CYP11B2 (cytochrome P450 family 11 subfamily B member 2)

2012-11-01  

Identity

HGNC
CYP11B2
LOCATION
8q24.3
LOCUSID
1585
ALIAS
ALDOS,CPN2,CYP11B,CYP11BL,CYPXIB2,P-450C18,P450C18,P450aldo
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD12065207
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD16765146
PA448561benazeprilChemicalClinicalAnnotationassociatedPD16765146
PA448765candesartanChemicalClinicalAnnotationassociatedPD12065207
PA452640imidaprilChemicalClinicalAnnotationassociatedPD16765146

References

Pubmed IDYearTitleCitations
358485932024Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency.0
358485932024Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency.0
360700922023Functional nodules in primary aldosteronism: identification of CXCR4 expression with (68)Ga-pentixafor PET/CT.4
373723642023Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan.3
360700922023Functional nodules in primary aldosteronism: identification of CXCR4 expression with (68)Ga-pentixafor PET/CT.4
373723642023Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan.3
342274262022Contribution of the ACE (rs1799752) and CYP11B2 (rs1799998) Gene Polymorphisms to Atrial Fibrillation in the Tunisian Population.2
344159912022Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.2
347433562022Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism.6
350124552022GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.0
351308892022Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case-control study.2
360361582022Changes of the CYP11B2 Expressing Zona Glomerulosa in Human Adrenals From Birth to 40 Years of Age.4
342274262022Contribution of the ACE (rs1799752) and CYP11B2 (rs1799998) Gene Polymorphisms to Atrial Fibrillation in the Tunisian Population.2
344159912022Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.2
347433562022Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism.6

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/case-report-explorer/css/template-card.css