CYP2C19 (cytochrome P450 family 2 subfamily C member 19)

Gene

• Entrez ID: 1557
• Gene name: Cytochrome P450 family 2 subfamily C member 19
• Gene symbol: CYP2C19
• Synonyms: CPCJ, CYP2C, CYPIIC17, CYPIIC19, P450C2C, P450IIC19
• Chromosome: 10
• Chromosome location: 10q23.33
• Summary: 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 local

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4244285	G>A,C	Other, drug-response, likely-benign	Coding sequence variant, synonymous variant
rs4986893	G>A	Other, drug-response	Coding sequence variant, stop gained
rs6413438	C>T	Drug-response	Coding sequence variant, missense variant
rs7902257	G>A	Drug-response	Upstream transcript variant
rs12248560	C>A,T	Other, drug-response, benign	Upstream transcript variant
rs12769205	A>G	Drug-response	Intron variant
rs17878739	T>C	Drug-response	Upstream transcript variant
rs17879685	C>G,T	Drug-response	Missense variant, coding sequence variant
rs17882687	A>C	Drug-response, benign	Missense variant, coding sequence variant
rs17884712	G>A,C	Drug-response	Missense variant, coding sequence variant
rs28399504	A>G,T	Drug-response, other, likely-benign	Missense variant, initiator codon variant
rs41291556	T>C	Drug-response, other	Missense variant, coding sequence variant
rs55640102	A>C,T	Drug-response	Stop lost, terminator codon variant
rs55752064	T>A,C	Drug-response	Missense variant, coding sequence variant
rs56337013	C>T	Drug-response, other	Missense variant, coding sequence variant
rs58973490	G>A	Drug-response	Missense variant, coding sequence variant
rs72552267	G>A	Drug-response	Missense variant, coding sequence variant
rs72558186	T>A,C	Drug-response	Splice donor variant
rs111490789	C>A	Drug-response	Upstream transcript variant
rs113934938	G>A	Drug-response	Missense variant, coding sequence variant
rs118203756	G>C	Drug-response	Missense variant, coding sequence variant
rs118203757	G>A	Drug-response	Missense variant, coding sequence variant
rs118203759	C>A,G	Drug-response	Missense variant, coding sequence variant
rs138142612	G>A	Drug-response	Missense variant, coding sequence variant
rs140278421	G>A,C,T	Drug-response	Missense variant, coding sequence variant
rs145328984	C>A,T	Drug-response	Missense variant, coding sequence variant
rs192154563	C>G,T	Drug-response	Coding sequence variant, missense variant
rs367543001	G>A	Drug-response	5 prime UTR variant
rs367543002	C>T	Drug-response	Coding sequence variant, missense variant
rs367543003	T>C	Drug-response	Coding sequence variant, missense variant
rs370803989	G>A	Drug-response	Coding sequence variant, missense variant
rs375781227	G>A,C	Drug-response	Coding sequence variant, missense variant
rs377184510	A>G	Drug-response	Coding sequence variant, synonymous variant
rs1288601658	A>G,T	Drug-response	Coding sequence variant, missense variant
rs1564656981	A>T	Drug-response	Missense variant, coding sequence variant
rs1564657013	A>G	Drug-response	Missense variant, coding sequence variant
rs1564660997	C>T	Drug-response	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	22012620
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	22012620
MIRT528535	hsa-miR-938	PAR-CLIP	22012620
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	22012620
MIRT528533	hsa-miR-145-5p	PAR-CLIP	22012620
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	22012620
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	22012620
MIRT528530	hsa-miR-874-3p	PAR-CLIP	22012620
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	22012620
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	22012620
MIRT456013	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT456012	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT456011	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT456010	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT456009	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT456008	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT456007	hsa-miR-4459	PAR-CLIP	23592263
MIRT456006	hsa-miR-665	PAR-CLIP	23592263
MIRT456005	hsa-miR-5186	PAR-CLIP	23592263
MIRT456004	hsa-miR-4537	PAR-CLIP	23592263
MIRT456003	hsa-miR-6134	PAR-CLIP	23592263
MIRT456002	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT456001	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT456000	hsa-miR-4683	PAR-CLIP	23592263
MIRT455999	hsa-miR-3689d	PAR-CLIP	23592263
MIRT455998	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT455997	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT455996	hsa-miR-7703	PAR-CLIP	23592263
MIRT455995	hsa-miR-4325	PAR-CLIP	23592263
MIRT455994	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT455993	hsa-miR-1270	PAR-CLIP	23592263
MIRT455992	hsa-miR-620	PAR-CLIP	23592263
MIRT455991	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT731396	hsa-miR-29a-3p	EMSA, Luciferase reporter assay, qRT-PCR, Western blot	26296572
MIRT731396	hsa-miR-29a-3p	EMSA, Luciferase reporter assay, qRT-PCR, Western blot	26296572
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	26701625
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	26701625
MIRT528533	hsa-miR-145-5p	PAR-CLIP	26701625
MIRT528533	hsa-miR-145-5p	PAR-CLIP	26701625
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	26701625
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	26701625
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	26701625
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	26701625
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	26701625
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	26701625
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	26701625
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	26701625
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	26701625
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	26701625
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	26701625
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	26701625
MIRT528530	hsa-miR-874-3p	PAR-CLIP	26701625
MIRT528530	hsa-miR-874-3p	PAR-CLIP	26701625
MIRT528535	hsa-miR-938	PAR-CLIP	26701625
MIRT528535	hsa-miR-938	PAR-CLIP	26701625
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	27292025
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	27292025
MIRT528533	hsa-miR-145-5p	PAR-CLIP	27292025
MIRT528533	hsa-miR-145-5p	PAR-CLIP	27292025
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	27292025
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	27292025
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	27292025
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	27292025
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	27292025
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	27292025
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	27292025
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	27292025
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	27292025
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	27292025
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	27292025
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	27292025
MIRT528530	hsa-miR-874-3p	PAR-CLIP	27292025
MIRT528530	hsa-miR-874-3p	PAR-CLIP	27292025
MIRT528535	hsa-miR-938	PAR-CLIP	27292025
MIRT528535	hsa-miR-938	PAR-CLIP	27292025
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	22012620
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	22012620
MIRT528535	hsa-miR-938	PAR-CLIP	22012620
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	22012620
MIRT528533	hsa-miR-145-5p	PAR-CLIP	22012620
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	22012620
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	22012620
MIRT528530	hsa-miR-874-3p	PAR-CLIP	22012620
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	22012620
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	22012620
MIRT456013	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT456012	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT456011	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT456010	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT456009	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT456008	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT456007	hsa-miR-4459	PAR-CLIP	23592263
MIRT456006	hsa-miR-665	PAR-CLIP	23592263
MIRT456005	hsa-miR-5186	PAR-CLIP	23592263
MIRT456004	hsa-miR-4537	PAR-CLIP	23592263
MIRT456003	hsa-miR-6134	PAR-CLIP	23592263
MIRT456002	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT456001	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT456000	hsa-miR-4683	PAR-CLIP	23592263
MIRT455999	hsa-miR-3689d	PAR-CLIP	23592263
MIRT455998	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT455997	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT455996	hsa-miR-7703	PAR-CLIP	23592263
MIRT455995	hsa-miR-4325	PAR-CLIP	23592263
MIRT455994	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT455993	hsa-miR-1270	PAR-CLIP	23592263
MIRT455992	hsa-miR-620	PAR-CLIP	23592263
MIRT455991	hsa-miR-6516-5p	PAR-CLIP	23592263

