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Aliases for CYP11B2 Gene

Aliases for CYP11B2 Gene

  • Cytochrome P450 Family 11 Subfamily B Member 2 2 3 5
  • Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 2 2 3
  • Cytochrome P450, Family 11, Subfamily B, 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
  • 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 Member 2) is a Protein Coding gene. Diseases associated with CYP11B2 include hypoaldosteronism, congenital, due to cmo i deficiency and hypoaldosteronism, congenital, due to cmo ii deficiency. Among its related pathways are Metabolism and cytochrome P450. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP11B1.

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

Chromosome:
8
Start:
142,910,558 bp from pter
End:
142,917,862 bp from pter
Size:
7,305 bases
Orientation:
Minus strand

Genomic View for CYP11B2 Gene

Genes around CYP11B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP11B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
REFSEQ proteins:

Antibody Products

Domains & Families for CYP11B2 Gene

Gene Families for CYP11B2 Gene

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 :
  • Belongs to the cytochrome P450 family.
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,TAS --
genes like me logo Genes that share ontologies with CYP11B2: view
genes like me logo Genes that share phenotypes with CYP11B2: view

Human Phenotype Ontology for CYP11B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP11B2 Gene

MGI Knock Outs for CYP11B2:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets 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
nucleus 2
endoplasmic reticulum 1
extracellular 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for CYP11B2 Gene

Pathways & Interactions for CYP11B2 Gene

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

Gene Ontology (GO) - Biological Process for CYP11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis IC 2256920
GO:0006705 mineralocorticoid biosynthetic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008203 cholesterol metabolic process IBA --
GO:0016125 sterol metabolic process TAS --
genes like me logo Genes that share ontologies with CYP11B2: view

No data available for SIGNOR curated interactions for CYP11B2 Gene

Drugs & Compounds for CYP11B2 Gene

(40) Drugs for CYP11B2 Gene - From: Novoseek, DrugBank, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eplerenone Approved Pharma Antagonist, Enzyme, inhibitor Selective mineralocorticoid receptor antagonist 89
Etomidate Approved Pharma Enzyme, inhibitor General anesthetic with GABA modulatory and GABA-mimetic actions 57
Hydrocortisone Approved Pharma Agonist, Enzyme, substrate 583
Metoclopramide Approved, Investigational Pharma Enzyme, inducer Dopamine receptor antagonist 102
Metyrapone Approved Pharma Enzyme, inhibitor 11-beta hydroxylase inhibitor 11

(43) Additional Compounds for CYP11B2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
18-Hydroxycorticosterone
  • 11b,18,21-Trihydroxy-pregn-4-ene-3,20-dione
  • 18-Hydroxycorticosterone
561-65-9
11b,17a,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypregnenolone
11b-Hydroxyandrost-4-ene-3,17-dione
  • 11beta-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
382-44-5
11b-Hydroxyprogesterone
  • (11beta)-11-hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxyprogesterone
  • 11b-Hydroxyprogesterone
  • 11beta-hydroxypregn-4-ene-3,20-dione
600-57-7
17a,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone
1167-48-2
genes like me logo Genes that share compounds with CYP11B2: view

Transcripts for CYP11B2 Gene

mRNA/cDNA for CYP11B2 Gene

(4) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(10) Selected AceView cDNA 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:

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 (x52.5).

Protein differential expression in normal tissues from HIPED for CYP11B2 Gene

This gene is overexpressed in Synovial fluid (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CYP11B2: view

Protein tissue co-expression partners for CYP11B2 Gene

Primer Products

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 CYP11B2 35
  • 79.85 (n)
  • 73.36 (a)
-- 36
  • 73 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cyp11b1 36
  • 65 (a)
ManyToMany
Cyp11b2 36
  • 69 (a)
ManyToMany
Cyp11b1 16
Cyp11b1 35
  • 73.48 (n)
  • 64.93 (a)
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 Cyp12a4 37
  • 28 (a)
Cyp12c1 37
  • 31 (a)
dib 36
  • 24 (a)
ManyToMany
shd 36
  • 22 (a)
ManyToMany
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

(5) 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
VAR_001266 -
VAR_001267 Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency)
VAR_001268 Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency)
VAR_001269 Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency)
rs6438 - 142,917,756(-) GAGCC(A/G)CTCGG 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

Variation tolerance for CYP11B2 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.06% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(26) MalaCards diseases for CYP11B2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypoaldosteronism, congenital, due to cmo i deficiency
  • 18 hydroxylase deficiency
hypoaldosteronism, congenital, due to cmo ii deficiency
  • aldosterone synthase deficiency
aldosteronism, glucocorticoid-remediable
  • glucocorticoid-remediable aldosteronism
liddle syndrome
  • liddle's syndrome
hyperaldosteronism
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CYP11B2

Genetic Association Database (GAD)
CYP11B2
Human Genome Epidemiology (HuGE) Navigator
CYP11B2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP11B2
genes like me logo Genes that share disorders with CYP11B2: view

No data available for Genatlas for CYP11B2 Gene

Publications for CYP11B2 Gene

  1. Haplotypes of aldosterone synthase (CYP11B2) gene in the general population of Japan: the Ohasama study. (PMID: 11728005) Matsubara M. … Imai Y. (Clin. Exp. Hypertens. 2001) 3 23 48 67
  2. Construction of 3D models of the CYP11B family as a tool to predict ligand binding characteristics. (PMID: 17646925) Roumen L. … Hermans J.J. (J. Comput. Aided Mol. Des. 2007) 23 25 26
  3. Regulation of aldosterone synthase by activator transcription factor/cAMP response element-binding protein family members. (PMID: 20097716) Nogueira E.F. … Rainey W.E. (Endocrinology 2010) 3 23
  4. Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism. (PMID: 20339375) Zhang G.X. … Zhang X. (Hypertens. Res. 2010) 3 23
  5. SuperCYP: a comprehensive database on Cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions. (PMID: 19934256) Preissner S. … Preissner R. (Nucleic Acids Res. 2010) 25 26

Products for CYP11B2 Gene

Sources for CYP11B2 Gene

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