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CYP11B2 Gene(Protein Coding)

Cytochrome P450 Family 11 Subfamily B Member 2

GCID:
GC08M142910
GIFtS:
55
Genes Participants
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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 56
  • 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 56
  • 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 Corticosterone Methyloxidase Type I Deficiency and Corticosterone Methyloxidase Type Ii Deficiency. Among its related pathways are superpathway of steroid hormone biosynthesis and Metabolism. Gene Ontology (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

Additional gene information for CYP11B2 Gene

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

Genomics for CYP11B2 Gene

Products:

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GeneHancer (GH) Regulatory Elements for CYP11B2 Gene

Promoters and enhancers for CYP11B2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08I142917 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.8 0.0 -10 0.1 CYP11B2 LOC105375794
GH08I142990 Enhancer 1 FANTOM5 ENCODE 11.1 -75.1 -75138 4.4 PKNOX1 KLF1 NFIB CEBPG ZFHX2 CTBP1 GATA3 EGR1 RCOR1 EGR2 C8orf31 LY6E-DT CYP11B2 ENSG00000253715 LY6D TSNARE1 LYPD2 CDC42P3 LOC105375794
GH08I142453 Enhancer 0.7 FANTOM5 dbSUPER 1.5 +464.2 464241 0.2 GLIS2 ZNF512B L3MBTL2 ZNF143 SPI1 TSNARE1 CYP11B2 ADGRB1 MROH4P
GH08I142912 Enhancer 0.4 dbSUPER 0.8 +4.8 4774 1.2 PKNOX1 PBX2 LYNX1 LY6E-DT C8orf31 CYP11B2 CYP11B1 GML
GH08I142913 Enhancer 0.4 dbSUPER 0.8 +2.9 2915 2.4 MAX MNT LYNX1 LY6E-DT GML CYP11B2 CYP11B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYP11B2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP11B2 gene promoter:

Genomic Locations for CYP11B2 Gene

Genomic Locations for CYP11B2 Gene
chr8:142,910,558-142,917,862
(GRCh38/hg38)
Size:
7,305 bases
Orientation:
Minus strand
chr8:143,991,975-143,999,259
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for CYP11B2 Gene

Proteins for CYP11B2 Gene

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  • 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

Protein Expression for CYP11B2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CYP11B2 Gene

P19099:
  • RQCLGRR
  • RGHKCGVFLLNGP
  • GVFLLNGPEW
  • AGSVDTT
  • LPLLRAALKETLRLYPVG
  • IPAGTLV

Post-translational modifications for CYP11B2 Gene

No Post-translational modifications

Other Protein References for CYP11B2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP11B2 Gene

Gene Families for CYP11B2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CYP11B2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CYP11B2 Gene

GenScript: Design optimal peptide antigens:

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

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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:0004497 monooxygenase activity IEA --
GO:0004507 steroid 11-beta-monooxygenase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS --
GO:0016491 oxidoreductase activity IEA --
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:

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP11B2 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

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,IC --
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with CYP11B2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0002017 regulation of blood volume by renal aldosterone IMP 14614232
GO:0003091 renal water homeostasis IC 2256920
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006700 C21-steroid hormone biosynthetic process IDA 2256920
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eplerenone Approved Pharma Antagonist, Enzyme, inhibitor Selective mineralocorticoid receptor antagonist 99
Etomidate Approved Pharma Enzyme, inhibitor General anesthetic with GABA modulatory and GABA-mimetic actions 68
Hydrocortisone Approved, Vet_approved Pharma Agonist, Enzyme, substrate 713
Metoclopramide Approved, Investigational Pharma Enzyme, inducer Dopamine receptor antagonist 126
Metyrapone Approved, Investigational Pharma Enzyme, inhibitor 11-beta hydroxylase inhibitor 13

(40) 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
17-Hydroxyprogesterone
  • 17-alpha-Hydroxyprogesterone
  • 17-Hydroxypregn-4-ene-3,20-dione
  • 17-Hydroxyprogesterone
  • 17-OH Progesterone
  • 17-OHP
 68-96-2

(1) ApexBio Compounds for CYP11B2 Gene

Compound Action Cas Number
Corticosterone 50-22-6
genes like me logo Genes that share compounds with CYP11B2: view

Drug Products

Transcripts for CYP11B2 Gene

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  1. CRISPR
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  3. Inhibitory RNA
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mRNA/cDNA for CYP11B2 Gene

(1) 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

Products:

