CYP11B2: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

CYP11B2

Aliases

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

Entrez Gene ID

1585

Gene Name

Cytochrome P450 family 11 subfamily B member 2

Chromosomal Location

8q24.3

HGNC ID

HGNC:2592

Summary

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 mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_008374.1

RefSeq mRNA

NM_000498.3

e!Ensembl

Gene	ENSG00000179142
Transcript	ENST00000323110
Protein	ENSP00000325822

Gene Ontology (GO)

Show/Hide all(25 )

GO ID	Ontology	Function	Evidence	Reference
GO:0002017	Biological process	Regulation of blood volume by renal aldosterone	IMP	14614232
GO:0003091	Biological process	Renal water homeostasis	IC	2256920
GO:0006700	Biological process	C21-steroid hormone biosynthetic process	IBA	21873635
GO:0006700	Biological process	C21-steroid hormone biosynthetic process	IDA	2256920
GO:0006704	Biological process	Glucocorticoid biosynthetic process	IBA	21873635
GO:0008203	Biological process	Cholesterol metabolic process	IBA	21873635
GO:0032342	Biological process	Aldosterone biosynthetic process	IBA	21873635
GO:0032342	Biological process	Aldosterone biosynthetic process	IDA	1741400, 2256920, 23322723
GO:0032342	Biological process	Aldosterone biosynthetic process	IMP	19342457
GO:0032870	Biological process	Cellular response to hormone stimulus	IEP	19342457
GO:0034650	Biological process	Cortisol metabolic process	IBA	21873635
GO:0034651	Biological process	Cortisol biosynthetic process	IMP	19342457
GO:0034651	Biological process	Cortisol biosynthetic process	IMP	9703385
GO:0035865	Biological process	Cellular response to potassium ion	IEP	19342457
GO:0055075	Biological process	Potassium ion homeostasis	IMP	9838244
GO:0055078	Biological process	Sodium ion homeostasis	IMP	9838244
GO:0071375	Biological process	Cellular response to peptide hormone stimulus	IBA	21873635
GO:0005739	Cellular component	Mitochondrion	IDA	1741400, 2256920
GO:0005743	Cellular component	Mitochondrial inner membrane	IBA	21873635
GO:0005743	Cellular component	Mitochondrial inner membrane	IC	2256920
GO:0004507	Molecular function	Steroid 11-beta-monooxygenase activity	IBA	21873635
GO:0004507	Molecular function	Steroid 11-beta-monooxygenase activity	IDA	1741400, 2256920, 23322723
GO:0020037	Molecular function	Heme binding	IC	2256920
GO:0020037	Molecular function	Heme binding	IDA	23322723
GO:0047783	Molecular function	Corticosterone 18-monooxygenase activity	IBA	21873635

Protein Information

Protein Name

Cytochrome P450 11B2, mitochondrial, aldosterone synthase, aldosterone-synthesizing enzyme, corticosterone 18-monooxygenase, CYP11B2, cytochrome P-450Aldo, cytochrome P-450C18, cytochrome P450, family 11, subfamily B, polypeptide 2, cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2, mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2, steroid 11-beta-hydroxylase, CYP11B2, steroid 11-beta-monooxygenase, steroid 11-beta/18-hydroxylase, steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo

Function

A cytochrome P450 monooxygenase that catalyzes the biosynthesis of adrenal mineralocorticoid aldosterone. Catalyzes three sequential oxidative reactions of 11-deoxycorticosterone/21-hydroxyprogesterone, namely 11-beta hydroxylation followed with two successive oxidations at C18 to yield 18-hydroxy and then 18-aldehyde derivatives, resulting in the formation of aldosterone. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin)

Refseq Proteins

NP_000489.3

UniProt

P19099

PDB

4DVQ, 4FDH, 4ZGX

Pfam

Pfam Accession	Pfam ID
PF00067	p450