Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1555
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CYP2B6   Gene   UCSC   Ensembl
Aliases CPB6, CYP2B, CYP2B7, CYP2B7P, CYPIIB6, EFVM, IIB1, P450
Gene name cytochrome P450 family 2 subfamily B member 6
Alternate names cytochrome P450 2B6, 1,4-cineole 2-exo-monooxygenase, cytochrome P450 IIB1, cytochrome P450, family 2, subfamily B, polypeptide 6, cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6,
Gene location 19q13.2 (40991199: 41018401)     Exons: 11     NC_000019.10
Gene summary(Entrez) This gene, CYP2B6, 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 phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
OMIM 123930

Protein Summary

Protein general information P20813  

Name: Cytochrome P450 2B6 (EC 1.14.13. ) (1,4 cineole 2 exo monooxygenase) (CYPIIB6) (Cytochrome P450 IIB1)

Length: 491  Mass: 56,278

Tissue specificity: Expressed in liver, lung and heart right ventricle. {ECO

Sequence MELSVLLFLALLTGLLLLLVQRHPNTHDRLPPGPRPLPLLGNLLQMDRRGLLKSFLRFREKYGDVFTVHLGPRPV
VMLCGVEAIREALVDKAEAFSGRGKIAMVDPFFRGYGVIFANGNRWKVLRRFSVTTMRDFGMGKRSVEERIQEEA
QCLIEELRKSKGALMDPTFLFQSITANIICSIVFGKRFHYQDQEFLKMLNLFYQTFSLISSVFGQLFELFSGFLK
YFPGAHRQVYKNLQEINAYIGHSVEKHRETLDPSAPKDLIDTYLLHMEKEKSNAHSEFSHQNLNLNTLSLFFAGT
ETTSTTLRYGFLLMLKYPHVAERVYREIEQVIGPHRPPELHDRAKMPYTEAVIYEIQRFSDLLPMGVPHIVTQHT
SFRGYIIPKDTEVFLILSTALHDPHYFEKPDAFNPDHFLDANGALKKTEAFIPFSLGKRICLGEGIARAELFLFF
TTILQNFSMASPVAPEDIDLTPQECGVGKIPPTYQIRFLPR
Structural information
Interpro:  IPR001128 IPR017972 IPR002401 IPR008068
Prosite:   PS00086

Pfam:  
PF00067

PDB:  
3IBD 3QOA 3QU8 3UA5 4I91 4RQL 4RRT 4ZV8
PDBsum:   3IBD 3QOA 3QU8 3UA5 4I91 4RQL 4RRT 4ZV8
STRING:   ENSP00000324648;
Other Databases GeneCards:  CYP2B6;  Malacards:  CYP2B6

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004497 monooxygenase activity
IDA molecular_function
GO:0005506 iron ion binding
IEA molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006805 xenobiotic metabolic proc
ess
IDA biological_process
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
IBA 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:0017144 drug metabolic process
IMP biological_process
GO:0017144 drug metabolic process
IDA biological_process
GO:0019373 epoxygenase P450 pathway
IBA biological_process
GO:0019825 oxygen binding
TAS molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0042180 cellular ketone metabolic
process
IDA biological_process
GO:0042738 exogenous drug catabolic
process
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0004497 monooxygenase activity
IEA molecular_function
GO:0004497 monooxygenase activity
IEA molecular_function
GO:0004497 monooxygenase activity
IDA 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:0006805 xenobiotic metabolic proc
ess
IDA biological_process
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
IBA molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0016491 oxidoreductase activity
IEA 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:0017144 drug metabolic process
IMP biological_process
GO:0017144 drug metabolic process
IDA biological_process
GO:0019373 epoxygenase P450 pathway
IBA biological_process
GO:0019825 oxygen binding
TAS molecular_function
GO:0020037 heme binding
IEA molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0031090 organelle membrane
IEA cellular_component
GO:0042180 cellular ketone metabolic
process
IDA biological_process
GO:0042738 exogenous drug catabolic
process
IDA biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IEA cellular_component
GO:0046872 metal ion binding
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:0004497 monooxygenase activity
IDA molecular_function
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0006805 xenobiotic metabolic proc
ess
IDA biological_process
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
IBA molecular_function
GO:0017144 drug metabolic process
IMP biological_process
GO:0017144 drug metabolic process
IDA biological_process
GO:0019373 epoxygenase P450 pathway
IBA biological_process
GO:0019825 oxygen binding
TAS molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0042180 cellular ketone metabolic
process
IDA biological_process
GO:0042738 exogenous drug catabolic
process
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa00590  Arachidonic acid metabolism
hsa00980  Metabolism of xenobiotics by cytochrome P450
hsa00982  Drug metabolism - cytochrome P450
hsa00830  Retinol metabolism

Diseases

Associated diseases References
Acute coronary syndrome PMID: 19106084
Cancer PMID: 12242601
Endometriosis PMID: 22393305
Female infertility PMID: 19342032
Idiopathic male infertility PMID: 24488272
Pelvic endometriosis PMID: 12372463
Polycystic ovary syndrome (PCOS) PMID: 16798289
Premature ovarian failure ( POF) PMID: 15248218
Female infertility INFBASE22393305
Endometriosis INFBASE22393305
Subfertility INFBASE16708809
Female infertility INFBASE12372463
Pelvic endometriosis INFBASE12372463
Leiomyomas INFBASE10593388
Adenomyosis INFBASE10593388
Endometriosis INFBASE10593388

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22393305 Endometrio
sis

122 (106 patien
ts of dysmenorr
hea and inferti
lity, 16 endome
triosis-free as
ymptomatic pati
ents)
Female infertility
Show abstract
19137777 Endometrio
sis

40 (14 patients
with ovarian e
ndometriosis, 2
6 with adenomyo
sis)

Show abstract
16708809 Endometrio
sis

58 (36 endometr
iosis women, 22
non-endometrio
sis but subfert
ility or pelvic
pain women ser
ved as controls
)
Female infertility P450
CA125
Show abstract
12372463 Endometrio
sis (Pelvi
c)

60 subjects of
reproductive ag
e undergoing la
paroscopy for s
ubfertility exp
loration, pain
assessment, or
sterilization
Female infertility P450
Show abstract
10593388 Endometrio
sis

105 women of re
productive age
with normal men
strual cycles u
nderwent endome
trial biopsy la
parotomy or lap
aroscopy, and e
xamination of t
heir tissue rev
ealed endometri
osis, adenomyos
is, and/or leio
myomas
Female infertility
Show abstract