145778937
Conflicting classifications of pathogenicity
Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
Health Risk
RS146181686
Conflicting classifications of pathogenicity
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, GLI2-related disorder
Health Risk
RS146944207
Conflicting classifications of pathogenicity
Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
Health Risk
All Variants (124)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1683184393 | Health Risk | Pathogenic | — |
| RS1683230082 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS2104696745 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS2105084620 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS2105084665 | Health Risk | Pathogenic | — |
| RS2105085199 | Health Risk | Pathogenic | Cerebellar cyst, Cerebellar cyst |
| RS2467020343 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS2467686698 | Health Risk | Pathogenic | GLI2-related disorder, GLI2-related disorder |
| RS2467749474 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2467766888 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS2467768078 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS2467768738 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS2467770120 | Health Risk | Pathogenic | Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9 |
| RS2467778927 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS374155310 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS398122882 | Health Risk | Pathogenic | Holoprosencephaly 9, Holoprosencephaly 9 |
| RS587777455 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS587777456 | Health Risk | Pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| RS747870569 | Health Risk | Pathogenic | Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9 |
| RS763165545 | Health Risk | Pathogenic | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS869312965 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS876661324 | Health Risk | Pathogenic | Microform holoprosencephaly, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9 |
| RS1553476382 | Health Risk | Pathogenic/Likely pathogenic | Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, GLI2-related disorder |
| RS1683184865 | Health Risk | Pathogenic/Likely pathogenic | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |