DISEASES

Disease-gene associations mined from literature

Literature associating NOTCH2 and pilocytic astrocytoma of cerebellum

NOTCH2 [ENSP00000256646]

Neurogenic locus notch homolog protein 2; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation. Positively regulates self-renewal of liver cancer cells.

Synonyms:  NOTCH2,  NOTCH2p,  hNOTCH2,  D2WEZ3,  DKFZP434N181 ...

Linkouts:  STRING  Pharos  UniProt  OMIM