CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: CYP11B2provided by HGNC
Official Full Name: cytochrome P450, family 11, subfamily B, polypeptide 2provided by HGNC
Primary source: HGNC:2592
See related: Ensembl:ENSG00000179142; HPRD:00492; MIM:124080; Vega:OTTHUMG00000160254
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPN2; ALDOS; CYP11B; CYP11BL; CYPXIB2; P450C18; P-450C18; P450aldo
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]

Genomic context

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Location :: 8q21-q22

Sequence :: Chromosome: 8; NC_000008.10 (143991975..143999259, complement)

See CYP11B2 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

3-Pyridyl substituted aliphatic cycles as CYP11B2 inhibitors: aromaticity abolishment of the core significantly increased selectivity over CYP1A2
Title: 3-Pyridyl substituted aliphatic cycles as CYP11B2 inhibitors: aromaticity abolishment of the core significantly increased selectivity over CYP1A2.
reports the first CYP11B2 defects in Southeast Asian families responsible for aldosterone synthase deficiency and identifies a novel mutation (c.666delC)inherited from both parents.
Title: Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.
Functional analysis of heterozygous human adrenal tissue demonstrated decreased CYP11B2 expression and increased CYP11B1 expression for those alleles associating with reduced risk of hypertension.
Title: Common polymorphisms in the CYP11B1 and CYP11B2 genes: evidence for a digenic influence on hypertension.
The findings of this study suggested a significant association of CYP11B2 (-344C/T) polymorphism with stroke but intron 2 polymorphism is not associated with increased stroke susceptibility.
Title: Association of CYP11B2 gene polymorphism with ischemic stroke in the north Chinese Han population.
Report role of CYP11B2 in metandienone metabolism.
Title: Unexpected contribution of cytochrome P450 enzymes CYP11B2 and CYP21, as well as CYP3A4 in xenobiotic androgen elimination - insights from metandienone metabolism.
Small molecule inhibition of the APEX1 repressor or treatment with small interfering RNA (siRNA) leads to increased CYP11B2 transcription.
Title: APEX1 regulation of aldosterone synthase gene transcription is disrupted by a common polymorphism in humans.
The G allele of CYP11B2 rs1799998 polymorphism is highly associated with coronary heart disease and severity of coronary atherosclerosis. Interaction of rs1799998, age, and smoking status is also associated with enhanced risk of coronary artery disease.
Title: Renin-angiotensin-aldosterone system gene polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions.
This study demonstrates a novel insight into intracellular mechanism of VLDL-mediated aldosterone synthesis through transcriptional regulation of steroidogenic acute regulatory protein and Cyp11B2 expression.
Title: Very-low-density lipoprotein mediates transcriptional regulation of aldosterone synthase in human adrenocortical cells through multiple signaling pathways.
For female patients, no association was found between CYP11B2 -344T/C polymorphism and aldosterone level.
Title: [Effect of CYP11B2 gene -344T/C polymorphism on renin-angiotensin-aldosterone system activity and blood pressure response to hydrochlorothiazide].
The present investigation demonstrates a possible association between the polymorphisms existing in the renin-angiotensin-aldosterone system pathway T174M and CYP11B2 C-344T and sensitivity of an individual to develop high-altitude pulmonary edema.
Title: Association of polymorphisms in angiotensin and aldosterone synthase genes of the renin-angiotensin-aldosterone system with high-altitude pulmonary edema.

Submit: New GeneRIF Correction See all (149)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Corticosterone methyloxidase type 1 deficiency

MIM: 203400

Genetic Testing Registry

Corticosterone methyloxidase type 2 deficiency

MIM: 610600

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs
P19099	P05108	CYP11A1	HPRD	PubMed
P19099	P15538	CYP11B1	HPRD	PubMed
P19099	P10109	FDX1	HPRD	PubMed

