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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP2C19 Gene

protein-coding GIFtS: 68
GCID: GC10P096447

cytochrome P450, family 2, subfamily C, polypeptide 19

(Previous names: cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase),...)
(Previous symbol: CYP2C)

Explore 104 diseases affiliated with
CYP2C19 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 2, Subfamily C, Polypeptide 19¹ ²		P450C2C²
CYP2C¹ ² ⁵		Cytochrome P-450 II C²
CPCJ¹ ²		Cytochrome P450 2C19²
P450IIC19¹ ²		Flavoprotein-Linked Monooxygenase²
Cytochrome P450, Subfamily IIC (Mephenytoin 4-Hydroxylase), Polypeptide 19¹ ²		Mephenytoin 4'-Hydroxylase²
Cytochrome P450-11A² ³		Microsomal Monooxygenase²
Cytochrome P450-254C² ³		S-Mephenytoin 4-Hydroxylase²
Mephenytoin 4-Hydroxylase² ³		Xenobiotic Monooxygenase²
(R)-Limonene 6-Monooxygenase² ³		EC 1.14.13.-³
(S)-Limonene 6-Monooxygenase² ³		EC 1.14.13.48³
(S)-Limonene 7-Monooxygenase² ³		EC 1.14.13.49³
CYPIIC17² ³		EC 1.14.13.80³
CYPIIC19² ³		EC 1.14.14.1⁸

External Ids:	HGNC: 2621¹	Entrez Gene: 1557²	Ensembl: ENSG00000165841⁷	OMIM: 124020⁵	UniProtKB: P33261³

Export aliases for CYP2C19 gene to outside databases

Previous GC identifers: GC10P095415 GC10P095677 GC10P096574 GC10P096188 GC10P096189 GC10P096512 GC10P090150

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP2C19:

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)

UniProtKB/Swiss-Prot: CP2CJ_HUMAN, P33261

Function: Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug

S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine

summary for CYP2C19:

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 and commonly catalyze redox reactions, involving the oxidation of the substrate

and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential

for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They

are found at high levels in the liver, where they have an important role in metabolism of drugs and

endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this

accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,

cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP2C19

PharmGKB "VIP" summary for CYP2C19

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP2C19 gene promoter:
GR p53 GR-beta GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CYP2C19 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP2C19

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP2C19

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24 Ensembl cytogenetic band: 10q23.33 HGNC cytogenetic band: 10q24

CYP2C19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP2C19 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P096447: view genomic region (about GC identifiers)

Start:	96,447,911 bp from pter	End:	96,613,017 bp from pter
Size:	165,107 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP2CJ_HUMAN, P33261 (See protein sequence)

Recommended Name: Cytochrome P450 2C19

Size: 490 amino acids; 55931 Da

Cofactor: Heme group (By similarity)

Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral

membrane protein

Caution: P450-254C was originally listed as a separate gene (CYP2C17). Resequencing demonstrated that it is not a

separate gene, but a chimera. The 5'-portion corresponds to a partial 2C18 clone, and the 3'-portion corresponds to a

partial 2C19 clone

1 PDB 3D structure from and Proteopedia for CYP2C19:

4GQS (3D)

Secondary accessions: P33259 Q8WZB1 Q8WZB2 Q9UCD4

Explore the universe of human proteins at neXtProt for CYP2C19: NX_P33261

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P33261

4/27 DME Specific Peptides for CYP2C19 (P33261) (see all 27)

GKLPPGP

PGPTPLP

PFSAGKR

LTSVLHD

CYP2C19 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000760.1

ENSEMBL proteins:

ENSP00000360372

Reactome Protein details: P33261
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: CYP2C19 OriGene Protein Over-expression Lysate: CYP2C19 OriGene Custom Protein Services for CYP2C19
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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CYP2C19

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0043231	intracellular membrane-bounded organelle	TAS	3442670

CYP2C19 for ontologies About GeneDecksing

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Assay Products for CYP2C19:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for CYP2C19
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CYP2C19

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP2C19 for domains About GeneDecksing

3 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry P33261

ProtoNet protein and cluster: P33261

1 Blocks protein family: IPB002401 E-class P450 group I signature

UniProtKB/Swiss-Prot: CP2CJ_HUMAN, P33261

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CP2CJ_HUMAN, P33261

Function: Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug

S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine

Catalytic activity: (+)-(R)-limonene + NADPH + O(2) = (+)-trans-carveol + NADP(+) + H(2)O

