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

Summary

Official Symbol: CYP11B2provided by HGNC
Official Full Name: cytochrome P450 family 11 subfamily B member 2provided by HGNC
Primary source: HGNC:HGNC:2592
See related: Ensembl:ENSG00000179142 MIM:124080; AllianceGenome:HGNC:2592
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]
Expression: Restricted expression toward adrenal (RPKM 110.5) See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (142910559..142917843, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (144053900..144061172, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (143991975..143999259, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of combined -344T/C and K173R polymorphisms in aldosterone synthase gene with type 2 diabetes mellitus in the Moroccan population.
Title: Association of combined -344T/C and K173R polymorphisms in aldosterone synthase gene with type 2 diabetes mellitus in the Moroccan population.
Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency.
Title: Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency.
Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan.
Title: Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan.
Functional nodules in primary aldosteronism: identification of CXCR4 expression with [68]Ga-pentixafor PET/CT.
Title: Functional nodules in primary aldosteronism: identification of CXCR4 expression with (68)Ga-pentixafor PET/CT.
Changes of the CYP11B2 Expressing Zona Glomerulosa in Human Adrenals From Birth to 40 Years of Age.
Title: Changes of the CYP11B2 Expressing Zona Glomerulosa in Human Adrenals From Birth to 40 Years of Age.
Contribution of the ACE (rs1799752) and CYP11B2 (rs1799998) Gene Polymorphisms to Atrial Fibrillation in the Tunisian Population.
Title: Contribution of the ACE (rs1799752) and CYP11B2 (rs1799998) Gene Polymorphisms to Atrial Fibrillation in the Tunisian Population.
Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case-control study.
Title: Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case-control study.
Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2
Title: Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2.
Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
Title: Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism.
Title: Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism.

Submit: New GeneRIF Correction See all GeneRIFs (245)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Corticosterone 18-monooxygenase deficiency MedGen: C0268293 OMIM: 203400 GeneReviews: Not available	Compare labs
Corticosterone methyloxidase type 2 deficiency MedGen: C3463917 OMIM: 610600 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables corticosterone 18-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IC Inferred by Curator more info	PubMed
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables steroid 11-beta-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables steroid 11-beta-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables steroid 11-beta-monooxygenase activity	TAS Traceable Author Statement more info
enables steroid hydroxylase activity	TAS Traceable Author Statement more info

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

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IC Inferred by Curator more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome P450 11B2, mitochondrial

Names: 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

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.