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Aliases for CYP2C19 Gene

Aliases for CYP2C19 Gene

  • Cytochrome P450 Family 2 Subfamily C Member 19 2 3 5
  • Cytochrome P450, Subfamily IIC (Mephenytoin 4-Hydroxylase), Polypeptide 19 2 3
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 19 2 3
  • (R)-Limonene 6-Monooxygenase 3 4
  • (S)-Limonene 6-Monooxygenase 3 4
  • (S)-Limonene 7-Monooxygenase 3 4
  • Mephenytoin 4-Hydroxylase 3 4
  • Cytochrome P450-254C 3 4
  • Cytochrome P450-11A 3 4
  • CYPIIC17 3 4
  • CYPIIC19 3 4
  • Flavoprotein-Linked Monooxygenase 3
  • S-Mephenytoin 4-Hydroxylase 3
  • Microsomal Monooxygenase 3
  • Xenobiotic Monooxygenase 3
  • Cytochrome P-450 II C 3
  • Cytochrome P450 2C19 3
  • EC 1.14.13.80 4
  • EC 1.14.13.48 4
  • EC 1.14.13.49 4
  • EC 1.14.14.1 61
  • EC 1.14.13.- 4
  • P450IIC19 3
  • P450C2C 3
  • CYP2C 3
  • CPCJ 3

External Ids for CYP2C19 Gene

Previous HGNC Symbols for CYP2C19 Gene

  • CYP2C

Previous GeneCards Identifiers for CYP2C19 Gene

  • GC10P095415
  • GC10P095677
  • GC10P096574
  • GC10P096188
  • GC10P096189
  • GC10P096512
  • GC10P090150
  • GC10P096447

Summaries for CYP2C19 Gene

Entrez Gene Summary for CYP2C19 Gene

  • 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]

GeneCards Summary for CYP2C19 Gene

CYP2C19 (Cytochrome P450 Family 2 Subfamily C Member 19) is a Protein Coding gene. Diseases associated with CYP2C19 include Mephenytoin Poor Metabolizer and Cyp2c19-Related Altered Drug Metabolism. Among its related pathways are Cytochrome P450 - arranged by substrate type and Drug metabolism - cytochrome P450. GO annotations related to this gene include enzyme binding and iron ion binding. An important paralog of this gene is CYP2C9.

UniProtKB/Swiss-Prot for CYP2C19 Gene

  • 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.

Tocris Summary for CYP2C19 Gene

  • 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.

Gene Wiki entry for CYP2C19 Gene

PharmGKB "VIP" Summary for CYP2C19 Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for CYP2C19 Gene

Genomics for CYP2C19 Gene

Regulatory Elements for CYP2C19 Gene

Enhancers for CYP2C19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F094901 0.2 ENCODE 15.4 +141.1 141065 4.7 ELF3 PKNOX1 ARID4B ZSCAN9 RAD21 THRB RARA YY1 FOS CREM ACSM6 CYP2C19 CYP2C115P GC10M094889
GH10F094679 0.2 ENCODE 15 -80.4 -80445 5.4 KLF17 RAD21 RARA YY1 SCRT2 CREM MIXL1 THAP11 SP5 CEBPB ACSM6 CYP2C19 MTND4P19 NOC3L CYP2C9 CYP2C18 CTBP2P2
GH10F094997 0.8 Ensembl ENCODE 11.5 +235.3 235319 1.3 JUND TEAD4 ACSM6 CYP2C19 PIR31621 GC10P094956
GH10F094439 0.6 Ensembl 8.2 -323.1 -323124 0.2 CTCF SCRT2 RAD21 CYP2C19 PIR44069 TBC1D12
GH10F094381 1.2 Ensembl ENCODE 8.2 -381.4 -381424 0.4 JUND POLR3A CEBPB FOS HELLS PDE6C CYP2C19 NOC3L TBC1D12
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CYP2C19 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP2C19 Gene

Chromosome:
10
Start:
94,762,624 bp from pter
End:
94,853,260 bp from pter
Size:
90,637 bases
Orientation:
Plus strand

Genomic View for CYP2C19 Gene

Genes around CYP2C19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP2C19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP2C19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP2C19 Gene