Catalytic activity: (-)-(S)-limonene + NADPH + O(2) = (-)-trans-carveol + NADP(+) + H(2)O

Catalytic activity: (-)-(S)-limonene + NADPH + O(2) = (-)-perillyl alcohol + NADP(+) + H(2)O

Induction: P450 can be induced to high levels in liver and other tissues by various foreign compounds, including drugs,

pesticides, and carcinogens

Genatlas biochemistry entry for CYP2C19:

cytochrome P450,subfamily IIC (mephenytoin 4-hydroxylase),polypeptide 19,with poor metabolizing phenotype mutant

associated with CYP2C19,not predisposing to systemic lupus erythematosus

Enzyme Numbers (IUBMB): EC 1.14.13.80¹ EC 1.14.14.1² EC 1.14.13.49¹ EC 1.14.13.-¹ EC 1.14.13.48¹

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CYP2C19

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CYP2C19
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CYP2C19

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	IDA	19651758
GO:0005506	iron ion binding	IEA	--
GO:0008395	steroid hydroxylase activity	IMP	18356043
GO:0009055	electron carrier activity	IEA	--
GO:0016491	oxidoreductase activity	IDA	16401082

CYP2C19 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/18 super-pathways (see all 18) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Estrone metabolism

Estrone metabolism	1.00	Androstenedione and testosterone biosynthesis and metabolism p.1	0.57
Estrone metabolism	1.00	Estrogen biosynthesis	0.47
Androstenedione and testosterone biosynthesis and metabolism p.1	0.57	Estrogen biosynthesis	0.47

Tamoxifen metabolism

Tamoxifen metabolism	1.00	Estradiol metabolism	0.52
Tamoxifen Pathway, Pharmacokinetics	0.68	Benzodiazepine Pathway, Pharmacokinetics	0.30
Estradiol metabolism	0.52

Xenobiotics

	Xenobiotics	1.00			Phenytoin Pathway, Pharmacokinetics	0.42
	CYP2E1 reactions	0.65			Carbamazepine Pathway, Pharmacokinetics	0.38

Citalopram Pathway, Pharmacokinetics

	Citalopram Pathway, Pharmacokinetics	1.00			Proton Pump Inhibitor Pathway, Pharmacokinetics	0.60
	Pathway_PA166014758	0.67			Fluoxetine Pathway, Pharmacokinetics	0.57

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	1.00			cytochrome P450	0.73
	Phase 1 - Functionalization of compounds	0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 EMD Millipore Pathways for CYP2C19 (see all 6)

	Androstenedione and testosterone biosynthesis and metabolism p.1
	Estradiol metabolism
	Retinol metabolism
	Selected targets of GCR-alpha
	Estrone metabolism

5 GeneGo (Thomson Reuters) Pathways for CYP2C19

	Estrogen biosynthesis
	Estradiol metabolism
	Retinol metabolism
	Estrone metabolism
	Androstenedione and testosterone biosynthesis and metabolism p.1

5 BioSystems Pathways for CYP2C19

	cytochrome P450
	melatonin degradation I
	Tamoxifen metabolism
	metapathway biotransformation
	superpathway of melatonin degradation

5/10 Reactome Pathways for CYP2C19 (see all 10)

	Cytochrome P450 - arranged by substrate type
	Xenobiotics
	Metabolism
	Arachidonic acid metabolism
	CYP2E1 reactions

5/19 PharmGKB Pathways for CYP2C19 (see all 19)

	Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics
	Benzodiazepine Pathway, Pharmacokinetics
	Carbamazepine Pathway, Pharmacokinetics
	Citalopram Pathway, Pharmacokinetics
	Clomipramine Pathway, Pharmacokinetics

5/6 Kegg Pathways (Kegg details for CYP2C19) (see all 6):

	Arachidonic acid metabolism
	Linoleic acid metabolism
	Retinol metabolism
	Metabolism of xenobiotics by cytochrome P450
	Drug metabolism - cytochrome P450

