CYP11B2 (cytochrome P450 family 11 subfamily B member 2)

2012-11-01  

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
ALDOS,CPN2,CYP11B,CYP11BL,CYPXIB2,P-450C18,P450C18,P450aldo
FUSION GENES

Other Information

Locus ID:

NCBI: 1585
MIM: 124080
HGNC: 2592
Ensembl: ENSG00000179142

Variants:

dbSNP: 1585
ClinVar: 1585
TCGA: ENSG00000179142
COSMIC: CYP11B2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179142ENST00000323110P19099

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosteroneKEGGhsa_M00108
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisoneKEGGhsa_M00109
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosteroneKEGGM00108
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisoneKEGGM00109
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Glucocorticoid biosynthesisREACTOMER-HSA-194002
Mineralocorticoid biosynthesisREACTOMER-HSA-193993
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD12065207
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD16765146
PA448561benazeprilChemicalClinicalAnnotationassociatedPD16765146
PA448765candesartanChemicalClinicalAnnotationassociatedPD12065207
PA452640imidaprilChemicalClinicalAnnotationassociatedPD16765146

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
166388642006Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer.39
151026772004Predictive models for breast cancer susceptibility from multiple single nucleotide polymorphisms.35
117115242001Molecular basis of salt sensitivity in human hypertension. Evaluation of renin-angiotensin-aldosterone system gene polymorphisms.34
186361242008Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.32
124464682002Genotyping of essential hypertension single-nucleotide polymorphisms by a homogeneous PCR method with universal energy transfer primers.31
121935812002Calmodulin-dependent kinase I regulates adrenal cell expression of aldosterone synthase.30
115188422001Effects of three candidate genes on prevalence and incidence of hypertension in a Caucasian population.28
166720532006Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms.27
199566352009Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies.27

Citation

Dessen P

CYP11B2 (cytochrome P450 family 11 subfamily B member 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52987/cyp11b2