1. Gene
  2. CYP11B2 - cytochrome P450 family 11 subfamily B member 2 Gene

CYP11B2 - cytochrome P450 family 11 subfamily B member 2 Gene

中文名称:细胞色素 P450 家族 11 亚家族 B 成员 2

种属: Homo sapiens

同用名: CPN2; ALDOS; CYP11B; CYP11BL; CYPXIB2; P450C18; P-450C18; P450aldo

基因 ID: 1585 | 基因类型: protein coding

关于 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).

功能概要

该基因编码细胞色素 P450 酶超家族的成员。细胞色素 P450 蛋白是单加氧酶,可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。这种蛋白质定位于线粒体内膜。该酶具有合成醛固酮和 18-氧皮质醇的类固醇 18-羟化酶活性以及类固醇 11 β-羟化酶活性。该基因的突变会导致皮质酮甲基氧化酶缺乏症。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

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

CYP11B2 蛋白结构

p450

p450: Cytochrome P450 (42 - 491)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 503 a.a.
蛋白主名 其他名称

cytochrome P450 11B2, mitochondrial

aldosterone synthase

重组 CYP11B2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72163 CYP11B2 Protein, Human (His-SUMO) P19099 (G25-N503) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CYP11B2 RGD RGD:727886
Macaca mulatta CYP11B2 VGNC VGNC:103630
Others CYP11B2 NCBI