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Aliases for CYP11B2 Gene

Aliases for CYP11B2 Gene

  • Cytochrome P450, Family 11, Subfamily B, Polypeptide 2 2 3
  • Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 2 2 3
  • Aldosterone-Synthesizing Enzyme 3 4
  • Steroid 11-Beta-Monooxygenase 2 3
  • Aldosterone Synthase 3 4
  • Cytochrome P-450Aldo 3 4
  • Cytochrome P-450C18 3 4
  • EC 1.14.15.4 4 63
  • CYPXIB2 3 4
  • ALDOS 3 4
  • Mitochondrial Cytochrome P450, Family 11, Subfamily B, Polypeptide 2 3
  • Steroid 18-Hydroxylase, Aldosterone Synthase, P450C18, P450aldo 3
  • Cytochrome P450 11B2, Mitochondrial 3
  • Steroid 11-Beta/18-Hydroxylase 3
  • Steroid 18-Hydroxylase 4
  • EC 1.14.15.5 4
  • EC 1.14.15 63
  • P-450C18 3
  • P450aldo 3
  • CYP11BL 3
  • P450C18 3
  • CYP11B 3
  • CPN2 3

External Ids for CYP11B2 Gene

Previous HGNC Symbols for CYP11B2 Gene

  • CYP11B

Previous GeneCards Identifiers for CYP11B2 Gene

  • GC08U990015
  • GC08M144225
  • GC08M143796
  • GC08M144054
  • GC08M143988
  • GC08M139244

Summaries for CYP11B2 Gene

Entrez Gene Summary for CYP11B2 Gene

  • 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]

GeneCards Summary for CYP11B2 Gene

CYP11B2 (Cytochrome P450, Family 11, Subfamily B, Polypeptide 2) is a Protein Coding gene. Diseases associated with CYP11B2 include hypoaldosteronism, congenital, due to cmo ii deficiency and hypoaldosteronism, congenital, due to cmo i deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP11A1.

UniProtKB/Swiss-Prot for CYP11B2 Gene

  • Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and 18-hydroxycorticosterone.

Gene Wiki entry for CYP11B2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP11B2 Gene

Genomics for CYP11B2 Gene

Regulatory Elements for CYP11B2 Gene

Genomic Location for CYP11B2 Gene

Start:
142,910,559 bp from pter
End:
142,917,843 bp from pter
Size:
7,285 bases
Orientation:
Minus strand

Genomic View for CYP11B2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP11B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP11B2 Gene

Proteins for CYP11B2 Gene

  • Protein details for CYP11B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19099-C11B2_HUMAN
    Recommended name:
    Cytochrome P450 11B2, mitochondrial
    Protein Accession:
    P19099
    Secondary Accessions:
    • B0ZBE4
    • Q16726

    Protein attributes for CYP11B2 Gene

    Size:
    503 amino acids
    Molecular mass:
    57560 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP11B2 Gene

neXtProt entry for CYP11B2 Gene

Proteomics data for CYP11B2 Gene at MOPED

Selected DME Specific Peptides for CYP11B2 Gene

Post-translational modifications for CYP11B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP11B2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CYP11B2 Gene

Gene Families for CYP11B2 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP11B2 Gene

Suggested Antigen Peptide Sequences for CYP11B2 Gene

Graphical View of Domain Structure for InterPro Entry

P19099

UniProtKB/Swiss-Prot:

C11B2_HUMAN :
  • P19099
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP11B2: view

Function for CYP11B2 Gene

Molecular function for CYP11B2 Gene

GENATLAS Biochemistry: cytochrome p450,subfamily XIB,multifunctional enzyme with 18 hydroxylase,18 hydroxysteroid dehydrogenase and accessorily 11 beta-hydroxylase activity,mitochondrial,involved in mineralocorticoid biosynthesis,stimulated by angiotensin II and potassium,expressed in zona glomerulosa of the adrenal cortex
UniProtKB/Swiss-Prot CatalyticActivity: A steroid + 2 reduced adrenodoxin + O(2) + 2 H(+) = an 11-beta- hydroxysteroid + 2 oxidized adrenodoxin + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity: Corticosterone + 2 reduced adrenodoxin + O(2) + 2 H(+) = 18-hydroxycorticosterone + 2 oxidized adrenodoxin + H(2)O.
UniProtKB/Swiss-Prot Function: Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and 18-hydroxycorticosterone.

