GENE NAME | NOS2 |
CHROMOSOME | 17 |
ENSEMBL ID | ENSG00000007171 |
ENTREZ ID | 4843 |
UNIPROT ACCESSION NUMBER | P35228 |
GO MOLECULAR FUNCTION | protein binding; FMN binding; nitric-oxide synthase activity; heme binding; tetrahydrobiopterin binding; arginine binding; flavin adenine dinucleotide binding; NADP binding; metal ion binding; calmodulin binding; oxidoreductase activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-9635486; hsa05010; hsa05145; R-HSA-9636249; R-HSA-9637687; hsa01100; hsa05146; R-HSA-1222556; R-HSA-109582; R-HSA-1643685; R-HSA-9637690; hsa00330; hsa05152; R-HSA-168249; R-HSA-9033241; R-HSA-168256; R-HSA-9609507; hsa05222; hsa00220; hsa04066; R-HSA-418346; hsa04371; R-HSA-392154; hsa05142; R-HSA-5663205; hsa05133; hsa05140; hsa05200; R-HSA-449147; hsa05022; hsa04020; R-HSA-6785807; hsa04146; hsa04926; hsa05014; R-HSA-1280215 |
2 combinations linked to NOS2 | OLI742; OLI723 |
2 variants linked to NOS2 | NOS2:c.1516C>T, p.Arg506Trp; NOS2:c.1893C>A, p.Tyr631Ter |
1 disease linked to NOS2 | Isolated anencephaly |