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Repression	20675569

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IDA	19651758
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006082	Process	Organic acid metabolic process	IBA	21873635
GO:0006805	Process	Xenobiotic metabolic process	IBA	21873635
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008202	Process	Steroid metabolic process	IMP	18356043
GO:0008392	Function	Arachidonic acid epoxygenase activity	IBA	21873635
GO:0008395	Function	Steroid hydroxylase activity	IBA	21873635
GO:0008395	Function	Steroid hydroxylase activity	IMP	18356043
GO:0016098	Process	Monoterpenoid metabolic process	IDA	16401082
GO:0016491	Function	Oxidoreductase activity	IDA	16401082, 19219744
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA	21873635
GO:0017144	Process	Drug metabolic process	IDA	19219744, 19651758
GO:0018675	Function	(S)-limonene 6-monooxygenase activity	IEA
GO:0018676	Function	(S)-limonene 7-monooxygenase activity	IEA
GO:0019373	Process	Epoxygenase P450 pathway	IBA	21873635
GO:0019373	Process	Epoxygenase P450 pathway	TAS
GO:0019825	Function	Oxygen binding	TAS	3442670
GO:0019899	Function	Enzyme binding	IPI	15680923
GO:0020037	Function	Heme binding	IBA	21873635
GO:0020037	Function	Heme binding	IDA	23118231
GO:0042738	Process	Exogenous drug catabolic process	IBA	21873635
GO:0042738	Process	Exogenous drug catabolic process	IDA	19029318
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0046483	Process	Heterocycle metabolic process	IDA	19651758
GO:0052741	Function	(R)-limonene 6-monooxygenase activity	IEA
GO:0070330	Function	Aromatase activity	IEA
GO:0097267	Process	Omega-hydroxylase P450 pathway	TAS

