Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1544
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CYP1A2   Gene   UCSC   Ensembl
Aliases CP12, P3-450, P450(PA)
Gene name cytochrome P450 family 1 subfamily A member 2
Alternate names cytochrome P450 1A2, CYPIA2, P450 form 4, aryl hydrocarbon hydroxylase, cholesterol 25-hydroxylase, cytochrome P(3)450, cytochrome P450 4, cytochrome P450, family 1, subfamily A, polypeptide 2, cytochrome P450, subfamily I (aromatic compound-inducible), polypepti,
Gene location 15q24.1 (74748842: 74756599)     Exons: 7     NC_000015.10
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. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
OMIM 124060

SNPs

rs762551

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000677.2   g.74749576C>A
NC_000015.10   g.74749576C>A
NC_000015.9   g.75041917C>A
NG_008431.2   g.32035C>A
NG_055245.1   g.5246C>A
NM_000761.4   c.-9-154C>A

Protein Summary

Protein general information P05177  

Name: Cytochrome P450 1A2 (EC 1.14.14.1) (CYPIA2) (Cholesterol 25 hydroxylase) (Cytochrome P(3)450) (Cytochrome P450 4) (Cytochrome P450 P3)

Length: 515  Mass: 58,294

Tissue specificity: Liver.

Sequence MALSQSVPFSATELLLASAIFCLVFWVLKGLRPRVPKGLKSPPEPWGWPLLGHVLTLGKNPHLALSRMSQRYGDV
LQIRIGSTPVLVLSRLDTIRQALVRQGDDFKGRPDLYTSTLITDGQSLTFSTDSGPVWAARRRLAQNALNTFSIA
SDPASSSSCYLEEHVSKEAKALISRLQELMAGPGHFDPYNQVVVSVANVIGAMCFGQHFPESSDEMLSLVKNTHE
FVETASSGNPLDFFPILRYLPNPALQRFKAFNQRFLWFLQKTVQEHYQDFDKNSVRDITGALFKHSKKGPRASGN
LIPQEKIVNLVNDIFGAGFDTVTTAISWSLMYLVTKPEIQRKIQKELDTVIGRERRPRLSDRPQLPYLEAFILET
FRHSSFLPFTIPHSTTRDTTLNGFYIPKKCCVFVNQWQVNHDPELWEDPSEFRPERFLTADGTAINKPLSEKMML
FGMGKRRCIGEVLAKWEIFLFLAILLQQLEFSVPPGVKVDLTPIYGLTMKHARCEHVQARRFSIN
Structural information
Interpro:  IPR001128 IPR017972 IPR002401 IPR008066
Prosite:   PS00086

