CYP11B2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CYP11B2 |
| Official Name | cytochrome P450 family 11 subfamily B member 2 [Source:HGNC Symbol;Acc:HGNC:2592] |
| Ensembl ID | ENSG00000179142 |
| Bio databases IDs | |
| Aliases | cytochrome P450 family 11 subfamily B member 2, steroid 11-beta-monooxygenase |
| Synonyms | ALDOS, Aldosterone synthase, AS, CPN2, CYP11B, CYP11BL, CYPXIB2, cytochrome P450 family 11 subfamily B member 2, cytochrome P450, family 11, subfamily b, polypeptide 2, P450aldo, P450c11AS, P-450C18 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CYP11B2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytochrome P450 (CYP) superfamily
- steroid 11beta-monooxygenase
- Cytochrome P450
- corticosterone 18-monooxygenase
- enzyme
- steroid hydroxylase
- heme binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- corticosterone methyl oxidase type II deficiency
- cardiovascular disorder
- non-insulin-dependent diabetes mellitus
- Cushing syndrome
- chronic kidney disease
- corticosterone methyl oxidase type I deficiency
- cardiac fibrosis
- adrenal cortex adenoma
- adenoma formation
role in cell
- expression in
- stiffness
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular compartment
- intracellular space
- Mitochondria
- mitochondrial inner membrane
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYP11B2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- renal water homeostasis
- potassium ion homeostasis
- cortisol biosynthetic process
- cortisol metabolic process
- sodium ion homeostasis
- cholesterol metabolic process
- C21-steroid hormone biosynthetic process
- glucocorticoid biosynthetic process
- regulation of blood volume by renal aldosterone
- mineralocorticoid biosynthetic process
- cellular response to peptide hormone stimulus
- aldosterone biosynthetic process
- cellular response to hormone stimulus
- sterol metabolic process
- cellular response to potassium ion
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- iron ion binding
- steroid hydroxylase activity
- corticosterone 18-monooxygenase activity
- steroid 11-beta-monooxygenase activity
- heme binding