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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 its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]
CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9) is a Protein Coding gene. Diseases associated with CYP2C9 include Coumarin Resistance and Diffuse Alveolar Hemorrhage. Among its related pathways are Phenytoin Pathway, Pharmacokinetics and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and heme binding. An important paralog of this gene is CYP2C19.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | NAS | 2827463 |
GO:0005506 | iron ion binding | IEA | -- |
GO:0008392 | arachidonic acid epoxygenase activity | IDA | 7574697 |
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 | Drug metabolism - cytochrome P450 |
Retinol metabolism
.31
|
Benzo[a]pyrene metabolism
.01
|
2 | Cytochrome P450 - arranged by substrate type |
.39
|
.01
Estradiol metabolism
.01
Vitamin D2 (ergocalciferol) metabolism
.01
|
3 | Statin Pathway - Generalized, Pharmacokinetics | ||
4 | Paroxetine Pathway, Pharmacokinetics | ||
5 | Hydrocodone pathway, pharmacokinetics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006082 | organic acid metabolic process | IBA | 21873635 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006805 | xenobiotic metabolic process | TAS | -- |
GO:0008202 | steroid metabolic process | IMP | 18356043 |
GO:0008203 | cholesterol metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Acenocoumarol | Approved, Investigational | Pharma | Enzyme, substrate | 46 | ||
Celecoxib | Approved, Investigational | Pharma | Enzyme, substrate | Selective cyclooxygenase-2 (COX-2) inhibitor | 552 | |
Flurbiprofen | Approved, Investigational | Pharma | Enzyme, substrate | 78 | ||
Ibuprofen | Approved | Pharma | Enzyme, substrate | 752 | ||
Meloxicam | Approved, Vet_approved | Pharma | Enzyme, substrate | 111 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
4'-Hydroxydiclofenac |
|
64118-84-9 | ||||
Paraxanthine |
|
611-59-6 | ||||
(-)-Limonene |
|
5989-54-8 |
|
|||
(-)-trans-Carveol |
|
2102-58-1 |
|
|||
(+)-trans-Carveol |
|
18383-51-2 |
|
|
Compound | Action | Cas Number |
---|---|---|
Amiodarone HCl | Anti-arrhythmic drug | 19774-82-4 |
Benzbromarone | 3562-84-3 | |
Gemfibrozil | 25812-30-0 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC100616515 30 |
|
||
CYP2C9 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | LOC505468 30 |
|
||
-- 31 |
|
ManyToMany | |||
CYP2C87 31 |
|
ManyToMany | |||
CYP2C18 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Cyp2c11 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cyp2c66 30 17 31 |
|
ManyToMany | |
Cyp2c65 17 31 |
|
ManyToMany | |||
Cyp2c29 31 |
|
ManyToMany | |||
Cyp2c39 31 |
|
ManyToMany | |||
Cyp2c50 31 |
|
ManyToMany | |||
Cyp2c37 31 |
|
ManyToMany | |||
Cyp2c38 31 |
|
ManyToMany | |||
Cyp2c54 31 |
|
ManyToMany | |||
Cyp2c69 31 |
|
ManyToMany | |||
Cyp2c67 31 |
|
ManyToMany | |||
Cyp2c68 31 |
|
ManyToMany | |||
Cyp2c40 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp18a1 32 |
|
|
|
Cyp303a1 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | F42A9.5 32 |
|
|
|
B0213.14 32 |
|
|
|||
C12D5.7 32 |
|
|
|||
F41B5.3 32 |
|
|
|||
B0213.12 32 |
|
|
|||
B0213.10 32 |
|
|
|||
C49C8.4 32 |
|
|
|||
F41B5.7 32 |
|
|
|||
F44C8.1 32 |
|
|
|||
K09A11.3 32 |
|
|
|||
T10H4.11 32 |
|
|
|||
Y49C4A.9 32 |
|
|
|||
B0304.3 32 |
|
|
|||
C34B7.3 32 |
|
|
|||
C41G6.1 32 |
|
|
|||
C45H4.17 32 |
|
|
|||
F41B5.2 32 |
|
|
|||
F41B5.4 32 |
|
|
|||
T10H4.10 32 |
|
|
|||
T09H2.1 32 |
|
|
|||
C45H4.2 32 |
|
|
|||
B0213.15 32 |
|
|
|||
F14H3.10 32 |
|
|
|||
K09D9.2 32 |
|
|
|||
C03G6.15 32 |
|
|
|||
C49G7.8 32 |
|
|
|||
K07C6.2 32 |
|
|
|||
K07C6.3 32 |
|
|
|||
K07C6.5 32 |
|
|
|||
R08F11.3 32 |
|
|
|||
B0213.16 32 |
|
|
|||
C25E10.2 32 |
|
|
|||
Y5H2B.6 32 |
|
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057910 | Drug Response: acenocoumarol response - Toxicity/ADR; Warfarin response; Glipizide response; Tolbutamide response; Phenytoin response; acenocoumarol response - Dosage, Toxicity/ADR; Antiinflammatory agents, non-steroids response - Toxicity/ADR; celecoxib response - Dosage; celecoxib response - Toxicity/ADR; diclofenac response - Toxicity/ADR; warfarin response - Dosage; warfarin response - Toxicity/ADR; Lesinurad response; Flurbiprofen response; Piroxicam response; not provided. - | 94,981,296(+) |
A/Cp.Ile359Leu CYP2C9*3 |
MISSENSE | |
rs144043022 | Likely Benign: not provided | 94,941,953(+) |
T/C NM_000771.4(CYP2C9):c.264T>C (p.Ile88=) |
SYNONYMOUS | |
rs1799853 | Drug Response: warfarin response - Efficacy, Toxicity/ADR; Warfarin response; Phenytoin response; not specified; warfarin response - Dosage; Lesinurad response; Flurbiprofen response; Piroxicam response; not provided. - | 94,942,290(+) |
C/Tp.Arg144Cys CYP2C9*2 |
MISSENSE | |
rs199741616 | Likely Benign: not provided | 94,988,863(+) |
G/T NM_000771.4(CYP2C9):c.1308G>T (p.Val436=) |
SYNONYMOUS | |
rs2017319 | Benign: not provided | 94,988,878(+) |
C/T NM_000771.4(CYP2C9):c.1323C>T (p.Ala441=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2674280 | CNV | deletion | 23128226 |
esv2739707 | CNV | deletion | 23290073 |
esv2741937 | CNV | deletion | 23290073 |
esv3624264 | CNV | gain | 21293372 |
esv3624265 | CNV | gain | 21293372 |
esv3891886 | CNV | loss | 25118596 |
nsv1035409 | CNV | loss | 25217958 |
nsv1047782 | CNV | gain | 25217958 |
nsv551962 | CNV | loss | 21841781 |
nsv551963 | CNV | loss | 21841781 |
nsv7497 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
coumarin resistance |
|
|
diffuse alveolar hemorrhage |
|
|
drug-induced hepatitis |
|
|
diaphragm disease |
|
|
small intestine diverticulitis |
|
|