GENE NAME | SOD2 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000112096 |
ENTREZ ID | 6648 |
UNIPROT ACCESSION NUMBER | P04179 |
GO MOLECULAR FUNCTION | oxygen binding; manganese ion binding; enzyme binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04211; R-HSA-9614085; R-HSA-1643685; R-HSA-9020591; hsa04068; R-HSA-1592230; R-HSA-9645723; R-HSA-168256; R-HSA-8862803; hsa04213; R-HSA-73857; R-HSA-1280215; R-HSA-212436; R-HSA-8863678; R-HSA-447115; R-HSA-9615017; R-HSA-74160; R-HSA-1852241; R-HSA-2262752; R-HSA-449147; R-HSA-8953897; hsa04146; R-HSA-2151201; R-HSA-8950505; hsa05016; R-HSA-3299685 |
1 combination linked to SOD2 | OLI747 |
1 variant linked to SOD2 | SOD2:c.201G>C, p.Glu67Asp |
1 disease linked to SOD2 | Isolated anencephaly |