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NOTCH2 - notch receptor 2
- Synonym(s) :
- Previous symbols and names : Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila), notch 2
- Type : gene with protein product
- Chromosomal location : 1p12
- OMIM: 600275
- HGNC: 7882
- UniProtKB: Q04721
- Genatlas: NOTCH2
- GenCC: NOTCH2
- Ensembl: ENSG00000134250
- IUPHAR-DB: 2859
- Reactome: Q04721
- LOVD: NOTCH2
Diseases list
- Disease-causing germline mutation(s) in Alagille syndrome due to a NOTCH2 point mutation
ORPHA:261629 
- Disease-causing germline mutation(s) (gain of function) in Hajdu-Cheney syndrome
ORPHA:955
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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