CYP11B2 - cytochrome P450 family 11 subfamily B member 2 Gene

Also Known as CPN2; ALDOS; CYP11B; CYP11BL; CYPXIB2; P450C18; P-450C18; P450aldo

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1585

About CYP11B2

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:142,910,559-142,917,843 (from NCBI)

This gene has 1 transcript (splice variant), 31 orthologues, 2 paralogues and is associated with 4 phenotypes. Restricted expression toward adrenal (RPKM 110.5).

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, Jul 2008]

CYP11B2 Products (1)

mRNA	Protein	Name
NM_000498.3	NP_000489.3	cytochrome P450 11B2, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables heme binding	IDA IDA: Inferred from direct assay	23322723	GOA
enables steroid 11-beta-monooxygenase activity	IDA IDA: Inferred from direct assay	1741400	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in C21-steroid hormone biosynthetic process	IDA IDA: Inferred from direct assay	2256920	GOA
involved in aldosterone biosynthetic process	IDA IDA: Inferred from direct assay	1741400	GOA
involved in aldosterone biosynthetic process	IMP IMP: Inferred from mutant phenotype	19342457	GOA
involved in cellular response to hormone stimulus	IEP IEP: Inferred from expression pattern	19342457	GOA
involved in cellular response to potassium ion	IEP IEP: Inferred from expression pattern	19342457	GOA
NOT involved in cortisol biosynthetic process	IMP IMP: Inferred from mutant phenotype	9703385	GOA
involved in cortisol biosynthetic process	IMP IMP: Inferred from mutant phenotype	19342457	GOA
involved in potassium ion homeostasis	IMP IMP: Inferred from mutant phenotype	9838244	GOA
involved in regulation of blood volume by renal aldosterone	IMP IMP: Inferred from mutant phenotype	14614232	GOA
involved in sodium ion homeostasis	IMP IMP: Inferred from mutant phenotype	9838244	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	1741400	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP11B2 Protein Structure

p450

0
100
200
300
400
503 a.a.

Protein Preferred Names	Protein Names
cytochrome P450 11B2, mitochondrial	aldosterone synthase

