SOD2
superoxide dismutase 2
Summary
This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs528798367 | 6:160,097,106 | A/G | — | — |
| rs4342445 | 6:160,098,222 | G/A | regulatory region variant | — |
| rs6917589 | 6:160,099,260 | T/C | 3 prime UTR variant | — |
| rs2842980 | 6:160,100,116 | A/C | — | — |
| rs7855 | 6:160,100,302 | A/G | 3 prime UTR variant | — |
| rs8031 | 6:160,100,640 | A/T | 3 prime UTR variant | — |
| rs5746151 | 6:160,101,320 | C/T | regulatory region variant | — |
| rs10370 | 6:160,101,532 | T/G | regulatory region variant | — |
| rs5746136 | 6:160,103,084 | C/A | — | — |
| rs5746134 | 6:160,103,115 | G/C | — | — |
| rs1188104649 | 6:160,103,538 | G/A | — | uncertain significance |
| rs1780005831 | 6:160,103,561 | C/A | — | uncertain significance |
| rs1395235141 | 6:160,103,563 | C/T | — | uncertain significance |
| rs557996027 | 6:160,103,615 | A/G | — | likely benign |
| rs564741623 | 6:160,103,644 | C/T | — | uncertain significance |
| rs1469862592 | 6:160,103,652 | C/A | — | uncertain significance |
| rs2758331 | 6:160,105,070 | C/A | intron variant | — |
| rs372335332 | 6:160,105,942 | C/T | — | likely benign |
| rs376398472 | 6:160,105,985 | C/A | — | uncertain significance |
| rs2483036718 | 6:160,105,997 | C/A | — | uncertain significance |
| rs372173830 | 6:160,106,010 | C/G | — | uncertain significance |
| rs530833676 | 6:160,106,038 | T/A | — | uncertain significance |
| rs143582231 | 6:160,106,042 | G/A | — | uncertain significance |
| rs756111347 | 6:160,106,044 | T/A | — | uncertain significance |
| rs1047426562 | 6:160,106,063 | C/G | — | uncertain significance |
| rs2758332 | 6:160,106,088 | C/A | intron variant | — |
| rs2855116 | 6:160,106,125 | A/C | intron variant | — |
| rs11575993 | 6:160,109,251 | G/A | missense variant | — |
| rs1141718 | 6:160,109,256 | A/G | missense variant | — |
| rs2483050524 | 6:160,109,271 | T/A | — | uncertain significance |
| rs200264201 | 6:160,113,703 | C/T | — | benign |
| rs2483068728 | 6:160,113,737 | T/G | — | uncertain significance |
| rs763954620 | 6:160,113,788 | G/C | — | uncertain significance |
| rs375884951 | 6:160,113,806 | A/T | — | uncertain significance |
| rs4880 | 6:160,113,872 | A/G | missense variant | risk factor |
| rs5746092 | 6:160,114,311 | G/C | regulatory region variant | — |
| rs2758343 | 6:160,114,572 | G/A | — | — |
| rs2758346 | 6:160,115,421 | C/T | regulatory region variant | — |
| rs4516970 | 6:160,137,687 | G/A | regulatory region variant | — |
| rs919548295 | 6:160,161,829 | G/T | — | — |
| rs573550973 | 6:160,162,002 | G/A | — | — |
| rs78795459 | 6:160,162,618 | G/A | intron variant | — |
| rs190928513 | 6:160,180,342 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.