CYP11B2

Gene Information
 
Gene Symbol
CYP11B2
 
Aliases
ALDOS, CPN2, CYP11B, CYP11BL, CYPXIB2, P-450C18, P450C18, P450aldo
 
Entrez Gene ID
 
Gene Name
Cytochrome P450, family 11, subfamily B, polypeptide 2
 
Chromosomal Location
8q21-q22
 
HGNC ID
 
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)
 
GeneCards ID
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0002017 Biological process Regulation of blood volume by renal aldosterone IMP 14614232
GO:0003091 Biological process Renal water homeostasis IC 2256920
GO:0006700 Biological process C21-steroid hormone biosynthetic process IDA 2256920
GO:0008202 Biological process Steroid metabolic process EXP 15583024
GO:0032342 Biological process Aldosterone biosynthetic process IMP 19342457
Protein Information
 
Protein Name
Cytochrome P450 11B2, mitochondrial
 
Function
Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and 18-hydroxycorticosterone
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00067 p450 Cytochrome P450
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions
STRING MINT I2D
ENSP00000325822 P19099

Associated Diseases

Diseases References
Aldosteronism primary 2256920, 20339375, 12608705, 11422106
Atrial fibrillation 20193392, 18638595, 18001553, 19117407
Cancer (adenoma) 20200334, 15807884, 8480473, 10323392, 11572038, 16332935, 15248825
Cardiovascular diseases 18202594, 15573760, 12433910
Essential hypertension 15505931, 12444540, 12817181, 16126185
   
References
 
Primary:

[Association study between a polymorphism of aldosterone synthetase gene and the pathogenesis of polycystic ovary syndrome].

Zhao Shu-ping, Tang Xiu-ming, Shao Dong-hong, Dai Hong-ying, Dai Shu-zhen
Department of Obstetrics and Gynecology, Affiliated Hospital of Medical College of Qingdao University, Qingdao 266003, China.
Zhonghua Fu Chan Ke Za Zhi. 2003 Feb;38(2):94-7.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS 
(T-->C) of -344T polymorphism 
 
Direct 
92 women with PCOS and 92 controls 
The variants (T-->C) of -344T polymorphism site of CYP11B2 gene predisposes increased risk of PCOS. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
22090801, PMC3215522
Predisposition for borderline personality disorder with comorbid major depression is associated with that for polycystic ovary syndrome in female Japanese population. 
Clinical study 

 

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