Pfam:  
PF00067

PDB:  
2HI4
PDBsum:   2HI4
STRING:   ENSP00000342007;
Other Databases GeneCards:  CYP1A2;  Malacards:  CYP1A2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004497 monooxygenase activity
IDA 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: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: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: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:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006706 steroid catabolic process
IMP biological_process
GO:0006778 porphyrin-containing comp
ound metabolic process
IEA biological_process
GO:0006805 xenobiotic metabolic proc
ess
TAS biological_process
GO:0006805 xenobiotic metabolic proc
ess
TAS biological_process
GO:0009055 electron carrier activity
TAS molecular_function
GO:0009403 toxin biosynthetic proces
s
IDA biological_process
GO:0009791 post-embryonic developmen
t
IEA biological_process
GO:0009820 alkaloid metabolic proces
s
IDA biological_process
GO:0010468 regulation of gene expres
sion
IEA biological_process
GO:0016098 monoterpenoid metabolic p
rocess
IDA biological_process
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016712 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n, reduced flavin or flav
oprotein as one donor, an
d incorporation of one at
om of oxygen
IMP molecular_function
GO:0017144 drug metabolic process
IDA biological_process
GO:0017144 drug metabolic process
IDA biological_process
GO:0018894 dibenzo-p-dioxin metaboli
c process
IEA 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:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0030324 lung development
IEA biological_process
GO:0032259 methylation
TAS biological_process
GO:0032355 response to estradiol
IEA biological_process
GO:0032451 demethylase activity
IDA molecular_function
GO:0032496 response to lipopolysacch
aride
IEA biological_process
GO:0032787 monocarboxylic acid metab
olic process
IDA biological_process
GO:0034875 caffeine oxidase activity
IDA molecular_function
GO:0035902 response to immobilizatio
n stress
IEA biological_process
GO:0042737 drug catabolic process
IMP biological_process
GO:0042738 exogenous drug catabolic
process
IDA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0045333 cellular respiration
IEA biological_process
GO:0046483 heterocycle metabolic pro
cess
IDA biological_process
GO:0050665 hydrogen peroxide biosynt
hetic process
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0070330 aromatase activity
IEA molecular_function
GO:0070989 oxidative demethylation
IDA biological_process
GO:0071276 cellular response to cadm
ium ion
IEA biological_process
GO:0071615 oxidative deethylation
IDA biological_process
GO:0097267 omega-hydroxylase P450 pa
thway
TAS biological_process
GO:0004497 monooxygenase activity
IEA molecular_function
GO:0004497 monooxygenase activity
IEA molecular_function
GO:0004497 monooxygenase activity
IDA 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: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: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: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:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006629 lipid metabolic process
IEA biological_process
GO:0006706 steroid catabolic process
IMP biological_process
GO:0006725 cellular aromatic compoun
d metabolic process
IEA biological_process
GO:0006778 porphyrin-containing comp
ound metabolic process
IEA biological_process
GO:0006805 xenobiotic metabolic proc
ess
TAS biological_process
GO:0006805 xenobiotic metabolic proc
ess
TAS biological_process
GO:0008202 steroid metabolic process
IEA biological_process
GO:0009055 electron carrier activity
TAS molecular_function
GO:0009403 toxin biosynthetic proces
s
IDA biological_process
GO:0009404 toxin metabolic process
IEA biological_process
GO:0009791 post-embryonic developmen
t
IEA biological_process
GO:0009820 alkaloid metabolic proces
s
IDA biological_process
GO:0010033 response to organic subst
ance
IEA biological_process
GO:0010468 regulation of gene expres
sion
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
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:0016712 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n, reduced flavin or flav
oprotein as one donor, an
d incorporation of one at
om of oxygen
IEA molecular_function
GO:0016712 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n, reduced flavin or flav
oprotein as one donor, an
d incorporation of one at
om of oxygen
IEA molecular_function
GO:0016712 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n, reduced flavin or flav
oprotein as one donor, an
d incorporation of one at
om of oxygen
IMP molecular_function
GO:0017144 drug metabolic process
IEA biological_process
GO:0017144 drug metabolic process
IDA biological_process
GO:0017144 drug metabolic process
IDA biological_process
GO:0018894 dibenzo-p-dioxin metaboli
c process
IEA 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:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0020037 heme binding
IEA molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0030324 lung development
IEA biological_process
GO:0031090 organelle membrane
IEA cellular_component
GO:0032259 methylation
TAS biological_process
GO:0032355 response to estradiol
IEA biological_process
GO:0032451 demethylase activity
IDA molecular_function
GO:0032496 response to lipopolysacch
aride
IEA biological_process
GO:0032787 monocarboxylic acid metab
olic process
IDA biological_process
GO:0034875 caffeine oxidase activity
IDA molecular_function
GO:0035902 response to immobilizatio
n stress
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042737 drug catabolic process
IMP biological_process
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
IEA cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0045333 cellular respiration
IEA biological_process
GO:0046483 heterocycle metabolic pro
cess
IDA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0050665 hydrogen peroxide biosynt
hetic process
IEA biological_process
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:0070330 aromatase activity
IEA molecular_function
GO:0070989 oxidative demethylation
IDA biological_process
GO:0071276 cellular response to cadm
ium ion
IEA biological_process
GO:0071615 oxidative deethylation
IDA biological_process
GO:0097267 omega-hydroxylase P450 pa
thway
TAS biological_process
GO:0004497 monooxygenase activity
IDA 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: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: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: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:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006706 steroid catabolic process
IMP biological_process
GO:0006805 xenobiotic metabolic proc
ess
TAS biological_process
GO:0006805 xenobiotic metabolic proc
ess
TAS biological_process
GO:0009055 electron carrier activity
TAS molecular_function
GO:0009403 toxin biosynthetic proces
s
IDA biological_process
GO:0009820 alkaloid metabolic proces
s
IDA biological_process
GO:0016098 monoterpenoid metabolic p
rocess
IDA biological_process
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016712 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n, reduced flavin or flav
oprotein as one donor, an
d incorporation of one at
om of oxygen
IMP molecular_function
GO:0017144 drug metabolic process
IDA biological_process
GO:0017144 drug metabolic process
IDA 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:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019825 oxygen binding
TAS molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0032259 methylation
TAS biological_process
GO:0032451 demethylase activity
IDA molecular_function
GO:0032787 monocarboxylic acid metab
olic process
IDA biological_process
GO:0034875 caffeine oxidase activity
IDA molecular_function
GO:0042737 drug catabolic process
IMP biological_process
GO:0042738 exogenous drug catabolic
process
IDA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA 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:0070989 oxidative demethylation
IDA biological_process
GO:0071615 oxidative deethylation
IDA biological_process
GO:0097267 omega-hydroxylase P450 pa
thway
TAS biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis
hsa05204  Chemical carcinogenesis
hsa00980  Metabolism of xenobiotics by cytochrome P450
hsa00982  Drug metabolism - cytochrome P450
hsa00830  Retinol metabolism
hsa00591  Linoleic acid metabolism
hsa00380  Tryptophan metabolism
hsa00232  Caffeine metabolism

Diseases

Associated diseases References
Asthma PMID: 12732846
Cryptorchidism PMID: 22648180
Depression PMID: 19593158
Endometrial cancer PMID: 18318428
Endometriosis PMID: 10764452
Fetal loss PMID: 16782969
Hypospadias PMID: 22648180
Macular degeneration PMID: 15774926
Mental development PMID: 19860743
Myocardial infarction PMID: 15466009
Parkinson's disease PMID: 18759349
Polydipsia PMID: 16775389
Porphyria PMID: 14714565
Recurrent miscarriage PMID: 15299091
Rheumatoid arthritis PMID: 18496682
Endometriosis INFBASE10764452
Schizophrenia PMID: 15505641
Tardive dyskinesia PMID: 12790158

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
10764452 Endometrio
sis
CYP1A1, CYP1A2, CYP1B1
43 (33 eutopic
endometrial tis
sue samples, 10
endometriotic
tissue samples)
Female infertility CYP1A1
CYP1A2
CYP1B1
Show abstract