Enzyme Numbers (IUBMB) for CYP11B2 Gene

Gene Ontology (GO) - Molecular Function for CYP11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004507 steroid 11-beta-monooxygenase activity IDA 1741400
GO:0005506 iron ion binding IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0020037 heme binding IDA 23322723
GO:0047783 corticosterone 18-monooxygenase activity IEA --
genes like me logo Genes that share ontologies with CYP11B2: view
genes like me logo Genes that share phenotypes with CYP11B2: view

Animal Models for CYP11B2 Gene

MGI Knock Outs for CYP11B2:

Animal Model Products

CRISPR Products

miRNA for CYP11B2 Gene

miRTarBase miRNAs that target CYP11B2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP11B2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for CYP11B2 Gene

Localization for CYP11B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP11B2 Gene

Mitochondrion membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP11B2 Gene COMPARTMENTS Subcellular localization image for CYP11B2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 2
nucleus 2

Gene Ontology (GO) - Cellular Components for CYP11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 1741400
GO:0005743 mitochondrial inner membrane TAS --
genes like me logo Genes that share ontologies with CYP11B2: view

Pathways for CYP11B2 Gene

genes like me logo Genes that share pathways with CYP11B2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CYP11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002017 regulation of blood volume by renal aldosterone IMP 14614232
GO:0003091 renal water homeostasis IC 2256920
GO:0006700 C21-steroid hormone biosynthetic process IDA 2256920
GO:0006705 mineralocorticoid biosynthetic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
genes like me logo Genes that share ontologies with CYP11B2: view

Compounds for CYP11B2 Gene

(22) HMDB Compounds for CYP11B2 Gene

Compound Synonyms Cas Number PubMed IDs
11b,17a,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypregnenolone
Not Available
11beta-Hydroxyprogesterone
Not Available
11b-Hydroxyandrost-4-ene-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
382-44-5
11b-Hydroxyprogesterone
  • 11b-Hydroxyprogesterone
600-57-7
17a,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone
1167-48-2

(7) Drugbank Compounds for CYP11B2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Aldosterone
  • (+)-aldosterone
52-39-1 enzyme substrate
Eplerenone
107724-20-9 enzyme inhibitor
Etomidate
33125-97-2 enzyme inhibitor
Hydrocortisone
  • 11beta-Hydroxycortisone
50-23-7 enzyme substrate
Metoclopramide
  • Metaclopramide
364-62-5 enzyme inducer

(63) Novoseek inferred chemical compound relationships for CYP11B2 Gene

Compound -log(P) Hits PubMed IDs
18-hydroxycortisol 91.6 4
18-hydroxycorticosterone 91.2 10
18-oxocortisol 90.9 4
doca 89.6 23
tetrahydroaldosterone 88.1 1

(3) PharmGKB related drug/compound annotations for CYP11B2 Gene

Drug/compound Annotation
benazepril CA
candesartan CA
imidapril CA
genes like me logo Genes that share compounds with CYP11B2: view

Transcripts for CYP11B2 Gene

mRNA/cDNA for CYP11B2 Gene

(10) Selected AceView cDNA sequences:
(4) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP11B2 Gene

Cytochrome P450, family 11, subfamily B, polypeptide 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP11B2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CYP11B2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP11B2 Gene

No ASD Table

Relevant External Links for CYP11B2 Gene

GeneLoc Exon Structure for
CYP11B2
ECgene alternative splicing isoforms for
CYP11B2

Expression for CYP11B2 Gene

mRNA expression in normal human tissues for CYP11B2 Gene

mRNA differential expression in normal tissues according to GTEx for CYP11B2 Gene

This gene is overexpressed in Adrenal Gland (52.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CYP11B2 Gene

SOURCE GeneReport for Unigene cluster for CYP11B2 Gene Hs.632054

genes like me logo Genes that share expressions with CYP11B2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CYP11B2 Gene