CYP2C19 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CYP2C19

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/97 Interacting proteins for CYP2C19 (P33261³ ENSP00000360372⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 97)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
POR	P16435³	I2D: score=3
ALDH1A1	ENSP00000297785⁴	STRING: ENSP00000297785
ALDH1A2	ENSP00000249750⁴	STRING: ENSP00000249750
ALOX12	ENSP00000251535⁴	STRING: ENSP00000251535
ALOX12B	ENSP00000315167⁴	STRING: ENSP00000315167

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
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	19651758
GO:0042738	exogenous drug catabolic process	IDA	19029318

CYP2C19 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP2C19 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CYP2C19 available from Tocris Bioscience About this table

Compound	Action	CAS #
Mephenytoin	CYP2C19 substrate. Anticonvulsant	[50-12-4]

10/59 HMDB Compounds for CYP2C19 (see all 59) About this table

Compound	Synonyms	CAS #	PubMed Ids
Melatonin	5-Methoxy-N-acetyltryptamine (see all 23)	73-31-4	17003850
(+)-Limonene	(+)-(4R)-Limonene (see all 2)	5989-27-5	--
(-)-trans-Carveol	Carveol	1197-07-5	--
11,12,15-THETA	11,12,15-Trihydroxyicosatrienoic acid (see all 5)	--	--
11,12-Epoxyeicosatrienoic acid	10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)	81276-02-0	--
11,14,15-THETA	(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)	--	--
11H-14,15-EETA	14,15-Ep-11-HETrE (see all 11)	219535-29-2	--
12,13-EpOME	Vernolic acid (see all 12)	--	--
14,15-Epoxy-5,8,11-eicosatrienoic acid	(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)	81276-03-1	--
15(S)-HPETE	(5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoate (see all 8)	70981-96-3	--

10/202 DrugBank Compounds for CYP2C19 (see all 202) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Imipramine	--	50-49-7	enzyme	substrate inhibitor	9316174 12065442 9084457 19934256 12228186 9190854
Omeprazole	OMEP (see all 5)	73590-58-6	enzyme	substrate inhibitor	18048485 16093273 9353355 15258107 19934256 19515014
Citalopram	Citalopram Hydrobromide (see all 2)	59729-33-8	enzyme	substrate inhibitor	10774624 9890159 19934256 11532381 19515014
Phenytoin	5,5-diphenylhydantoin (see all 13)	57-41-0	enzyme	substrate inducer	9014207 8806399 19934256 11038165 19515014
Amitriptyline	Amitriprolidine (see all 7)	50-48-6	enzyme	substrate inhibitor	11259560 19934256 12228186 19515014
Hexobarbital	5-(1-cyclohexen-1-yl)-1,5-dimethylbarbituric acid (see all 4)	56-29-1	enzyme	substrate	11996013 8004130 19934256 19515014
Sertraline	Sertralina [Spanish] (see all 3)	79617-96-2	enzyme	substrate inhibitor	12143142 16910628 15547048 19934256
Tamoxifen	Tamoxifen Citrate (see all 5)	10540-29-1	enzyme	substrate	12124303 15159443 19934256 19515014
Diazepam	--	439-14-5	enzyme	substrate inhibitor	9029042 19934256 19515014
Doxepin	Doxepin Hcl (see all 5)	1668-19-5	enzyme	substrate	12180536 12360109 19934256

10/131 Novoseek chemical compound relationships for CYP2C19 gene (see all 131) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mephenytoin	91.2	45	7640152 (3), 10424320 (2), 18979093 (2), 8563772 (2) (see all 27)
4-hydroxymephenytoin	89.1	3	11694260 (1), 17270503 (1), 12401345 (1)
omeprazole	83.2	146	11046127 (7), 9578596 (6), 8894508 (5), 10340921 (5) (see all 57)
rabeprazole	80.7	40	11785712 (4), 12269976 (3), 15258107 (3), 15285851 (3) (see all 16)
lansoprazole	77.4	64	11719736 (6), 12656699 (5), 15285851 (4), 17295875 (4) (see all 21)
omeprazole sulfone	75.6	1	8550990 (1)
chlorzoxazone	75.3	9	9744576 (1), 11719732 (1), 15155557 (1), 12401345 (1) (see all 9)
sulfaphenazole	74.5	4	11061988 (1), 10383917 (1), 10955816 (1), 11317475 (1)
debrisoquine	74	19	8730982 (3), 10424320 (2), 12811361 (1), 7895609 (1) (see all 13)
phenacetin	73.7	10	7895609 (1), 9744576 (1), 10548449 (1), 10421611 (1) (see all 10)

