| GENE NAME | NOTCH3 |
| CHROMOSOME | 19 |
| ENSEMBL ID | ENSG00000074181 |
| ENTREZ ID | 4854 |
| UNIPROT ACCESSION NUMBER | Q9UM47 |
| GO MOLECULAR FUNCTION | calcium ion binding; protein binding; enzyme binding; identical protein binding; signaling receptor activity; cadherin binding |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa05200; R-HSA-350054; R-HSA-74160; R-HSA-9013508; R-HSA-162582; R-HSA-1912399; R-HSA-1912408; hsa04330; hsa05165; R-HSA-3906995; hsa04658; hsa05224; R-HSA-1912422; R-HSA-9012852; hsa04371; R-HSA-9013507; R-HSA-212436; hsa01522; hsa05206; R-HSA-1643685; R-HSA-3781865; R-HSA-9017802; R-HSA-5668914; hsa04919; R-HSA-157118; R-HSA-1912420; R-HSA-5083630; R-HSA-73857 |
| 4 combinations linked to NOTCH3 | OLI002; OLI1044; OLI003; OLI004 |
| 4 variants linked to NOTCH3 | NOTCH3:c.181C>T, p.Arg61Trp; NOTCH3:c.1964A>G, p.Asn655Ser; NOTCH3:c.6532C>T, p.Pro2178Ser; NOTCH3:c.2791A>G, p.Ser931Gly |
| 2 diseases linked to NOTCH3 | Primary ovarian failure; Idiopathic pulmonary arterial hypertension |