Proteins for CYP2C19 Gene

  • Protein details for CYP2C19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33261-CP2CJ_HUMAN
    Recommended name:
    Cytochrome P450 2C19
    Protein Accession:
    P33261
    Secondary Accessions:
    • P33259
    • Q8WZB1
    • Q8WZB2
    • Q9UCD4

    Protein attributes for CYP2C19 Gene

    Size:
    490 amino acids
    Molecular mass:
    55931 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP2C19 Gene

neXtProt entry for CYP2C19 Gene

Selected DME Specific Peptides for CYP2C19 Gene

P33261:
  • CLVEELRK
  • LTSVLHD
  • FGMGKRS
  • YGPVFTLY
  • EEFSGRG
  • EKVKEHQ
  • GMGKRSIE
  • PFSAGKR
  • PGPTPLP
  • GKRICVGE
  • LLLLLKHP
  • IEDRVQEEA
  • LPHAVTCD
  • RRFSLMTL
  • NPRDFID
  • KEFPNPE
  • TSLTSVLH
  • GEGLARME
  • CDPTFIL
  • GKLPPGP
  • VVLVLCLS
  • TTSTTLRY
  • LARMELFLFLT
  • AGTETTS
  • KFRNYLIPKGT
  • TAKVQEEI
  • PCNVICS

Post-translational modifications for CYP2C19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP2C19 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP2C19 Gene

Gene Families for CYP2C19 Gene

Protein Domains for CYP2C19 Gene

Graphical View of Domain Structure for InterPro Entry

P33261

UniProtKB/Swiss-Prot:

CP2CJ_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP2C19: view

Function for CYP2C19 Gene

Molecular function for CYP2C19 Gene

GENATLAS Biochemistry:
cytochrome P450,subfamily IIC (mephenytoin 4-hydroxylase),polypeptide 19,with poor metabolizing phenotype mutant associated with CYP2C19,not predisposing to systemic lupus erythematosus
UniProtKB/Swiss-Prot CatalyticActivity:
(+)-(R)-limonene + NADPH + O(2) = (+)-trans-carveol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
(-)-(S)-limonene + NADPH + O(2) = (-)-trans-carveol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
(-)-(S)-limonene + NADPH + O(2) = (-)-perillyl alcohol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
P450 can be induced to high levels in liver and other tissues by various foreign compounds, including drugs, pesticides, and carcinogens.

Enzyme Numbers (IUBMB) for CYP2C19 Gene

Gene Ontology (GO) - Molecular Function for CYP2C19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0008392 arachidonic acid epoxygenase activity IBA --
GO:0008395 steroid hydroxylase activity IMP 18356043
GO:0016491 oxidoreductase activity IDA 16401082
genes like me logo Genes that share ontologies with CYP2C19: view
genes like me logo Genes that share phenotypes with CYP2C19: view

Human Phenotype Ontology for CYP2C19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CYP2C19 Gene

Localization for CYP2C19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP2C19 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP2C19 Gene COMPARTMENTS Subcellular localization image for CYP2C19 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 2
cytosol 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP2C19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
GO:0043231 intracellular membrane-bounded organelle TAS 3442670
genes like me logo Genes that share ontologies with CYP2C19: view

Pathways & Interactions for CYP2C19 Gene

genes like me logo Genes that share pathways with CYP2C19: view

Gene Ontology (GO) - Biological Process for CYP2C19 Gene

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 19219744
GO:0019373 epoxygenase P450 pathway TAS --
genes like me logo Genes that share ontologies with CYP2C19: view

No data available for SIGNOR curated interactions for CYP2C19 Gene

Drugs & Compounds for CYP2C19 Gene

(414) Drugs for CYP2C19 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, FDA Approved Drugs, HMDB, Tocris, and Novoseek

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 337
Citalopram Approved Pharma Enzyme, substrate, inhibitor 503
Esomeprazole Approved, Investigational Pharma Enzyme, substrate, inhibitor Proton pump inhibitor 324
Fluvoxamine Approved, Investigational Pharma Enzyme, inhibitor 48
Imipramine Approved Pharma Antagonist, Enzyme, substrate, inhibitor 27