Orthologs for CYP11B2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP11B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP11B2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 73 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
CYP11B1 35
  • 79.55 (n)
  • 72.71 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 73 (a)
OneToMany
CYP11B2 35
  • 79.85 (n)
  • 73.36 (a)
mouse
(Mus musculus)
Mammalia Cyp11b1 35
  • 73.48 (n)
  • 64.93 (a)
Cyp11b1 36
  • 65 (a)
ManyToMany
Cyp11b2 16
Cyp11b2 36
  • 69 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 53 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 49 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100910462 35
  • 72.56 (n)
  • 63.45 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 50 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii cyp11c1 36
  • 33 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dib 36
  • 24 (a)
ManyToMany
shd 36
  • 22 (a)
ManyToMany
Cyp12c1 37
  • 31 (a)
Cyp12a4 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea cyp-44A1 36
  • 24 (a)
OneToMany
ccp-44 37
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
OneToMany
Species with no ortholog for CYP11B2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CYP11B2 Gene

ENSEMBL:
Gene Tree for CYP11B2 (if available)
TreeFam:
Gene Tree for CYP11B2 (if available)

Paralogs for CYP11B2 Gene

Paralogs for CYP11B2 Gene

Selected SIMAP similar genes for CYP11B2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CYP11B2: view

Variants for CYP11B2 Gene

Sequence variations from dbSNP and Humsavar for CYP11B2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs3097 -- 142,911,899(-) CCCAC(A/G)TGCAC utr-variant-3-prime
rs4536 -- 142,914,345(-) GTGGC(A/G)GAGCT synonymous-codon, reference
rs4537 - 142,914,376(-) CTTCA(A/G)CCGCC reference, missense
rs4538 -- 142,913,286(-) CCTTG(A/C)GGTGG synonymous-codon, reference
rs4539 - 142,915,123(-) CCTGA(A/G)GAAGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYP11B2 Gene

Variant ID Type Subtype PubMed ID
esv2661137 CNV Deletion 23128226
nsv470246 CNV Loss 18288195
esv2737938 CNV Deletion 23290073
esv991235 CNV Deletion 20482838
nsv436586 CNV Deletion 17901297
nsv891648 CNV Loss 21882294
esv2673440 CNV Deletion 23128226

Relevant External Links for CYP11B2 Gene

HapMap Linkage Disequilibrium report
CYP11B2
Human Gene Mutation Database (HGMD)
CYP11B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP11B2 Gene

Disorders for CYP11B2 Gene

(2) OMIM Diseases for CYP11B2 Gene (124080)

UniProtKB/Swiss-Prot

C11B2_HUMAN
  • Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) [MIM:203400]: Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal. {ECO:0000269 PubMed:11238478, ECO:0000269 PubMed:9177280}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]: Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18-hydroxycorticosterone in serum. {ECO:0000269 PubMed:12788848, ECO:0000269 PubMed:1346492, ECO:0000269 PubMed:1594605, ECO:0000269 PubMed:9625333, ECO:0000269 PubMed:9814506}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.

(42) Novoseek inferred disease relationships for CYP11B2 Gene

Disease -log(P) Hits PubMed IDs
glucocorticoid-remediable aldosteronism 93.7 11
cmo i deficiency 92.8 3
hyperaldosteronism 90 17
hypoaldosteronism 88.5 14
aldosteronism primary 88 20

Relevant External Links for CYP11B2

Genetic Association Database (GAD)
CYP11B2
Human Genome Epidemiology (HuGE) Navigator
CYP11B2
genes like me logo Genes that share disorders with CYP11B2: view

Publications for CYP11B2 Gene

  1. Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. (PMID: 1303253) Lifton R.P. … Laidlaw J.C. (Nat. Genet. 1992) 2 3 23
  2. Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. (PMID: 1346492) Mitsuuchi Y. … Shizuta Y. (Biochem. Biophys. Res. Commun. 1992) 3 4 23
  3. Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. (PMID: 1594605) Pascoe L. … White P.C. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  4. Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism. (PMID: 2256920) Kawamoto T. … Shizuta Y. (Biochem. Biophys. Res. Commun. 1990) 3 4 23
  5. Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450(C18) gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. (PMID: 8439335) Mitsuuchi Y. … Shizuta Y. (Biochem. Biophys. Res. Commun. 1993) 3 4 23

Products for CYP11B2 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate CYP11B2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for CYP11B2
    • Block miRNA regulation of CYP11B2 using miScript Target Protectors

    Sources for CYP11B2 Gene

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