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GLI2 - GLI family zinc finger 2
- Synonym(s) : HPE9, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein, THP1, THP2
- Previous symbols and names : GLI-Kruppel family member GLI2, glioma-associated oncogene family zinc finger 2
- Type : gene with protein product
- Chromosomal location : 2q14.2
- OMIM: 165230
- HGNC: 4318
- UniProtKB: P10070
- Genatlas: GLI2
- GenCC: GLI2
- Ensembl: ENSG00000074047
- IUPHAR-DB: -
- Reactome: P10070
- LOVD: GLI2
Diseases list
- Disease-causing germline mutation(s) in Alobar holoprosencephaly
ORPHA:93925 
- Disease-causing germline mutation(s) in Combined pituitary hormone deficiencies, genetic forms
ORPHA:95494 - Disease-causing germline mutation(s) in Lobar holoprosencephaly
ORPHA:93924 - Disease-causing germline mutation(s) in Microform holoprosencephaly
ORPHA:280200 - Disease-causing germline mutation(s) in Midline interhemispheric variant of holoprosencephaly
ORPHA:93926 - Disease-causing germline mutation(s) in Semilobar holoprosencephaly
ORPHA:220386 - Disease-causing germline mutation(s) in Septopreoptic holoprosencephaly
ORPHA:280195 - Disease-causing germline mutation(s) (loss of function) in Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
ORPHA:420584
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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