10/28 PharmGKB related drug/compound annotations for CYP2C19 gene (see all 28)

Drug/compound	PharmGKB Annotation
amitriptyline	DG
carisoprodol	DL
citalopram	DG DL
clobazam	DL
clomipramine	DG
clopidogrel	CA DG DL
cyclophosphamide	CA
diazepam	DL
doxepin	DG
doxorubicin	CA

About this table

Search CenterWatch for drugs/clinical trials and news about CYP2C19 / CP2CJ

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CYP2C19 gene:

NM_000769.1

Unigene Cluster for CYP2C19:

Cytochrome P450, family 2, subfamily C, polypeptide 19

Hs.282409 [show with all ESTs]

Unigene Representative Sequence: M61854

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000464755(uc009xus.1 uc010qny.2) ENST00000371321(uc010qnz.2)

ENST00000480405

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Additional cDNA sequence:

M61854.1 X65962.1

3 DOTS entries:

DT.92457807 DT.92046716 DT.314631

18 AceView cDNA sequences:

CB217056 CD013963 CD013962 CD013964 CD013965 L07093 CD013966 AW192911

BX538127 BM969011 CB158473 M61854 BG545330 NM_000769 CB161988 AV688442

M61858 X65962

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP2C19 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CYP2C19 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Mature Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CYP2C19 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP2C19

SOURCE GeneReport for Unigene cluster: Hs.282409

SABiosciences Expression via Pathway-Focused PCR Arrays including CYP2C19 (see all 6):

Nephrotoxicity in human mouse rat

Cancer Drug Resistance in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CYP2C19 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NAB8_CHICK⁶ Q8QFT4_CHICK⁶ (see all 3)	cytochrome P-450 2C45 (see all 3)	57(a) 53(a) (see all 3)	many ↔ many many ↔ many (see all 3)	6(18655325-18675791) 6(17658074-17660908)
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 17)	--	60(a) 59(a) (see all 17)	many ↔ many many ↔ many (see all 17)	AAWZ02038902(823-8873) 1(16287752-16303321)
zebrafish (Danio rerio)	Actinopterygii	cyp2y3⁶ CU928854.1⁶	--	48(a) 48(a)	many ↔ many many ↔ many	15(65144-71354) 15(54297-58832)

ENSEMBL Gene Tree for CYP2C19 (if available)
TreeFam Gene Tree for CYP2C19 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CYP2C19 gene

CYP2W1² CYP2C8² CYP2F1² CYP2A7² CYP2R1² CYP2U1² CYP2J2² CYP2E1²

CYP2D6² CYP2B7P1² CYP2A6² CYP2B6² CYP2S1² CYP2C9² CYP2C18² CYP2A13²

18/26 SIMAP similar genes for CYP2C19 using alignment to 3 protein entries: CP2CJ_HUMAN (see all proteins) (see all similar genes):

CYP 2C CYP2C9 CYP2C8 CYP2C18 CYP2E1 CYP2A13

CYP2A6 DKFZp686I24235 CYP2A6V2 CYP2B CYP2F1 CYP2A7

CYP2B7 CYP2S1 CYP2B6 CYP2W1 CYP2J2 CYP2R1

CYP2C19 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for CYP2C19
PGOHUM00000242077

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: CP2CJ_HUMAN, P33261

Polymorphism: Genetic variation in CYP2C19 is responsible for poor drug metabolism [MIM:609535]. Individuals can be

characterized as either extensive metabolizers (EM) or poor metabolizers (PM). The PM phenotype is inherited in an

autosomal recessive manner, with the EM phenotype comprising both homozygous dominant and heteroyzgote genotypes.