(87) Additional Compounds for CYP2C19 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Paraxanthine
  • 1,7-Dimethyl-Xanthine
  • 1,7-Dimethylxanthine
611-59-6
(-)-trans-Carveol
  • Carveol
1197-07-5
(+)-Limonene
  • (+)-(4R)-Limonene
  • (+)-(R)-Limonene
5989-27-5
(+)-trans-Carveol

(5) Tocris Compounds for CYP2C19 Gene

Compound Action Cas Number
Anastrozole Potent aromatase (CYP19) inhibitor 120511-73-1
Ketoconazole Cytochrome P450c17 inhibitor 65277-42-1
Letrozole Potent, reversible non-steroidal aromatase inhibitor 112809-51-5
Metyrapone 11-beta hydroxylase inhibitor 54-36-4
TMS Cytochrome P450 1B1 inhibitor 24144-92-1

(4) ApexBio Compounds for CYP2C19 Gene

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
genes like me logo Genes that share compounds with CYP2C19: view

Transcripts for CYP2C19 Gene

mRNA/cDNA for CYP2C19 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP2C19 Gene

Cytochrome P450, family 2, subfamily C, polypeptide 19:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP2C19 Gene

No ASD Table

Relevant External Links for CYP2C19 Gene

GeneLoc Exon Structure for
CYP2C19
ECgene alternative splicing isoforms for
CYP2C19

Expression for CYP2C19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP2C19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP2C19 Gene

This gene is overexpressed in Liver (x41.6) and Small Intestine - Terminal Ileum (x4.1).

Protein differential expression in normal tissues from HIPED for CYP2C19 Gene

This gene is overexpressed in Liver (53.8) and Gallbladder (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP2C19 Gene



Protein tissue co-expression partners for CYP2C19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP2C19 Gene:

CYP2C19

SOURCE GeneReport for Unigene cluster for CYP2C19 Gene:

Hs.282409
genes like me logo Genes that share expression patterns with CYP2C19: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CYP2C19 Gene

Orthologs for CYP2C19 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP2C19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC740956 34
  • 98.78 (n)
CYP2C19 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp2c6v1 34
  • 80.3 (n)
cow
(Bos Taurus)
Mammalia CYP2C18 35
  • 79 (a)
ManyToMany
CYP2C19 34
  • 78.03 (n)
-- 35
  • 78 (a)
ManyToMany
CYP2C87 35
  • 78 (a)
ManyToMany
-- 35
  • 76 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Cyp2c65 35
  • 76 (a)
ManyToMany
Cyp2c29 35
  • 75 (a)
ManyToMany
Cyp2c66 35
  • 75 (a)
ManyToMany
Cyp2c39 35
  • 73 (a)
ManyToMany
Cyp2c37 35
  • 72 (a)
ManyToMany
Cyp2c38 35
  • 72 (a)
ManyToMany
Cyp2c50 35
  • 72 (a)
ManyToMany
Cyp2c54 35
  • 70 (a)
ManyToMany
Cyp2c67 35
  • 66 (a)
ManyToMany
Cyp2c68 35
  • 66 (a)
ManyToMany
Cyp2c69 35
  • 66 (a)
ManyToMany
Cyp2c40 35
  • 62 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia CYP2C18 34
  • 75.71 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 68 (a)
ManyToMany
-- 35
  • 67 (a)
ManyToMany
-- 35
  • 67 (a)
ManyToMany
-- 35
  • 67 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Cyp18a1 36
  • 32 (a)
Cyp303a1 36
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea B0213.11 36
  • 39 (a)
C12D5.7 36
  • 34 (a)
C49C8.4 36
  • 33 (a)
F41B5.3 36
  • 33 (a)
F44C8.1 36
  • 33 (a)
K09A11.2 36
  • 33 (a)
Y49C4A.9 36
  • 33 (a)
B0304.3 36
  • 32 (a)
C45H4.17 36
  • 32 (a)
C45H4.2 36
  • 32 (a)
F41B5.4 36
  • 32 (a)
F41B5.7 36
  • 32 (a)
K09A11.3 36
  • 32 (a)
B0213.14 36
  • 31 (a)
C41G6.1 36
  • 31 (a)
F41B5.2 36
  • 31 (a)
K09D9.2 36
  • 31 (a)
R08F11.3 36
  • 31 (a)
T09H2.1 36
  • 31 (a)
T10H4.10 36
  • 31 (a)
T10H4.11 36
  • 31 (a)
B0213.16 36
  • 30 (a)
C03G6.15 36
  • 30 (a)
C34B7.3 36
  • 30 (a)
C49G7.8 36
  • 30 (a)
K05D4.4 36
  • 30 (a)
K07C6.2 36
  • 29 (a)
K07C6.3 36
  • 29 (a)
K07C6.5 36
  • 29 (a)
C25E10.2 36
  • 27 (a)
Species where no ortholog for CYP2C19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for CYP2C19 Gene

