Gene table of CYP11B2 : cytochrome P450 family 11 subfamily B member 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with CYP11B2OMIM linkNumber of associated genesgenes
203400CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1CYP11B2
610600CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1CYP11B2

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Annotation of the gene CYP11B2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 410, together with the genes:

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Steroid hormone biosynthesishsa001406.93
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Diseases of metabolismR-HSA-56689146.57
Glucocorticoid biosynthesisR-HSA-1940029.81
Phase 1 - Functionalization of compoundsR-HSA-2119456.7
Metabolism of steroid hormones and vitamin DR-HSA-1960717.89
Biological oxidationsR-HSA-2118595.55
Cytochrome P450 - arranged by substrate typeR-HSA-2118977.08
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)R-HSA-557900912.98
Endogenous sterolsR-HSA-2119768.46
MetabolismR-HSA-14307282.34
DiseaseR-HSA-16436853.33
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Mineralocorticoid biosynthesisR-HSA-19399310.4
Metabolic disorders of biological oxidation enzymesR-HSA-55790297.85
Associated GO terms for Molecular function
GO termGO IDGO IC
steroid 11-beta-monooxygenase activityGO:00045079.05
cation bindingGO:00431691.4
monooxygenase activityGO:00044975.1
metal ion bindingGO:00468721.41
transition metal ion bindingGO:00469142.48
heme bindingGO:00200374.86
tetrapyrrole bindingGO:00469064.8
organic cyclic compound bindingGO:00971591.05
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygenGO:00167054.65
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygenGO:00167137.79
ion bindingGO:00431671.36
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygenGO:00167096.07
catalytic activityGO:00038241.05
bindingGO:00054880.18
iron ion bindingGO:00055064.65
steroid hydroxylase activityGO:00083956.3
corticosterone 18-monooxygenase activityGO:00477839.05
heterocyclic compound bindingGO:19013631.06
oxidoreductase activityGO:00164913.12