CYP2C8

Chr 10

cytochrome P450 family 2 subfamily C member 8

Also known as: CPC8, CYP2C8DM, CYPIIC8, MP-12/MP-20

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Drug metabolism, altered, CYP2C8-related}MIM #618018
2
Active trials
122
Pubs (1 yr)
P/LP submissions
P/LP missense
1.88
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.88LOEUF
pLI 0.000
Z-score -1.85
OE 1.46 (1.071.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.89Z-score
OE missense 1.16 (1.051.27)
299 obs / 258.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.46 (1.071.88)
00.351.4
Missense OE?1.16 (1.051.27)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 28 / 19.2Missense obs/exp: 299 / 258.8Syn Z: 0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CYP2C8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.