U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 1585, updated on 17-Jun-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYP11B2 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (142910559..142917843, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144053900..144061172, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (143991975..143999259, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger HIT-type containing 1 pseudogene 1 Neighboring gene CYP11B1 recombination region Neighboring gene CYP11B1 promoter Neighboring gene cytochrome P450 family 11 subfamily B member 1 Neighboring gene CYP11B2 recombination region Neighboring gene CYP11B2 promoter Neighboring gene uncharacterized LOC105375794 Neighboring gene Sharpr-MPRA regulatory region 5092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144033761-144034332 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:144063636-144063766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144070153-144070654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144073720-144074227 Neighboring gene LY6E divergent transcript Neighboring gene CDC42 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_008374.1 RefSeqGene

      Range
      5001..12285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000489.3

      Status: REVIEWED

      Source sequence(s)
      AC073385, X54741
      Consensus CDS
      CCDS6393.1
      UniProtKB/Swiss-Prot
      B0ZBE4, P19099, Q16726
      UniProtKB/TrEMBL
      Q8TDD0
      Related
      ENSP00000325822.2, ENST00000323110.2
      Conserved Domains (1) summary
      pfam00067
      Location:42454
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      142910559..142917843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      144053900..144061172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)