Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1557
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CYP2C19   Gene   UCSC   Ensembl
Aliases CPCJ, CYP2C, CYPIIC17, CYPIIC19, P450C2C, P450IIC19
Gene name cytochrome P450 family 2 subfamily C member 19
Alternate names cytochrome P450 2C19, (R)-limonene 6-monooxygenase, (S)-limonene 6-monooxygenase, (S)-limonene 7-monooxygenase, S-mephenytoin 4-hydroxylase, cytochrome P-450 II C, cytochrome P450, family 2, subfamily C, polypeptide 19, cytochrome P450, subfamily IIC (mephenytoi,
Gene location 10q23.33 (94762680: 94853204)     Exons: 9     NC_000010.11
Gene summary(Entrez) 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]
OMIM 124020

SNPs

rs12248560

Strand:    Allele origin: T(germline)/A(germline)/C(germline)  Allele change: A/C/T   Mutation type: snp

CM000672.2   g.94761900C>T
NC_000010.10   g.96521657C>A
NC_000010.10   g.96521657C>T
NC_000010.11   g.94761900C>A
NC_000010.11   g.94761900C>T
NG_008384.2   g.4195C>A
NG_008384.2   g.4195C>T
NG_055436.1   g.1260C>A
NG_055436.1   g.1260C>T
NM_000769.2   c.-806C>A
NM_000769.2   c.-806C>T
Clinical Significance: drug-response

rs4244285

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/C/G   Mutation type: snp

CM000672.2   g.94781859G>A
NC_000010.10   g.96541616G>A
NC_000010.11   g.94781859G>A
NG_008384.2   g.24154G>A
NM_000769.1   c.681G>A
NM_000769.2   c.681G>A
NP_000760.1   p.Pro227=
Clinical Significance: drug-response

rs11592737

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NC_000010.11   g.94843657A>G
NC_000010.10   g.96603414A>G
NG_008384.2   g.85952A>G
NM_000769.1   c.1149+633A>G
NM_000769.2   c.1149+633A>G

Protein Summary

Protein general information P33261  

Name: Cytochrome P450 2C19 (EC 1.14.13. ) ((R) limonene 6 monooxygenase) (EC 1.14.13.80) ((S) limonene 6 monooxygenase) (EC 1.14.13.48) ((S) limonene 7 monooxygenase) (EC 1.14.13.49) (CYPIIC17) (CYPIIC19) (Cytochrome P450 11A) (Cytochrome P450 254C) (Mephenytoi

Length: 490  Mass: 55,931

Sequence MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQIDIKDVSKSLTNLSKIYGPVFTLYFGLERMV
VLHGYEVVKEALIDLGEEFSGRGHFPLAERANRGFGIVFSNGKRWKEIRRFSLMTLRNFGMGKRSIEDRVQEEAR
CLVEELRKTKASPCDPTFILGCAPCNVICSIIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNNFPTIIDY
FPGTHNKLLKNLAFMESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQNQQSEFTIENLVITAADLLGAGTE
TTSTTLRYALLLLLKHPEVTAKVQEEIERVVGRNRSPCMQDRGHMPYTDAVVHEVQRYIDLIPTSLPHAVTCDVK
FRNYLIPKGTTILTSLTSVLHDNKEFPNPEMFDPRHFLDEGGNFKKSNYFMPFSAGKRICVGEGLARMELFLFLT
FILQNFNLKSLIDPKDLDTTPVVNGFASVPPFYQLCFIPV
Structural information
Interpro:  IPR001128 IPR017972 IPR002401
Prosite:   PS00086

Pfam:  
PF00067

PDB:  
4GQS
PDBsum:   4GQS
STRING:   ENSP00000360372;
Other Databases GeneCards:  CYP2C19;  Malacards:  CYP2C19