Other IDs

• MIM: 124020
• HGNC: 2621
• e!Ensembl: ENSG00000165841

Protein

• UniProt ID: P33261
• Protein name: Cytochrome P450 2C19 (EC 1.14.14.1) ((R)-limonene 6-monooxygenase) (EC 1.14.14.53) ((S)-limonene 6-monooxygenase) (EC 1.14.14.51) ((S)-limonene 7-monooxygenase) (EC 1.14.14.52) (CYPIIC17) (CYPIIC19) (Cytochrome P450-11A) (Cytochrome P450-254C) (Fenbendazo
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) (PubMed:18577768, PubMed:19965576, PubMed:20972997). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing
• PDB: 4GQS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	30 → 487	Cytochrome P450	Domain

• Sequence:

  MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQIDIKDVSKSLTNLSKI
  YGPVFTLYFGLERMVVLHGYEVVKEALIDLGEEFSGRGHFPLAERANRGFGIVFSNGKRW
  KEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTKASPCDPTFILGCAPCNVICS
  IIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNNFPTIIDYFPGTHNKLLKNLAFM
  ESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQNQQSEFTIENLVITAADLLGAGTE
  TTSTTLRYALLLLLKHPEVTAKVQEEIERVVGRNRSPCMQDRGHMPYTDAVVHEVQRYID
  LIPTSLPHAVTCDVKFRNYLIPKGTTILTSLTSVLHDNKEFPNPEMFDPRHFLDEGGNFK
  KSNYFMPFSAGKRICVGEGLARMELFLFLTFILQNFNLKSLIDPKDLDTTPVVNGFASVP
  PFYQLCFIPV

• Sequence length: 490

Pathways

KEGG:

Arachidonic acid metabolism
Linoleic acid metabolism
Drug metabolism - cytochrome P450
Metabolic pathways
Serotonergic synapse
Chemical carcinogenesis - DNA adducts

Reactome:

Xenobiotics
CYP2E1 reactions
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	27356304
Premature ovarian failure	Hypergonadotropic Ovarian Failure, X-Linked, Premature Ovarian Failure 1	rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269, rs587777270, rs201840174, rs587778428, rs41293513, rs200928781, rs587777871, rs587777872, rs606231343, rs672601359, rs193303102, rs193303103, rs193303104, rs138761187, rs869320753, rs869320765, rs878854403, rs875989810, rs875989885, rs876657679, rs1057517779, rs764841861, rs1057519602, rs147021911, rs1060505055, rs376787666, rs1554721235, rs1553752779, rs1553752894, rs144567652, rs1216260561, rs900140738, rs1560311010, rs1060502376, rs1001164504, rs1031011371, rs1596591051, rs1218620893, rs201115244, rs377712900, rs1800917478	15248218
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	21716162

Unknown
Disease name	Disease term	dbSNP ID	References
Cardiovascular diseases	Cardiovascular Diseases		20978260
Gonadotropin-resistant ovary syndrome	Gonadotropin-Resistant Ovary Syndrome		15248218
Kidney failure	Kidney Failure, Acute, Kidney Failure, Chronic		19814645, 15248218
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	21192344, 11412815, 16812949, 21926427, 21926427, 11412815, 21192344, 16812949, 8835703, 23081704, 17667959, 24014145, 21861666, 17667959, 8835703, 21861666, 23081704, 24014145
Ovarian failure	Ovarian Failure, Premature		15248218
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	rs199865688, rs397515994, rs757096307	27356304
Prostatic neoplasms	Prostatic Neoplasms		21716162
Acute kidney insufficiency	Acute Kidney Insufficiency		19814645