InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP11B2

Summary

InnateDB Protein

IDBP-38047.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYP11B2

Protein Name

cytochrome P450, family 11, subfamily B, polypeptide 2

Synonyms

ALDOS; CPN2; CYP11B; CYP11BL; CYPXIB2; P-450C18; P450aldo; P450C18;

Species

Homo sapiens

Ensembl Protein

ENSP00000325822

InnateDB Gene

IDBG-38045 (CYP11B2)

Protein Structure

UniProt Annotation

Function

Preferentially catalyzes the conversion of 11- deoxycorticosterone to aldosterone via corticosterone and 18- hydroxycorticosterone. {ECO:0000269PubMed:23322723}.

Subcellular Localization

Mitochondrion membrane.

Disease Associations

Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) [MIM:203400]: Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal. {ECO:0000269PubMed:11238478, ECO:0000269PubMed:9177280}. Note=The disease is caused by mutations affecting the gene represented in this entry.Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]: Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18- hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18-hydroxycorticosterone in serum. {ECO:0000269PubMed:12788848, ECO:0000269PubMed:1346492, ECO:0000269PubMed:1594605, ECO:0000269PubMed:9625333, ECO:0000269PubMed:9814506}. Note=The disease is caused by mutations affecting the gene represented in this entry.Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004507	steroid 11-beta-monooxygenase activity
GO:0005506	iron ion binding
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037	heme binding
GO:0047783	corticosterone 18-monooxygenase activity

Biological Process

GO:0002017	regulation of blood volume by renal aldosterone
GO:0003091	renal water homeostasis
GO:0006700	C21-steroid hormone biosynthetic process
GO:0006705	mineralocorticoid biosynthetic process
GO:0006805	xenobiotic metabolic process
GO:0008202	steroid metabolic process
GO:0016125	sterol metabolic process
GO:0032342	aldosterone biosynthetic process
GO:0032870	cellular response to hormone stimulus
GO:0034651	cortisol biosynthetic process
GO:0035865	cellular response to potassium ion
GO:0044281	small molecule metabolic process
GO:0055075	potassium ion homeostasis
GO:0055078	sodium ion homeostasis
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001128 Cytochrome P450
IPR002397 Cytochrome P450, B-class
IPR002399 Cytochrome P450, mitochondrial
IPR002401 Cytochrome P450, E-class, group I
IPR002403 Cytochrome P450, E-class, group IV

PFAM

PF00067

PRINTS

PR00385
PR00359
PR00408
PR00463
PR00465

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P19099