There are marked interracial differences in the frequency of this polymorphism. Poor metabolizers represent 2-5% of

Caucasians, 13-23% of Asian populations, and as many as 38-79% of individuals of some of the islands of Polynesia and

Micronesia. Different alleles of CYP2C19 are known: CYP2C19*1A CYP2C19*1B, CYP2C19*1C, CYP2C19*2A (CYP2C19m1 or

CYP2C19m1A), CYP2C19*2B (CYP2C19m1B), CYP2C19*2C (CYP2C19*21), CYP2C19*3A (CYP2C19m2), CYP2C19*3B (CYP2C19*20),

CYP2C19*4 (CYP2C19m3), CYP2C19*5A (CYP2C19m4), CYP2C19*5B, CYP2C19*6, CYP2C19*7, CYP2C19*8, CYP2C19*9, CYP2C19*10,

CYP2C19*11 CYP2C19*12, CYP2C19*13, CYP2C19*14 CYP2C19*15, CYP2C19*16, CYP2C19*18, CYP2C19*19. Defective CYP2C19*2 and

CYP2C19*3 alleles are characterized by a splice mutation and a stop codon, respectively, and account for most of the

PM alleles. The sequence shown is that of allele CYP2C19*1B

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs56337013^1,2	C	pathogenic	98000478(+)	`GAAAAC/TGGATT`	2	R W	mis¹		0	--	--	--	--
rs4986893^1,2	C,F,	pathogenic	98072554(+)	`CCCTGG/AATCCA`	2	/* /W	stg¹ ese³		11		MN NA EA EU	6697
rs28399504^1,2	C,F,H,	pathogenic	98090520(+)	`CTTCAA/GTGGAT`	2	M V	mis¹ ese³		15		EA NS MN WA NA EU	7985
rs118203757^1,2	C,	untested	98010332(+)	`AAACCG/AGAGCC`	2	/Q /R	mis¹		1		NA	4552
rs17878459^1,2	C,F,	other	98078057(+)	`GGAGAA/C/GGAGTT`	3	E D	syn¹ mis¹ ese³		20		NS NA MN WA EA EU	8759
rs59536673^1,2	F,	--	90147585(+)	`AAATGG/AGGTTA`	1	--	us2k¹		1		WA	118
rs17878739^1,2	C,F,	--	90147683(+)	`CCTCAT/CTAGGA`	1	--	us2k¹		3		NS CSA WA	294
rs11568730^1,2	C,F,H,	--	90147731(+)	`GGCTTT/GGTGTA`	1	--	us2k¹		9		NS EA WA	1406
rs78815497^1,2	C,	--	90147840(+)	`GTTTTG/TTGCTG`	1	--	us2k¹		0	--	--	--	--
rs17885857^1,2	C,F,H	--	90147908(+)	`TCTGCC/TCATAA`	1	--	us2k¹		4		NS NA	384

HapMap Linkage Disequilibrium report for CYP2C19 (96447911 - 96613017 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CYP2C19
2 CNVs: 48674 58482
Human Gene Mutation Database (HGMD): CYP2C19

Locus Specific Mutation Databases (LSDB): CYP2C19

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP2C19

DNA2.0 Custom Variant and Variant Library Synthesis for CYP2C19

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CYP2C19 for disorders           About GeneDecksing

OMIM gene information: 124020
OMIM disorders: 609535
20/104 diseases for CYP2C19 (see all 104):    About MalaCards

mephenytoin poor metabolizer proguanil poor metabolizer opremazole poor metabolizer clopidogrel, impaired responsiveness to

21-hydroxylase deficiency antley-bixler syndrome sudden infant death syndrome gastroesophageal reflux disease

drug-induced hepatitis human immunodeficiency virus infectious disease cholesterol patent ductus arteriosus

lichen planus oral lichen planus peptic ulcer malignant pleural mesothelioma

non-hodgkin lymphoma tardive dyskinesia type 2 diabetes mellitus substance abuse

5 diseases from the University of Copenhagen DISEASES database for CYP2C19:

Peptic ulcer Gastroesophageal reflux disease Coronary heart disease Myocardial infarction

Esophagitis

10/28 Novoseek disease relationships for CYP2C19 gene (see all 28) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
peptic ulcer	15.6	5	9867757 (3), 10616772 (1), 16268979 (1)
gastroesophageal reflux disease	13.9	1	17559380 (1)
genetic susceptibility	11.6	1	12662378 (1)
gastric ulcer	8.33	1	12222994 (1)
reflux	5.88	1	12222994 (1)
liver diseases	3.84	3	9695714 (2), 8550990 (1)
torsades de pointes	3.29	1	10886124 (1)
inflammation	1.84	2	18205890 (2)
tumors	0.337	10	16641871 (3), 14759713 (2), 18205890 (1)
intoxication	0	1	16024198 (1)

Genetic Association Database (GAD): CYP2C19
Human Genome Epidemiology (HuGE) Navigator: CYP2C19 (483 documents)

