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CYP3A4

From SNPedia

is agene
is mentioned by
Full namecytochrome P450, family 3, subfamily A, polypeptide 4
Other namesCYP3A
EntrezGene1576
PheGenI1576
VariationViewer1576
ClinVarCYP3A4
dbSNP1576
SADR1576
HugeNav1576
CYPANCcyp3a4
wikipediaCYP3A4
googleCYP3A4
gopubmedCYP3A4
EVSCYP3A4
HEFalMpCYP3A4
MyGene2CYP3A4
23andMeCYP3A4
UniProtP08684
EnsemblENSG00000160868
OMIM124010
# SNPs29
 Max MagnitudeChromosome positionSummary
rs1041988099,760,943
rs12721627099,768,470
rs127216292.599,762,177
rs12721634099,784,038
rs2242480099,763,843
rs224670999,768,096
rs2740574299,784,473
rs28371759099,764,003
rs3091339099,772,622
rs3208361099,768,447
rs3208363099,767,175
rs35599367099,768,693
rs45614732099,762,177
rs4646437099,767,460
rs4646438099,766,411
rs4646440099,763,247
rs4986907099,769,804
rs4986908099,769,769
rs4986909099,762,047
rs4986910099,760,901
rs4986913099,760,836
rs4987161099,768,458
rs55785340099,768,360
rs55901263099,768,371
rs55951658099,770,202
rs56324128099,778,079
rs67666821599,758,183CYP3A4 variant affecting acetaminophen, codeine and other medicines
rs67784355099,762,206
rs72552799099,770,165

The wikipedia article on CYP3A4 is a good resource to learn about the many drugs and chemicals that the protein encoded by this gene metabolizes. CYP3A4 is the most abundant detoxifying enzyme in the liver, and is responsible for helping to break down perhaps 60% of all known drugs. It also has an important role in the breakdown of testosterone.

One of the best known consequences of interfering with CYP3A4 function comes from the consequences of drinking grapefruit juice while taking medications metabolized by CYP3A4. Grapefruit juice inhibits the action of CYP3A4, which results in a higher concentration of many drugs within the body. This can have both positive and negative medical consequences. Wiki article OMIM

CYP3A4 is quite strongly conserved, and although some variants have been described, the in vivo activities of most corresponding proteins have not been shown to be different from wild-type CYP3A4*1. One variant that is actually nonfunctional, CYP3A4*20, is exceedingly rare (rs67666821).[PMID 16580902]

CYP3A4 is also located quite close to CYP3A5, and so some effects thought to be due to a CYP3A4 allele may actually due to a linked CYP3A5 allele. [1]

In African American males, CYP3A4 variation rs2740574 is associated with a ~10 fold higher risk of prostate cancer being of an aggressive form. [PMID 16414488]


CYP3A4 alleles and variants include the following:

Allele Name Rs# Comments Platforms
CYP3A4*1 n/a Actually a family of >18 "sub" alleles, with minor variations
CYP3A4*1B rs2740574 23andMe v1, 23andMe v2, 23andMe v3, HumanOmni1Quad, 23andMe v4, Ancestry v2
CYP3A4*2 rs55785340 Also known as S222P 23andMe v3, 23andMe v4, Ancestry v2
CYP3A4*3 rs4986910 Also known as M445T 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4
CYP3A4*4 rs55951658 Also known as I118V 23andMe v3, 23andMe v4
CYP3A4*5 rs55901263 Also known as P218R 23andMe v3, 23andMe v4, Ancestry v2
CYP3A4*6 rs4646438 Frameshift; likely to be of lower activity Ancestry v2
CYP3A4*7 rs56324128 Also known as G56D 23andMe v3, Ancestry v2
CYP3A4*8 rs72552799 Also known as R130Q Ancestry v2
CYP3A4*11 rs67784355 Also known as T363M 23andMe v3, 23andMe v4, Ancestry v2
CYP3A4*12 rs12721629 Also known as L373F; formerly known as rs45614732 HumanOmni1Quad, Illumina Human 1M, Ancestry v2
CYP3A4*13 rs4986909 Also known as P416L 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP3A4*14 rs12721634 Also known as L15P 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP3A4*15A rs4986907 Also known as R162Q 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4
CYP3A4*16 rs12721627 Also known as T185S 23andMe v2, 23andMe v3, 23andMe v4
CYP3A4*17 rs4987161 Also known as F189S 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4
CYP3A4*18 rs28371759 Also known as L293P 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP3A4*19 rs4986913 Also known as P467S 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4
CYP3A4*20 rs67666821 Nonfunctional; known as 1461_1462insA
CYP3A4*_11460A>G(K96E) rs3091339 23andMe v1, 23andMe v2, 23andMe v3, Illumina Human 1M, 23andMe v4
CYP3A4*_14313G>A(E174H) rs4986908 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4
CYP3A4*_15635A>G(I193V) rs3208361 23andMe v1, 23andMe v2, 23andMe v3, Illumina Human 1M, 23andMe v4
CYP3A4*_16907T>G(S252A) rs3208363 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4
CYP3A4*_20239G>A rs2242480 23andMe v1, 23andMe v3, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP3A4*_23139T>C(I431T) rs1041988 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2