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

Gene ID: 1585, updated on 8-Dec-2018

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
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

Genomic context

See CYP11B2 in Genome Data Viewer
Location:
8q24.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (142910559..142917843, complement)
105 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 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 LY6E divergent transcript Neighboring gene cell division cycle 42 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
corticosterone 18-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme binding IC
Inferred by Curator
more info
PubMed 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
steroid 11-beta-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid 11-beta-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
steroid 11-beta-monooxygenase activity TAS
Traceable Author Statement
more info
 
steroid hydroxylase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
C21-steroid hormone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
C21-steroid hormone biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
aldosterone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
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 peptide hormone stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to potassium ion IEP
Inferred from Expression Pattern
more info
PubMed 
cholesterol metabolic process IBA
Inferred from Biological aspect of Ancestor
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 
cortisol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucocorticoid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mineralocorticoid biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
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 
sodium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
sterol metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
cytochrome P450 11B2, mitochondrial
Names
aldosterone synthase
aldosterone-synthesizing enzyme
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-monooxygenase
steroid 11-beta/18-hydroxylase
steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo
NP_000489.3

NCBI Reference Sequences (RefSeq)

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
    P19099
    Related
    ENSP00000325822.2, ENST00000323110.2
    Conserved Domains (1) summary
    pfam00067
    Location:42454
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

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