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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. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
CYP2A13 (Cytochrome P450 Family 2 Subfamily A Member 13) is a Protein Coding gene. Diseases associated with CYP2A13 include Acetaminophen Metabolism and Distal Muscular Dystrophy With Anterior Tibial Onset. Among its related pathways are Cytochrome P450 - arranged by substrate type and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP2A6.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH19J041088 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -19 | 0.1 | CYP2A13 HSALNG0126164 CYP2B6 | ||
GH19J041135 | Promoter/Enhancer | 1 | FANTOM5 Ensembl ENCODE CraniofacialAtlas | 5.8 | +47.3 | 47250 | 2.2 | CYP2T3P lnc-CYP2F1-1 lnc-TGFB1-7 piR-57430-002 CYP2F1 CYP2A13 ENSG00000205041 B3GNT8 BCKDHA CYP2S1 | ||
GH19J040747 | Promoter/Enhancer | 2.7 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 2 | -335.7 | -335690 | 9.8 | BRCA1 SP1 CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 SIX5 LEF1 | SNRPA C19orf54 HNRNPUL1 ZNF780A ENSG00000269843 COQ8B AKT2 ZNF780B CCDC97 ITPKC | |
GH19J041127 | Enhancer | 0.8 | ENCODE | 5.7 | +39.5 | 39461 | 0.8 | PRDM10 ZNF629 IKZF1 ZNF692 ZNF143 ZIC2 PATZ1 CTCF ZNF501 ZNF341 | CYP2F1 CYP2A13 CYP2T3P lnc-TGFB1-7 CYP2S1 | |
GH19J041288 | Enhancer | 0.5 | FANTOM5 ENCODE dbSUPER | 6.1 | +200.8 | 200840 | 0.9 | CYP2A13 HNRNPUL1 B9D2 RF00017-2988 lnc-TGFB1-2 CCDC97 |
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 | 21873635 |
GO:0008395 | steroid hydroxylase activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA | -- |
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 | Cytochrome P450 - arranged by substrate type |
.39
.01
.01
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2 | Drug metabolism - cytochrome P450 | ||
3 | Aflatoxin activation and detoxification | ||
4 | Metabolism |
.40
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5 | Acetaminophen Pathway (therapeutic doses), Pharmacokinetics |
Acetaminophen metabolism
.42
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006082 | organic acid metabolic process | IBA | 21873635 |
GO:0006805 | xenobiotic metabolic process | TAS | -- |
GO:0009804 | coumarin metabolic process | TAS | -- |
GO:0019373 | epoxygenase P450 pathway | IBA | 21873635 |
GO:0042738 | exogenous drug catabolic process | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Nicotine | Approved | Pharma | Antagonist, Activator, Activation, Enzyme, substrate | 1518 | ||
Methoxsalen | Approved | Pharma | Enzyme, inhibitor | 47 | ||
Testosterone | Approved, Experimental, Investigational | Pharma | Enzyme, substrate | Endogenous androgen receptor agonist | 660 | |
Testosterone cypionate | Approved | Pharma | Enzyme, substrate | 0 | ||
Testosterone enanthate | Approved | Pharma | Enzyme, substrate | 320 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
11,12,15-THETA |
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11,12-EpETrE |
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81276-02-0 |
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11,14,15-THETA |
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11H-14,15-EETA |
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219535-29-2 |
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12,13-EpOME |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | CYP2A13 31 31 |
|
ManyToMany | |
Mouse (Mus musculus) |
Mammalia | Cyp2a4 31 |
|
ManyToMany | |
Cyp2a5 30 31 |
|
ManyToMany | |||
Cyp2a12 31 |
|
ManyToMany | |||
Cyp2a22 31 |
|
ManyToMany | |||
Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
ManyToMany | |
Rat (Rattus norvegicus) |
Mammalia | Cyp2a3 30 |
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||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC548374 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.43 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | zgc55856 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp303a1 32 |
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Cyp304a1 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | cyp-36A1 30 |
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C50H11.15 32 |
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K09A11.3 32 |
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C34B7.3 32 |
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C49C8.4 32 |
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F41B5.3 32 |
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F42A9.5 32 |
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K05D4.4 32 |
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K09A11.2 32 |
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K09A11.4 32 |
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C45H4.17 32 |
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R08F11.3 32 |
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Y49C4A.9 32 |
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B0213.11 32 |
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B0213.15 32 |
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B0304.3 32 |
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C03G6.15 32 |
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F14H3.10 32 |
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F41B5.2 32 |
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F41B5.4 32 |
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F44C8.1 32 |
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K07C6.2 32 |
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K07C6.3 32 |
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T10H4.10 32 |
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T10H4.11 32 |
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B0213.14 32 |
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C49G7.8 32 |
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F41B5.7 32 |
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K07C6.5 32 |
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K09D9.2 32 |
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Y5H2B.6 32 |
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B0213.10 32 |
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C03G6.14 32 |
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C12D5.7 32 |
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C25E10.2 32 |
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C41G6.1 32 |
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SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs112337232 | - | p.Asp158Glu | |||
rs138870349 | - | p.Arg494Cys | |||
rs148044792 | - | p.Arg101Gln | |||
rs72547590 | - | p.Phe453Tyr | |||
rs8192784 | - | p.Arg25Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1065684 | CNV | gain | 25217958 |
nsv1066637 | CNV | gain | 25217958 |
nsv1125310 | OTHER | inversion | 24896259 |
nsv2491 | CNV | deletion | 18451855 |
nsv978819 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
acetaminophen metabolism |
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distal muscular dystrophy with anterior tibial onset |
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