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

    Gene ID: 13072, updated on 2-Nov-2024

    Summary

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    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. Predicted to be located in dendrite and mitochondrion. Predicted to be active in mitochondrial inner membrane. 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 human CYP11B1 (cytochrome P450 family 11 subfamily B member 1) and CYP11B2 (cytochrome P450 family 11 subfamily B member 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward adrenal adult (RPKM 151.7) See more
    Orthologs
    human all
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    Genomic context

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    See Cyp11b2 in Genome Data Viewer
    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_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_38997 Neighboring gene glycosylphosphatidylinositol anchored molecule like Neighboring gene glycosylphosphatidylinositol anchored molecule like 2 Neighboring gene cytochrome P450, family 11, subfamily b, polypeptide 1 Neighboring gene Cyp11b2 promoter Neighboring gene predicted gene, 41347 Neighboring gene STARR-seq mESC enhancer starr_38998 Neighboring gene lymphocyte antigen 6 family member M Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:74736563-74736853 Neighboring gene predicted gene 6610

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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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    Related articles in PubMed

    1. Aldosterone synthase knockout mouse as a model for sodium-induced endothelial sodium channel up-regulation in vascular endothelium. Jeggle P, et al. FASEB J, 2016 Jan. PMID 26324851
    2. Chronic activation of adrenal Gq signaling induces Cyp11b2 expression in the zona fasciculata and hyperaldosteronism. van Rooyen D, et al. Mol Cell Endocrinol, 2024 May 1. PMID 38341019
    3. Inhibition of aldosterone synthase (CYP11B2) by torasemide prevents atrial fibrosis and atrial fibrillation in mice. Adam O, et al. J Mol Cell Cardiol, 2015 Aug. PMID 26047574
    4. Homeostatic responses in the adrenal cortex to the absence of aldosterone in mice. Lee G, et al. Endocrinology, 2005 Jun. PMID 15731365
    5. Procollagen I-expressing renin cell precursors. Karger C, et al. Am J Physiol Renal Physiol, 2013 Aug 1. PMID 23761669

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (5)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC151285

    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 IEA
    Inferred from Electronic Annotation
    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 heme binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 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 
    Component Evidence Code Pubs
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    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

    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)

    1. 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, ENSMUST00000238900.3
      Conserved Domains (1) summary
      pfam00067
      Location:42 → 496
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      74722467..74728080 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15539.3 GenPept UniProtKB/Swiss-Prot:P15539

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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