Recombinant CYP11B2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72163	CYP11B2 Protein, Human (His-SUMO)	P19099 (G25-N503)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Corticosterone Methyloxidase Type Ii Deficiency	Hypoaldosteronism, Congenital, Due To Cmo Ii Deficiency Corticosterone Methyloxidase Type 2 Deficiency Corticosterone Methyl Oxidase Type Ii Deficiency Cmo Ii Deficiency Aldosterone Deficiency Ii Hyperreninemic Hypoaldosteronism, Familial, 1 Fhha1b Aldosterone Deficiency Due To Deficiency Of Steroid 18-Oxidase Steroid 18-Oxidase Deficiency 18-Oxidase Deficiency Corticosterone Methyloxidase 2 Deficiency CMO-2 DEFICIENCY Corticosterone Methyl Oxidase Type I Deficiency
Corticosterone Methyloxidase Type I Deficiency	Cmo I Deficiency Aldosterone Deficiency I Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase 18-Hydroxylase Deficiency Hypoaldosteronism, Congenital, Due To Cmo I Deficiency Corticosterone Methyloxidase Deficiency 1 Corticosterone Methyloxidase Type 1 Deficiency Hyperreninemic Hypoaldosteronism, Familial, 1 Fhha1a Steroid 18-Hydroxylase Deficiency Aldosterone Synthase Deficiency 18 Hydroxylase Deficiency 18 Alpha Hydroxylase Deficiency Aldosterone Deficiency 1 Aldosterone Deficiency Due To Defect In 18 Hydroxylase Cmo 1 Deficiency Corticosterone Methyloxidase 1 Deficiency CMO-1 DEFICIENCY Aldosterone Deficiency Due To Defect In 18-Hydroxylase Corticosterone Methyl Oxidase Type I Deficiency Corticosterone Methyl Oxidase Type Ii Deficiency
Corticosterone Methyloxidase Deficiency	Corticosterone 18-Monooxygenase Deficiency 18-Hydroxylase Deficiency 18-Oxidase Deficiency Aldosterone Deficiency Aldosterone Deficiency Due To Deficiency Of Steroid 18-Hydroxylase Aldosterone Deficiency Due To Deficiency Of Steroid 18-Oxidase Aldosterone Synthase Deficiency Cmo Deficiency Congenital Hypoaldosteronism Corticosterone Methyl Oxidase Deficiency Familial Hyperreninemic Hypoaldosteronism Steroid 18-Hydroxylase Deficiency Steroid 18-Oxidase Deficiency Visser-Cost Syndrome Corticosterone Methyl Oxidase Type I Deficiency Corticosterone Methyl Oxidase Type Ii Deficiency Hypoaldosteronism
Early-Onset Familial Hypoaldosteronism	Early-Onset Familial Hyperreninemic Hypoaldosteronism Severe Aldosterone Synthase Deficiency
Hyperaldosteronism, Familial, Type I	Glucocorticoid-Remediable Aldosteronism Gra Familial Hyperaldosteronism Type 1 Hyperaldosteronism, Familial Type 1 HALD1 Fh I Glucocorticoid-Suppressible Hyperaldosteronism Gsh Acth-Dependent Hyperaldosteronism Syndrome Aldosteronism, Glucocorticoid-Remediable Dexamethasone Sensitive Hypertension Glucocorticoid Sensitive Hypertension Familial Hyperaldosteronism Type I Fh1 Aldosteronism, Sensitive To Dexamethasone Dexamethasone-Sensitive Hypertension Fh-I Glucocorticoid-Sensitive Hypertension Hyperaldosteronism, Familial, 1 Aldosteronism Sensitive To Dexamethasone Familial Hyperaldosteronism 1 Fh Type 1 Familial Aldosteronism Type I
Hypoaldosteronism
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Adrenal Adenoma	Adenoma Of The Adrenal Gland Adrenal Incidentaloma Adrenal Cortical Adenoma Adrenocortical Adenoma
Adrenal Carcinoma	Adrenal Cancer Adrenal Gland Cancer Malignant Neoplasm Of Adrenal Gland Adrenal Gland Neoplasms Carcinoma Of The Adrenal Gland Adrenal Neoplasm Malignant Adrenal Tumor Neoplasm Of Adrenal Gland Tumor Of The Adrenal Gland Adrenal Gland Neoplasm Adrenocortical Carcinoma Adrenal Gland Malignancy Suprarenal Cancer Malignant Neoplasm Of Suprarenal Gland Malignant Neoplasm Of Adrenal Gland, Unspecified Malignant Tumour Of Adrenal Gland Suprarenal Gland Cancer Primary Malignant Neoplasm Of Adrenal Gland
Hypertensive Heart Disease
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Liddle Syndrome 1	Liddle Syndrome Pseudoaldosteronism Liddle'S Syndrome LIDLS1 Lidls Pseudohyperaldosteronism Pseudoprimary Hyperaldosteronism Pseudohyperaldosteronism Type 1 Liddles Syndrome
Adrenal Gland Disease	Adrenal Gland Diseases Adrenal Gland Disorders
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Lipoid Congenital Adrenal Hyperplasia	Congenital Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency Congenital Lipoid Adrenal Hyperplasia Lipoid Cah Lipoid Adrenal Hyperplasia Adrenal Hyperplasia 1 Cah Clah LCAH Adrenal Hyperplasia I Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism Congenital Adrenal Hyperplasia Lipoid Adrenal Hyperplasia, Congenital Congenital Adrenal Hyperplasia, Lipoid AH1 Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism Adrenal Hyperplasia Congenital Hyperplasia, Adrenal, Lipoid, Congenital Congenital Adrenogenital Disorders Associated With Enzyme Deficiency Congenital Adrenal Cortical Hyperplasia Congenital Adrenal Gland Hyperplasia Congenital Adrenogenital Syndrome Congenital Hyperadrenocorticism Congenital Adrenogenitalism Congenital Female Adrenal Pseudohermaphroditism
Adrenal Cortical Carcinoma	Adrenocortical Carcinoma Adrenal Cortex Carcinoma Carcinoma Of The Adrenal Cortex Acc Adrenocortical Cancer Carcinoma Adrenocortical
Congestive Heart Failure	Congestive Heart Disease Heart Failure Cardiac Failure Congestive Chf Weak Heart Heart Failure Congestive Ccf - [Congestive Cardiac Failure] Chf - [Congestive Heart Failure] Congestive Cardiac Diseases Congested Heart Failure Congestive Cardiac Failure Cardiac Anasarca Cardiac Oedema Cardiac Stasis Cardiovascular Oedema Cardiac Hydrops Congestive Failure Heart Congestion Heart Fluid Oedematous Heart
Apparent Mineralocorticoid Excess	Cortisol 11-Beta-Ketoreductase Deficiency Apparent Mineralocorticoid Excess Syndrome AME Ame1 11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 Ulick Syndrome Mineralocorticoid Excess Syndrome, Apparent Syndrome Of Apparent Mineralocorticoid Excess Ame 1 11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
Steroid Inherited Metabolic Disorder	Steroid Metabolism, Inborn Errors
Hypoadrenocorticism, Familial	Addison Disease Primary Adrenocortical Insufficiency Addison'S Disease Adrenal Gland Hypofunction Adrenal Hypoplasia Adrenal Aplasia Addison Disease, Chronic Adrenal Insufficiency Primary Hypoadrenalism Hypoadrenocorticism Familial Autoimmune Addison Disease Autoimmune Adrenalitis Classic Addison Disease Primary Addison Disease Addisons Disease Addison Disease, Susceptibility To Autoimmune Primary Adrenal Insufficiency Addison'S Disease Due To Autoimmunity
Adrenal Rest Tumor	Adrenal Rest Neoplasm
Hellp Syndrome	Hemolysis, Elevated Liver Enzymes, Lowered Platelets Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet] Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome
Adrenal Cortex Disease	Adrenal Cortex Diseases
Endocrine Organ Benign Neoplasm
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Acth-Independent Macronodular Adrenal Hyperplasia	Acth-Independent Macronodular Adrenocortical Hyperplasia Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia Corticotropin-Independent Macronodular Adrenal Hyperplasia Cushing Syndrome Due To Macronodular Adrenal Hyperplasia AIMAH1 Aimah Massive Macronodular Adrenocortical Disease Mmad Primary Macronodular Adrenal Hyperplasia Cushing Syndrome, Adrenal, Due To Aimah Primary Bilateral Macronodular Adrenal Hyperplasia Acth-Independent Macronodular Adrenal Hyperplasia 1 Acth-Independent Cushing Syndrome Adrenal Cushing Syndrome Due To Aimah Acth-Independent Macronodular Adrenal Hyperplasia 2
Cortisone Reductase Deficiency	11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of Cortrd Hsd 11b1 Deficiency
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Primary Pigmented Nodular Adrenocortical Disease	Ppnad Primary Pigmented Nodular Adrenal Dysplasia Pigmented Nodular Adrenocortical Disease, Primary, 2 Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Malignant Secondary Hypertension
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Familial Glucocorticoid Deficiency	Glucocorticoid Deficiency Acth Resistance Adrenal Unresponsiveness To Acth Hereditary Unresponsiveness To Adrenocorticotropic Hormone Isolated Glucocorticoid Deficiency Glucocorticoid Deficiency, Familial Glucocorticoid Deficiency 1
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Carney Complex Variant	Carney Complex Carney Syndrome Carney Complex, Type 1 Lamb Syndrome Name Syndrome Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome Carney Complex - Trismus - Pseudocamptodactyly Syndrome Carney Complex, Type 2 Car Cnc1 Carney Myxoma-Endocrine Complex Myxoma - Spotty Pigmentation - Endocrine Overactivity Myxoma, Spotty Pigmentation, And Endocrine Overactivity Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome Carney Complex-Trismus-Pseudocamptodactyly Syndrome CACOV