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP11B2 Gene

mRNA expression in normal human tissues for CYP11B2 Gene
mRNA expression by GTEx for CYP11B2 GenemRNA expression by BioGPS 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



Protein tissue co-expression partners for CYP11B2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYP11B2 Gene:

CYP11B2

SOURCE GeneReport for Unigene cluster for CYP11B2 Gene:

Hs.632054

Evidence on tissue expression from TISSUES for CYP11B2 Gene

  • Adrenal gland(4.8)
  • Blood(4.5)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP11B2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • stomach
Pelvis:
  • ureter
  • urethra
  • urinary bladder
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CYP11B2: view

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 34
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia CYP11B2 33
  • 79.85 (n)
-- 34
  • 73 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia CYP11B1 33
  • 79.55 (n)
-- 34
  • 73 (a)
 ManyToMany
-- 34
  • 70 (a)
 ManyToMany
mouse
(Mus musculus)
 Mammalia Cyp11b1 33 16 34
  • 73.48 (n)
Cyp11b2 34
  • 69 (a)
 ManyToMany
rat
(Rattus norvegicus)
 Mammalia LOC100910462 33
  • 72.56 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 53 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 49 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 50 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii cyp11c1 34
  • 33 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Cyp12c1 35
  • 31 (a)
Cyp12a4 35
  • 28 (a)
dib 34
  • 24 (a)
 ManyToMany
shd 34
  • 22 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea ccp-44 35
  • 27 (a)
cyp-44A1 34
  • 24 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 21 (a)
 OneToMany
Species where no ortholog for CYP11B2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs104894072 pathogenic, Corticosterone methyloxidase type 1 deficiency, Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] 142,915,047(-) T/G coding_sequence_variant, missense_variant
rs113284476 likely-benign, Corticosterone methyloxidase type 1 deficiency, Corticosterone methyloxidase type 2 deficiency, Hyperaldosteronism, familial, type I 142,914,898(-) T/C coding_sequence_variant, synonymous_variant
rs121912977 pathogenic, Corticosterone methyloxidase type 1 deficiency 142,914,741(-) C/A coding_sequence_variant, stop_gained
rs121912978 pathogenic, Corticosterone methyloxidase type 2 deficiency, Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] 142,915,087(-) G/A coding_sequence_variant, missense_variant
rs121912979 pathogenic, Corticosterone methyloxidase type 2 deficiency 142,914,404(-) G/A coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv2661137 CNV deletion 23128226
esv2673440 CNV deletion 23128226
esv2737938 CNV deletion 23290073
esv3544372 CNV deletion 23714750
esv991235 CNV deletion 20482838
nsv436586 CNV deletion 17901297
nsv470246 CNV loss 18288195
nsv473899 CNV novel sequence insertion 20440878
nsv480406 CNV novel sequence insertion 20440878
nsv950005 CNV deletion 24416366

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)

Additional Variant Information for CYP11B2 Gene

Human Gene Mutation Database (HGMD)
CYP11B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP11B2

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

Disorders for CYP11B2 Gene

MalaCards: The human disease database

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

- 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.
  • Hyperaldosteronism, familial, 1 (HALD1) [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.

Additional Disease Information for CYP11B2

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

No data available for Genatlas for CYP11B2 Gene

Publications for CYP11B2 Gene

  1. Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism. (PMID: 20339375) Zhang GX … Zhang X (Hypertension research : official journal of the Japanese Society of Hypertension 2010) 3 22 44 58
  2. High aldosterone-to-renin variants of CYP11B2 and pregnancy outcome. (PMID: 19151144) Escher G … Mohaupt MG (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009) 3 22 44 58
  3. [Impact of gene-environment interaction between the C (-344) T polymorphism of CYP11B2 and drinking index on the risk of hypertension under multifactor dimensionality reduction model in Chinese Mongolian population]. (PMID: 20193236) Pan XQ … Tong WJ (Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi 2009) 3 22 44 58
  4. [Associations of the genetic polymorphisms in CYP11B2 gene with nonfamilial structural atrial fibrillation]. (PMID: 20193392) Cao FF … Jin L (Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi 2009) 3 22 44 58
  5. Effect of variation in CYP11B1 and CYP11B2 on corticosteroid phenotype and hypothalamic-pituitary-adrenal axis activity in hypertensive and normotensive subjects. (PMID: 17980006) Freel EM … Connell JM (Clinical endocrinology 2008) 3 22 44 58

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