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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 is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]
CYP2C19 (Cytochrome P450 Family 2 Subfamily C Member 19) is a Protein Coding gene. Diseases associated with CYP2C19 include Drug Metabolism, Poor, Cyp2c19-Related and Voriconazole Toxicity. Among its related pathways are Cytochrome P450 - arranged by substrate type and Imipramine/Desipramine Pathway, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include enzyme binding and iron ion binding. An important paralog of this gene is CYP2C9.
Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane. CYPs have oxygenase activity.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH10J094762 | Promoter | 0.6 | EPDnew | 750.6 | 0.0 | -19 | 0.1 | SP1 YY1 HNF4A | CYP2C19 piR-59928-025 piR-45726-007 ENSG00000276490 | |
GH10J094775 | Promoter | 0.4 | EPDnew | 750.4 | +12.8 | 12789 | 0.1 | RXRA | MTND4P19 lnc-CYP2C8-5 piR-40348-009 piR-59928-026 CYP2C19 piR-33605-062 ENSG00000276490 | |
GH10J094842 | Promoter | 0.3 | EPDnew | 750.2 | +80.2 | 80226 | 0.1 | CYP2C19 piR-33142-004 CYP2C58P lnc-CYP2C8-4 ENSG00000276490 | ||
GH10J094761 | Enhancer | 0.2 | FANTOM5 | 750.6 | -0.8 | -808 | 0 | CYP2C19 piR-45726-007 ENSG00000276490 | ||
GH10J094679 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE | 15 | -80.3 | -80250 | 5.9 | FOXA1 NR2F6 CREB1 MIXL1 RAD21 ZBTB33 SP1 CEBPG SP7 HNF1A | CYP2C18 ACSM6 CYP2C19 MTND4P19 NOC3L CYP2C9 piR-33605-061 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IDA | 19651758 |
GO:0005506 | iron ion binding | IEA | -- |
GO:0008392 | arachidonic acid epoxygenase activity | IBA | 21873635 |
GO:0008395 | steroid hydroxylase activity | IMP | 18356043 |
GO:0016491 | oxidoreductase activity | IDA | 16401082 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0031090 | organelle membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Imipramine/Desipramine Pathway, Pharmacokinetics | ||
2 | Drug metabolism - cytochrome P450 | ||
3 | Cytochrome P450 - arranged by substrate type |
.39
.01
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4 | Statin Pathway - Generalized, Pharmacokinetics | ||
5 | Phenytoin Pathway, Pharmacokinetics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006082 | organic acid metabolic process | IBA | 21873635 |
GO:0006805 | xenobiotic metabolic process | TAS | -- |
GO:0008202 | steroid metabolic process | IMP | 18356043 |
GO:0016098 | monoterpenoid metabolic process | IDA | 16401082 |
GO:0017144 | drug metabolic process | IDA | 19219744 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Omeprazole | Approved, Investigational, Vet_approved | Pharma | Activator, Enzyme, substrate, inhibitor | H+,K+-ATPase inhibitor | 414 | |
Citalopram | Approved | Pharma | Enzyme, substrate, inhibitor | 573 | ||
Esomeprazole | Approved, Investigational | Pharma | Enzyme, substrate, inhibitor | Proton pump inhibitor | 396 | |
Fluvoxamine | Approved, Investigational | Pharma | Enzyme, inhibitor | 60 | ||
Imipramine | Approved | Pharma | Antagonist, Pore Blocker, Enzyme, substrate, inhibitor | 33 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
4'-Hydroxydiclofenac |
|
64118-84-9 | ||||
nadph |
|
53-57-6 | ||||
Paraxanthine |
|
611-59-6 | ||||
(-)-trans-Carveol |
|
1197-07-5 |
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|||
(R)-p-Mentha-1,8-dien-7-ol |
|
57717-97-2, 18457-55-1 |
|
Compound | Action | Cas Number |
---|---|---|
Anastrozole | Potent aromatase (CYP19) inhibitor | 120511-73-1 |
Exemestane | Steroidal aromatase (CYP19) inhibitor | 107868-30-4 |
Ketoconazole | Cytochrome P450c17 inhibitor | 65277-42-1 |
TMS | Cytochrome P450 1B1 inhibitor | 24144-92-1 |
YM 511 | Potent aromatase (CYP19) inhibitor | 148869-05-0 |
Compound | Action | Cas Number |
---|---|---|
8-Methoxypsoralen | CYP inhibitor | 298-81-7 |
Lansoprazole sodium | PPI/cytochrome P450 inhibitor | 226904-00-3 |
Omeprazole | H+,K+-ATPase inhibitor | 73590-58-6 |
YM 511 | 148869-05-0 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | LOC740956 32 |
|
||
CYP2C19 33 |
|
OneToOne | |||
rat (Rattus norvegicus) |
Mammalia | Cyp2c6v1 32 |
|
||
cow (Bos Taurus) |
Mammalia | CYP2C18 33 |
|
ManyToMany | |
CYP2C19 32 |
|
||||
CYP2C87 33 |
|
ManyToMany | |||
-- 33 |
|
ManyToMany | |||
-- 33 |
|
ManyToMany | |||
mouse (Mus musculus) |
Mammalia | Cyp2c65 33 |
|
ManyToMany | |
Cyp2c29 33 |
|
ManyToMany | |||
Cyp2c66 33 |
|
ManyToMany | |||
Cyp2c39 33 |
|
ManyToMany | |||
Cyp2c37 33 |
|
ManyToMany | |||
Cyp2c38 33 |
|
ManyToMany | |||
Cyp2c50 33 |
|
ManyToMany | |||
Cyp2c54 33 |
|
ManyToMany | |||
Cyp2c67 33 |
|
ManyToMany | |||
Cyp2c68 33 |
|