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-16276	Osilodrostat	Inhibitor	99.82%	Yes
HY-16276A	Osilodrostat phosphate	Inhibitor	98.83%	Yes

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-19833	Lapiteronel	Inhibitor	98.51%	Phase 2
HY-113986	Dexfadrostat	Inhibitor	98.75%	Phase 2

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-113151	18-Oxocortisol	Antagonist	99.05%	Unkown
HY-163689	Vicadrostat	Inhibitor	98.67%	Unkown
HY-W002108	3,4-Dihydroquinolin-2(1H)-one		≥95.0%	Unkown
HY-101217	BI 689648	Inhibitor	99.20%	Unkown
HY-135281	CYP11B2-IN-1	Inhibitor	99.83%	Unkown
HY-155493	CYP19A1/CYP11B2-IN-1	Inhibitor	99.85%	Unkown
HY-113986C	Dexfadrostat hydrochloride	Inhibitor	/	Unkown
HY-122744	CYP11B1-IN-1	Inhibitor	/	Unkown
HY-176480	CYP11B2-IN-3	Inhibitor	/	Unkown
HY-RS03436	CYP11B2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-162574	CYP11B2-IN-2	Inhibitor	/	Unkown
HY-163751	STING-IN-9	Inhibitor	/	Unkown
HY-RS17177	Cyp11b2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23627	Cyp11b2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CYP11B2	RGD	RGD:727886
Macaca mulatta	CYP11B2	VGNC	VGNC:103630
Others	CYP11B2	NCBI