Export disorders for CYP2C19 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CYP2C19 gene, integrated from 9 sources (see all 1000):
(articles sorted by number of sources associating them with CYP2C19)

Utopia: connect your pdf to the dynamic
world of online information

Genetic variations and haplotypes of CYP2C19 in a Japanese population. (PubMed id 16141610)^{1, 2, 4} Fukushima-Uesaka H.... Sawada J. (2005)
Contributions of CYP2D6, CYP2C9 and CYP2C19 to the biotransformation of E- and Z-doxepin in healthy volunteers. (PubMed id 12360109)^{1, 4, 7} Kirchheiner J....Brockmoller J. (2002)
Cloning and expression of complementary DNAs for multiple members of the human cytochrome P450IIC subfamily. (PubMed id 2009263)^{1, 2, 3} Romkes M.... Goldstein J.A. (1991)
[Association between genetic polymorphisms of CYP2C19 and CYP2C9 and phenytoin serum concentration] (PubMed id 15569425)^{1, 4, 9} Huang Y....Chen B. (2004)
Effects of CYP2C19 gene polymorphism on cure rates for Helicobacter pylori infection by triple therapy with proton pump inhibitor (omeprazole or rabeprazole), amoxycillin and clarithromycin in Japan. (PubMed id 11785712)^{1, 4, 9} Dojo M....Kuriyama M. (2001)
Poor metabolizer genotype status of CYP2C19 is a risk factor for developing gastric cancer in Japanese patients with Helicobacter pylori infection. (PubMed id 16268979)^{1, 4, 9} Sugimoto M....Ishizaki T. (2005)
Effect of lansoprazole and rabeprazole on tacrolimus pharmacokinetics in healthy volunteers with CYP2C19 mutations. (PubMed id 15285851)^{1, 4, 9} Itagaki F....Kohda Y. (2004)
A novel single nucleotide polymorphism (SNP) of the CYP2C19 gene in a Japanese subject with lowered capacity of mephobarbital 4'- hydroxylation. (PubMed id 15499191)^{1, 2, 9} Morita J.... Chiba K. (2004)
Pharmacokinetics of citalopram in relation to genetic polymorphism of CYP2C19. (PubMed id 12975335)^{1, 4, 9} Yu B.N....Zhou H.H. (2003)
The effects of lansoprazole on erosive reflux oesophagitis are influenced by CYP2C19 polymorphism. (PubMed id 12656699)^{1, 4, 9} Kawamura M....Shimosegawa T. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1557	HGNC: 2621	AceView: CYP2C19andCYP2C18	Ensembl:ENSG00000165841	euGenes: HUgn1557
ECgene: CYP2C19	Kegg: 1557	H-InvDB: CYP2C19

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CYP2C19	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP2C19	Genetics and Cytogenetics in Oncology and Haematology
Cytochrome P450 Allele Nomenclature Committee	http://www.cypalleles.ki.se/cyp2c19.htm
NIEHS-SNPs	http://egp.gs.washington.edu/data/cyp2c19/

Intellectual Property for CYP2C19 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CYP2C19 gene:
Search GeneIP for patents involving CYP2C19

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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CYP2C19 Gene

cytochrome P450, family 2, subfamily C, polypeptide 19

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CYP2C19 (Gene Symbol)
Cytochrome P450, Family 2, Subfamily C, Polypeptide 19
CYP2C
CPCJ
P450IIC19
Cytochrome P450, Subfamily IIC (Mephenytoin 4-Hydroxylase), Polypeptide 19
Cytochrome P450-11A
Cytochrome P450-254C
Mephenytoin 4-Hydroxylase
(R)-Limonene 6-Monooxygenase
(S)-Limonene 6-Monooxygenase
(S)-Limonene 7-Monooxygenase
CYPIIC17
CYPIIC19
P450C2C
Cytochrome P-450 II C
Cytochrome P450 2C19
Flavoprotein-Linked Monooxygenase
Mephenytoin 4'-Hydroxylase
Microsomal Monooxygenase
S-Mephenytoin 4-Hydroxylase
Xenobiotic Monooxygenase
EC 1.14.13.-
EC 1.14.13.48
EC 1.14.13.49
EC 1.14.13.80
EC 1.14.14.1

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CYP2C19 Gene

cytochrome P450, family 2, subfamily C, polypeptide 19

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