ManyToMany | |||
Cyp2c69 33 |
|
ManyToMany | |||
Cyp2c40 33 |
|
ManyToMany | |||
dog (Canis familiaris) |
Mammalia | CYP2C18 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
ManyToMany | |
-- 33 |
|
ManyToMany | |||
-- 33 |
|
ManyToMany | |||
-- 33 |
|
ManyToMany | |||
-- 33 |
|
ManyToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | Cyp18a1 34 |
|
|
|
Cyp303a1 34 |
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worm (Caenorhabditis elegans) |
Secernentea | B0213.11 34 |
|
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C12D5.7 34 |
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K09A11.2 34 |
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F44C8.1 34 |
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C49C8.4 34 |
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|
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Y49C4A.9 34 |
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F41B5.3 34 |
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K09A11.3 34 |
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B0304.3 34 |
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C45H4.2 34 |
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C45H4.17 34 |
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F41B5.7 34 |
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F41B5.4 34 |
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T10H4.10 34 |
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C41G6.1 34 |
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K09D9.2 34 |
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B0213.14 34 |
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T09H2.1 34 |
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F41B5.2 34 |
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R08F11.3 34 |
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T10H4.11 34 |
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B0213.16 34 |
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C34B7.3 34 |
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C49G7.8 34 |
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K05D4.4 34 |
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C03G6.15 34 |
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K07C6.2 34 |
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K07C6.3 34 |
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K07C6.5 34 |
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C25E10.2 34 |
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|
SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs111490789 | drug-response, CYP2C19: normal function, Citalopram response, Escitalopram response, Sertraline response, Voriconazole response | 94,760,686(+) | C/A | upstream_transcript_variant | |
rs113934938 | drug-response, CYP2C19: normal function, Citalopram response, Escitalopram response, Sertraline response, Voriconazole response | 94,842,995(+) | G/A | coding_sequence_variant, missense_variant | |
rs118203756 | drug-response, Citalopram response, Escitalopram response, Sertraline response, Voriconazole response, CYP2C19: uncertain function | 94,775,160(+) | G/C | coding_sequence_variant, missense_variant | |
rs118203757 | drug-response, Escitalopram response, Citalopram response, Sertraline response, Voriconazole response, CYP2C19: no function | 94,842,879(+) | G/A | coding_sequence_variant, missense_variant | |
rs118203759 | drug-response, Citalopram response, Escitalopram response, Sertraline response, Voriconazole response, CYP2C19: decreased function | 94,852,785(+) | C/A/G | coding_sequence_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1355n54 | CNV | loss | 21841781 |
dgv1356n54 | CNV | loss | 21841781 |
dgv160e214 | CNV | loss | 21293372 |
dgv957n100 | CNV | loss | 25217958 |
esv2659638 | CNV | deletion | 23128226 |
esv2674280 | CNV | deletion | 23128226 |
esv2739707 | CNV | deletion | 23290073 |
esv2741937 | CNV | deletion | 23290073 |
esv2761617 | CNV | loss | 21179565 |
esv3624256 | CNV | loss | 21293372 |
esv3624258 | CNV | gain | 21293372 |
esv3624260 | CNV | loss | 21293372 |
esv3891886 | CNV | loss | 25118596 |
nsv1035409 | CNV | loss | 25217958 |
nsv1046308 | CNV | loss | 25217958 |
nsv1047782 | CNV | gain | 25217958 |
nsv1052578 | CNV | loss | 25217958 |
nsv516555 | CNV | loss | 19592680 |
nsv522538 | CNV | loss | 19592680 |
nsv523259 | CNV | gain | 19592680 |
nsv820156 | CNV | loss | 19587683 |
nsv948145 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
drug metabolism, poor, cyp2c19-related |
|
|
voriconazole toxicity |
|
|
antidepressant or antipsychotic toxicity or dose selection |
|
|
clopidogrel resistance |
|
|
peptic ulcer disease |
|