Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cyp11b2provided by MGI
Official Full Name: cytochrome P450, family 11, subfamily b, polypeptide 2provided by MGI
Primary source: MGI:MGI:88584
See related: Ensembl:ENSMUSG00000022589 AllianceGenome:MGI:88584
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cpn2; ALDOS; Cyp11b; Cyp11b-2
Summary: Enables steroid 11-beta-monooxygenase activity. Acts upstream of or within several processes, including aldosterone biosynthetic process; drinking behavior; and regulation of systemic arterial blood pressure by hormone. Located in mitochondrion. Is expressed in adrenal gland and gland. Human ortholog(s) of this gene implicated in several diseases, including congenital adrenal hyperplasia; corticosterone methyloxidase deficiency 1; diabetes mellitus (multiple); hypertension (multiple); and primary hyperaldosteronism (multiple). Orthologous to several human genes including CYP11B2 (cytochrome P450 family 11 subfamily B member 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward adrenal adult (RPKM 151.7) See more
Orthologs: human all
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Genomic context

Location:: 15 D3; 15 34.29 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (74722467..74728080, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (74850618..74856231, complement)

Chromosome 15 - NC_000081.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Chronic activation of adrenal Gq signaling induces Cyp11b2 expression in the zona fasciculata and hyperaldosteronism.
Title: Chronic activation of adrenal Gq signaling induces Cyp11b2 expression in the zona fasciculata and hyperaldosteronism.
Evidence for local aldosterone synthesis in the large intestine of the mouse.
Title: Evidence for local aldosterone synthesis in the large intestine of the mouse.
The requirement of the adrenal clock to stabilize the circadian Glucocorticoid rhythm during exposure to aberrant Light-dark cycles was determined using novel aldosterone synthase (AS)Cre/+::Bmal1Fl/Fl mice in which Bmal1 deletion occurred during postnatal adrenal transdifferentiation.
Title: The Adrenal Clock Prevents Aberrant Light-Induced Alterations in Circadian Glucocorticoid Rhythms.
Aldosterone synthase knockout mouse shows odium-induced endothelial sodium channel up-regulation in vascular endothelium
Title: Aldosterone synthase knockout mouse as a model for sodium-induced endothelial sodium channel up-regulation in vascular endothelium.
Aldosterone synthase (CYP11B2) is a key regulator of fibrotic remodeling during atrial fibrillation.
Title: Inhibition of aldosterone synthase (CYP11B2) by torasemide prevents atrial fibrosis and atrial fibrillation in mice.
Modest increase in aldosterone synthase (AS) expression makes blood pressure more sensitive to salt in mice, suggesting that genetically increased AS expression in humans may contribute to hypertension and cardiovascular complication with high-salt diets.
Title: Salt-sensitive blood pressure in mice with increased expression of aldosterone synthase.
Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1
Title: Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:492582

Cyp11b1 (e-PCR), detects polymorphism
- UniSTS:474702

Cyp11b2 (e-PCR), detects polymorphism
- UniSTS:546713

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables corticosterone 18-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables corticosterone 18-monooxygenase activity	ISO Inferred from Sequence Orthology more info
enables heme binding	ISO Inferred from Sequence Orthology more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	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	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aldosterone biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within aldosterone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to peptide hormone stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cortisol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within drinking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucocorticoid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within monoatomic ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of blood volume by renal aldosterone	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of systemic arterial blood pressure by circulatory renin-angiotensin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within steroid biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

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 P450C11; steroid 11-beta-hydroxylase, CYP11B2; steroid 18-hydroxylase; steroid-11-beta-hydroxylase

NP_034121.4

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.

mRNA and Protein(s)

NM_009991.4 → NP_034121.4 cytochrome P450 11B2, mitochondrial

Status: VALIDATED

Source sequence(s)

AC139671

Consensus CDS

CCDS27536.3

UniProtKB/Swiss-Prot

P15539, Q14AB5, Q64661

UniProtKB/TrEMBL

G3UWE4

Related

ENSMUSP00000158954.2, ENSMUST00000238900.2

Conserved Domains (1) summary

pfam00067
Location:42 → 496

p450; Cytochrome P450