CYP2J2 allelic variations in humans known to have changes in activity in vitro
Currently only a variation in the CYP2J2*7 allele has been shown to have associations with disease.
| Allele | cDNA/Gene | Enzyme Activity in Vitro | Association with Disease | References |
|---|---|---|---|---|
| CYP2J2*2 | 427A>G | Reduced AA and LA metabolism | No known association with disease | King et al. (2002) |
| CYP2J2*3 | 472C>T | Reduced AA and LA metabolism | No known association with disease | King et al. (2002) |
| CYP2J2*4 | 575T>A | Reduced AA metabolism | No known association with disease | King et al. (2002) |
| CYP2J2*5 | 1024G>A | Produced wild type levels of AA and LA metabolites | No known association with disease | King et al. (2002) |
| CYP2J2*6 | 1210A>T | Reduced AA and LA metabolism | No known association with disease | King et al. (2002) |
| CYP2J2*7 | −50G>T | Reduced transcription due to loss of Sp1 binding site | Type 2 diabetes Alzheimer disease, coronary artery disease, Ischemic stroke | King et al. (2002); Spiecker et al. (2004); Wang et al. (2010, 2017); Zhu et al. (2013); Yan et al. (2015) |
| CYP2J2*8 | 934G>A | Complete loss of enzymatic activity | No known association with disease | Lee et al. (2005) |
| CYP2J2*9 | 1052C>T | Enzymatic activity comparable to wild type | No known association with disease | Lee et al. (2005) |
| CYP2J2*10 | 344C>T | Reduced function protein | No known association with disease | Gaedigk et al. (2006) |
AA, arachidonic acid; LA, linoleic acid.
Adapted from Berlin et al. (2011).