CYB5R2
cytochrome b5 reductase 2
Summary
The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373511090 | 11:7,686,679 | G/C | — | uncertain significance |
| rs143187886 | 11:7,686,684 | G/A | — | uncertain significance |
| rs779602178 | 11:7,686,714 | G/A | — | uncertain significance |
| rs754894803 | 11:7,686,727 | G/C | — | uncertain significance |
| rs2494708414 | 11:7,686,738 | A/T | — | uncertain significance |
| rs759545270 | 11:7,686,748 | C/T | — | uncertain significance |
| rs767960968 | 11:7,686,750 | G/A | — | uncertain significance |
| rs201223930 | 11:7,686,773 | C/G | — | uncertain significance |
| rs2494726744 | 11:7,687,724 | C/T | — | uncertain significance |
| rs144320715 | 11:7,687,738 | G/A | — | uncertain significance |
| rs1290002446 | 11:7,687,759 | C/T | — | uncertain significance |
| rs752935765 | 11:7,689,002 | T/C | — | uncertain significance |
| rs1444952171 | 11:7,689,715 | C/T | — | uncertain significance |
| rs768539470 | 11:7,689,766 | T/C | — | uncertain significance |
| rs148127253 | 11:7,690,457 | G/A | — | uncertain significance |
| rs1217154740 | 11:7,690,466 | G/T | — | uncertain significance |
| rs760467155 | 11:7,690,469 | C/T | — | uncertain significance |
| rs1225499249 | 11:7,690,489 | C/G | — | uncertain significance |
| rs747117625 | 11:7,690,495 | T/C | — | uncertain significance |
| rs7928127 | 11:7,691,329 | C/T | intron variant | — |
| rs2494793028 | 11:7,693,715 | G/C | — | uncertain significance |
| rs373643933 | 11:7,694,019 | T/A | — | uncertain significance |
| rs193208545 | 11:7,694,028 | G/T | — | uncertain significance |
| rs141959668 | 11:7,694,032 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.