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

Paralogs for CYP2C19 Gene

Variants for CYP2C19 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2C19 Gene

CP2CJ_HUMAN-P33261
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.

Sequence variations from dbSNP and Humsavar for CYP2C19 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs12248560 drug-response 94,761,900(+) CAAAG(C/T)ATCTC upstream-variant-2KB
rs28399504 drug-response 94,762,706(+) CTTCA(A/G/T)TGGAT reference, missense
rs4244285 drug-response 94,781,859(+) TTCCC(A/G)GGAAC reference, synonymous-codon
rs4986893 drug-response 94,780,653(+) CCCTG(A/G)ATCCA reference, stop-gained
rs56337013 drug-response 94,852,738(+) GAAAA(C/T)GGATT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYP2C19 Gene

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

Variation tolerance for CYP2C19 Gene

Residual Variation Intolerance Score: 95.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.10; 61.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP2C19 Gene

Human Gene Mutation Database (HGMD)
CYP2C19
The Human Cytochrome P450 Allele Nomenclature Database
CYP2C19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2C19

Disorders for CYP2C19 Gene

MalaCards: The human disease database

(24) MalaCards diseases for CYP2C19 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mephenytoin poor metabolizer
  • opremazole poor metabolizer
cyp2c19-related altered drug metabolism
  • mephenytoin poor metabolizer
voriconazole toxicity
clopidogrel resistance
  • cyp2c19-related poor drug metabolism
antidepressant or antipsychotic toxicity or dose selection
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYP2C19

Genetic Association Database (GAD)
CYP2C19
Human Genome Epidemiology (HuGE) Navigator
CYP2C19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP2C19
genes like me logo Genes that share disorders with CYP2C19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP2C19 Gene

Publications for CYP2C19 Gene

  1. Double-dosed pantoprazole accelerates the sustained symptomatic response in overweight and obese patients with reflux esophagitis in Los Angeles grades A and B. (PMID: 19904250) Chen W.Y. … Sheu B.S. (Am. J. Gastroenterol. 2010) 3 22 46 64
  2. Impact of cytochrome P450 2C19 loss-of-function polymorphism and of major demographic characteristics on residual platelet function after loading and maintenance treatment with clopidogrel in patients undergoing elective coronary stent placement. (PMID: 20510210) Hochholzer W. … Neumann F.J. (J. Am. Coll. Cardiol. 2010) 3 22 46 64
  3. Pharmacogenomics of CYP2A6, CYP2B6, CYP2C19, CYP2D6, CYP3A4, CYP3A5 and MDR1 in Vietnam. (PMID: 18979093) Veiga M.I. … Gil J.P. (Eur. J. Clin. Pharmacol. 2009) 3 22 46 64
  4. DNA microarray technology in the clinical environment: the AmpliChip CYP450 test for CYP2D6 and CYP2C19 genotyping. (PMID: 19169185) de Leon J. … Nikoloff D.M. (CNS Spectr 2009) 3 22 46 64
  5. Impact of CYP2C19 phenotypes on escitalopram metabolism and an evaluation of pupillometry as a serotonergic biomarker. (PMID: 19404631) Noehr-Jensen L. … Brosen K. (Eur. J. Clin. Pharmacol. 2009) 3 22 46 64

Products for CYP2C19 Gene

Sources for CYP2C19 Gene

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