Pathways from BioSystems

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ACE Inhibitor Pathway, organism-specific biosystem (from WikiPathways)
ACE Inhibitor Pathway, organism-specific biosystemThe core of this pathway was elucidated over a century ago and involves the conversion of angiotensinogen to angiotensin I (Ang I) by renin, its subsequent conversion to angiotensin II (Ang II) by an...
Biological oxidations, organism-specific biosystem (from REACTOME)
Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosterone, organism-specific biosystem (from KEGG)
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosterone, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Sterol biosynthesis
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosterone, conserved biosystem (from KEGG)
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosterone, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Sterol biosynthesis
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone, organism-specific biosystem (from KEGG)
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Sterol biosynthesis
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone, conserved biosystem (from KEGG)
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Sterol biosynthesis
Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
Endogenous sterols, organism-specific biosystem (from REACTOME)
Endogenous sterols, organism-specific biosystemA number of CYPs take part in cholesterol biosynthesis and elimination, thus playing an important role in maintaining cholesterol homeostasis. Under normal physiological conditions, cholesterol intak...
Glucocorticoid & Mineralcorticoid Metabolism, organism-specific biosystem (from WikiPathways)
Glucocorticoid & Mineralcorticoid Metabolism, organism-specific biosystem
Glucocorticoid & Mineralcorticoid Metabolism
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
Metabolism of steroid hormones and vitamin D, organism-specific biosystem (from REACTOME)
Metabolism of steroid hormones and vitamin D, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
Mineralocorticoid biosynthesis, organism-specific biosystem (from REACTOME)
Mineralocorticoid biosynthesis, organism-specific biosystemAldosterone, the major human mineralocorticoid, is synthesized in the zona glomerulosa of the adrenal cortex from pregnenolone. Pregnenolone is converted to progesterone in two reactions, both cataly...
Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
Steroid hormone biosynthesis, organism-specific biosystem (from KEGG)
Steroid hormone biosynthesis, organism-specific biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
Steroid hormone biosynthesis, conserved biosystem (from KEGG)
Steroid hormone biosynthesis, conserved biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
cytochrome P450, organism-specific biosystem (from WikiPathways)
cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
metapathway biotransformation, organism-specific biosystem (from WikiPathways)
metapathway biotransformation, organism-specific biosystem
metapathway biotransformation
mineralocorticoid biosynthesis, organism-specific biosystem (from BIOCYC)
mineralocorticoid biosynthesis, organism-specific biosystemAbout this Pathway This pathway describes the biosynthesis of aldosterone from the δ 5-3 hydroxy steroid, pregnenolone. The initial step is the catalysis of pregnenolone to progesterone. This ...
mineralocorticoid biosynthesis, conserved biosystem (from BIOCYC)
mineralocorticoid biosynthesis, conserved biosystemThis pathway describes the biosynthesis of aldosterone from the δ 5-3 hydroxy steroid, pregnenolone. The initial step is the catalysis of pregnenolone to progesterone. This conversion is carrie...

General gene information

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Markers

RH18106 (e-PCR)
- UniSTS:38913

RH79160 (e-PCR)
- UniSTS:49960

GDB:635986 (e-PCR)
- UniSTS:158516

CYP11B1_2340 (e-PCR)
- UniSTS:280634

CYP11B2_1990 (e-PCR)
- UniSTS:280635

RH121974 (e-PCR)
- UniSTS:94865

STS-M32879 (e-PCR)
- UniSTS:64229

NoName (e-PCR)
- UniSTS:480749

PMC60851P1 (e-PCR)
- UniSTS:273404

Genotypes

See CYP11B2 SNP Geneview Report
See CYP11B2 SNP Genotype Report
See CYP11B2 SNP Variation Viewer Report

Homology

Homologs of the CYP11B2 gene: The CYP11B2 gene is conserved in Rhesus monkey, dog, mouse, and zebrafish.
Map Viewer (Mouse)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
corticosterone 18-monooxygenase activity	IEA Inferred from Electronic Annotation more info
electron carrier activity	IEA Inferred from Electronic Annotation more info
heme binding	IC Inferred by Curator more info	PubMed
heme binding	IDA Inferred from Direct Assay more info
iron ion binding	IEA Inferred from Electronic Annotation more info
steroid 11-beta-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
C21-steroid hormone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
aldosterone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
aldosterone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to hormone stimulus	IEP Inferred from Expression Pattern more info	PubMed
cellular response to potassium ion	IEP Inferred from Expression Pattern more info	PubMed
cortisol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
NOT cortisol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
mineralocorticoid biosynthetic process	TAS Traceable Author Statement more info
potassium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of blood volume by renal aldosterone	IMP Inferred from Mutant Phenotype more info	PubMed
renal water homeostasis	IC Inferred by Curator more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
sodium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
steroid metabolic process	TAS Traceable Author Statement more info
xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrial inner membrane	IC Inferred by Curator more info	PubMed
mitochondrial inner membrane	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome P450 11B2, mitochondrial

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

NP_000489.3

EC 1.14.15.4

EC 1.14.15.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008374.1 RefSeqGene

Range

5001..12285

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000498.3 → NP_000489.3 cytochrome P450 11B2, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AC073385, X54741

Consensus CDS

CCDS6393.1

UniProtKB/Swiss-Prot

P19099

Related

ENSP00000325822, OTTHUMP00000217871, ENST00000323110, OTTHUMT00000359904

Conserved Domains (2) summary

COG2124
Location:41 – 452
Blast Score: 288

CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]

pfam00067
Location:42 – 454
Blast Score: 819

p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p10 Primary Assembly

Range

143991975..143999259, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

139244244..139251515, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018919.1 Alternate CHM1_1.0

Range

144266555..144273844, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01005284.1 (17496..24767)	None
genomic	AC073385.14 (108236..112434)	None
genomic	AMYH01019094.1 (53559..60848)	None
genomic	CH471162.2	EAW82292.1
genomic	D10170.1	BAA01040.1
genomic	D13752.1	BAA02899.1
genomic	EU326306.1	ACA05912.1
genomic	M32881.1	AAA35741.1
genomic	S77397.1	AAB34642.1
genomic	S77409.1	AAB34643.1
mRNA	X54741.1	CAA38539.1
other-genetic	BC111458.3	AAI11459.1