Identity
HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
ALDOS,CPN2,CYP11B,CYP11BL,CYPXIB2,P-450C18,P450C18,P450aldo
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1585
MIM: 124080
HGNC: 2592
Ensembl: ENSG00000179142
Variants:
dbSNP: 1585
ClinVar: 1585
TCGA: ENSG00000179142
COSMIC: CYP11B2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000179142 | ENST00000323110 | P19099 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | 12065207 | |
| PA447288 | Essential hypertension | Disease | ClinicalAnnotation | associated | PD | 16765146 | |
| PA448561 | benazepril | Chemical | ClinicalAnnotation | associated | PD | 16765146 | |
| PA448765 | candesartan | Chemical | ClinicalAnnotation | associated | PD | 12065207 | |
| PA452640 | imidapril | Chemical | ClinicalAnnotation | associated | PD | 16765146 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35848593 | 2024 | Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency. | 0 |
| 35848593 | 2024 | Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency. | 0 |
| 36070092 | 2023 | Functional nodules in primary aldosteronism: identification of CXCR4 expression with (68)Ga-pentixafor PET/CT. | 4 |
| 37372364 | 2023 | Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan. | 3 |
| 36070092 | 2023 | Functional nodules in primary aldosteronism: identification of CXCR4 expression with (68)Ga-pentixafor PET/CT. | 4 |
| 37372364 | 2023 | Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan. | 3 |
| 34227426 | 2022 | Contribution of the ACE (rs1799752) and CYP11B2 (rs1799998) Gene Polymorphisms to Atrial Fibrillation in the Tunisian Population. | 2 |
| 34415991 | 2022 | Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency. | 2 |
| 34743356 | 2022 | Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism. | 6 |
| 35012455 | 2022 | GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism. | 0 |
| 35130889 | 2022 | Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case-control study. | 2 |
| 36036158 | 2022 | Changes of the CYP11B2 Expressing Zona Glomerulosa in Human Adrenals From Birth to 40 Years of Age. | 4 |
| 34227426 | 2022 | Contribution of the ACE (rs1799752) and CYP11B2 (rs1799998) Gene Polymorphisms to Atrial Fibrillation in the Tunisian Population. | 2 |
| 34415991 | 2022 | Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency. | 2 |
| 34743356 | 2022 | Expression 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/cyp11b2