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004497 monooxygenase activity
IDA molecular_function
GO:0004497 monooxygenase activity
TAS molecular_function
GO:0004497 monooxygenase activity
TAS molecular_function
GO:0005506 iron ion binding
IEA molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006805 xenobiotic metabolic proc
ess
TAS biological_process
GO:0008202 steroid metabolic process
IMP biological_process
GO:0008392 arachidonic acid epoxygen
ase activity
IBA molecular_function
GO:0008395 steroid hydroxylase activ
ity
IMP molecular_function
GO:0016098 monoterpenoid metabolic p
rocess
IDA biological_process
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0017144 drug metabolic process
IDA biological_process
GO:0017144 drug metabolic process
IDA biological_process
GO:0018675 (S)-limonene 6-monooxygen
ase activity
IEA molecular_function
GO:0018676 (S)-limonene 7-monooxygen
ase activity
IEA molecular_function
GO:0019373 epoxygenase P450 pathway
IBA biological_process
GO:0019373 epoxygenase P450 pathway
TAS biological_process
GO:0019825 oxygen binding
TAS molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0042738 exogenous drug catabolic
process
IDA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
TAS cellular_component
GO:0046483 heterocycle metabolic pro
cess
IDA biological_process
GO:0052741 (R)-limonene 6-monooxygen
ase activity
IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0097267 omega-hydroxylase P450 pa
thway
TAS biological_process
GO:0004497 monooxygenase activity
IEA molecular_function
GO:0004497 monooxygenase activity
IDA molecular_function
GO:0004497 monooxygenase activity
TAS molecular_function
GO:0004497 monooxygenase activity
TAS molecular_function
GO:0004497 monooxygenase activity
TAS molecular_function
GO:0005506 iron ion binding
IEA molecular_function
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006805 xenobiotic metabolic proc
ess
TAS biological_process
GO:0008202 steroid metabolic process
IMP biological_process
GO:0008392 arachidonic acid epoxygen
ase activity
IBA molecular_function
GO:0008395 steroid hydroxylase activ
ity
IMP molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0016098 monoterpenoid metabolic p
rocess
IDA biological_process
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016705 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n
IEA molecular_function
GO:0017144 drug metabolic process
IDA biological_process
GO:0017144 drug metabolic process
IDA biological_process
GO:0018675 (S)-limonene 6-monooxygen
ase activity
IEA molecular_function
GO:0018676 (S)-limonene 7-monooxygen
ase activity
IEA molecular_function
GO:0019373 epoxygenase P450 pathway
IBA biological_process
GO:0019373 epoxygenase P450 pathway
TAS biological_process
GO:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0020037 heme binding
IEA molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0031090 organelle membrane
IEA cellular_component
GO:0042738 exogenous drug catabolic
process
IDA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IEA cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
TAS cellular_component
GO:0046483 heterocycle metabolic pro
cess
IDA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0052741 (R)-limonene 6-monooxygen
ase activity
IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0097267 omega-hydroxylase P450 pa
thway
TAS biological_process
GO:0004497 monooxygenase activity
IDA molecular_function
GO:0004497 monooxygenase activity
TAS molecular_function
GO:0004497 monooxygenase activity
TAS molecular_function
GO:0004497 monooxygenase activity
TAS molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006805 xenobiotic metabolic proc
ess
TAS biological_process
GO:0008202 steroid metabolic process
IMP biological_process
GO:0008392 arachidonic acid epoxygen
ase activity
IBA molecular_function
GO:0008395 steroid hydroxylase activ
ity
IMP molecular_function
GO:0016098 monoterpenoid metabolic p
rocess
IDA biological_process
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0017144 drug metabolic process
IDA biological_process
GO:0017144 drug metabolic process
IDA biological_process
GO:0019373 epoxygenase P450 pathway
IBA biological_process
GO:0019373 epoxygenase P450 pathway
TAS biological_process
GO:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0042738 exogenous drug catabolic
process
IDA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
TAS cellular_component
GO:0046483 heterocycle metabolic pro
cess
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0097267 omega-hydroxylase P450 pa
thway
TAS biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa04726  Serotonergic synapse
hsa05204  Chemical carcinogenesis
hsa00590  Arachidonic acid metabolism
hsa00982  Drug metabolism - cytochrome P450
hsa00591  Linoleic acid metabolism

Diseases

Associated diseases References
Acute coronary syndrome PMID: 18394438
Behcet's disease PMID: 17269966
Cancer PMID: 19954746
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Depression PMID: 15590749
Diabetes PMID: 12732844
Dyspepsia PMID: 19821196
Endometriosis PMID: 19499406
Epilepsy PMID: 15385837
Esophagitis PMID: 12656699
Gastric disease PMID: 15903128
Gastroesophageal reflux disease PMID: 12386647
Hematologic diseases PMID: 19199010
Liver disease PMID: 12963435
Metabolism disorders PMID: 13680037
Periodontitis PMID: 14659971
Premature ovarian failure ( POF) PMID: 15248218
Psychiatric disorders PMID: 11372584
Reflux esophagitis PMID: 19904250
Endometriosis INFBASE19499406
Rheumatoid arthritis PMID: 18496682
Seizures PMID: 15090156
Systemic lupus erythematosus PMID: 10364917
Systemic sclerosis PMID: 11263781
Visual disorder PMID: 11773867

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25403437 Endometrio
sis
A/G 85952 CYP2C19 (rs11592737), A/G 937 HSD17B1 (rs605059) Brazili
an
1000 (500 with
endometriosis,
500 women witho
ut endometriosi
s)
CYP2C19
HSD17B1
Show abstract
24796765 Endometrio
sis

4980 (2,271 wom
en with surgica
lly confirmed e
ndometriosis, t
he controls com
prised 939 wome
n with self-rep
ort of no endom
etriosis, 1,770
unscreened pop
ulation samples
)

Show abstract
21497341 Endometrio
sis
rs11592737
11473 (3,223 wo
men with surgic
ally confirmed
endometriosis,
1,190 women wit
hout endometrio
sis, 7,060 popu
lation samples)

Show abstract
20113968 Endometrio
sis
CYP17 T>C, CYP2C19 *2, CYP2C19 *3 polymorphisms
85 (46 patients
with endometri
osis, 39 health
y controls)
CYP17
CYP2C19
Show abstract
19499406 Endometrio
sis
CYP2C19*2, CYP2C19*3
100 (50 patient
s with endometr
iosis diagnosed
with surgery a
nd histopatholo
gy, 50 control
subjects

Show abstract