CYP11B2 | ENSG00000179142 | NCBI 1585

Details for: CYP11B2

Gene ID: 1585

Symbol: CYP11B2

Ensembl ID: ENSG00000179142

Description: cytochrome P450 family 11 subfamily B member 2

Associated with

Biological oxidations
(R-HSA-211859)
Cytochrome p450 - arranged by substrate type
(R-HSA-211897)
Defective cyp11b2 causes cmo-1 deficiency
(R-HSA-5579009)
Disease
(R-HSA-1643685)
Diseases of metabolism
(R-HSA-5668914)
Endogenous sterols
(R-HSA-211976)
Glucocorticoid biosynthesis
(R-HSA-194002)
Metabolic disorders of biological oxidation enzymes
(R-HSA-5579029)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Metabolism of steroid hormones
(R-HSA-196071)
Metabolism of steroids
(R-HSA-8957322)
Mineralocorticoid biosynthesis
(R-HSA-193993)
Phase i - functionalization of compounds
(R-HSA-211945)
Aldosterone biosynthetic process
(GO:0032342)
C21-steroid hormone biosynthetic process
(GO:0006700)
Cellular response to hormone stimulus
(GO:0032870)
Cellular response to peptide hormone stimulus
(GO:0071375)
Cellular response to potassium ion
(GO:0035865)
Cholesterol metabolic process
(GO:0008203)
Corticosterone 18-monooxygenase activity
(GO:0047783)
Cortisol biosynthetic process
(GO:0034651)
Cortisol metabolic process
(GO:0034650)
Glucocorticoid biosynthetic process
(GO:0006704)
Heme binding
(GO:0020037)
Iron ion binding
(GO:0005506)
Mineralocorticoid biosynthetic process
(GO:0006705)
Mitochondrial inner membrane
(GO:0005743)
Mitochondrion
(GO:0005739)
Potassium ion homeostasis
(GO:0055075)
Regulation of blood volume by renal aldosterone
(GO:0002017)
Renal water homeostasis
(GO:0003091)
Sodium ion homeostasis
(GO:0055078)
Steroid 11-beta-monooxygenase activity
(GO:0004507)
Steroid hydroxylase activity
(GO:0008395)
Sterol metabolic process
(GO:0016125)

Other Information

Proteins

Cytochrome P450 11B2, mitochondrial

Genular Protein ID: 2517912878

Symbol: C11B2_HUMAN

Name: Cytochrome P450 11B2, mitochondrial

UniProtKB Accession Codes:

P19099 B0ZBE4 Q16726

Database IDs:

Citations:

PubMed ID: 2592361

Title: Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta).

PubMed ID: 2592361

DOI: 10.1016/s0021-9258(19)30030-4

PubMed ID: 2256920

Title: Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism.

PubMed ID: 2256920

DOI: 10.1016/s0006-291x(05)81058-7

PubMed ID: 2040591

Title: Aldosterone synthase cytochrome P-450 expressed in the adrenals of patients with primary aldosteronism.

PubMed ID: 2040591

DOI: 10.1016/s0021-9258(18)99077-0

PubMed ID: 1775135

Title: The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex.

PubMed ID: 1775135

DOI: 10.1210/mend-5-10-1513

PubMed ID: 1518866

Title: Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.

PubMed ID: 1518866

DOI: 10.1073/pnas.89.17.8327

PubMed ID: 9139807

Title: Angiotensin II and potassium regulate human CYP11B2 transcription through common cis-elements.

PubMed ID: 9139807

DOI: 10.1210/mend.11.5.9920

PubMed ID: 9814482

Title: Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol.

PubMed ID: 9814482

DOI: 10.1210/jcem.83.11.5237

PubMed ID: 12530636

Title: Modulation of steroid hydroxylase activity in stably transfected V79MZh11B1 and V79MZh11B2 cells by PKC and PKD inhibitors.

PubMed ID: 12530636

DOI: 10.1081/erc-120016808

PubMed ID: 11856349

Title: The effect of amino-acid substitutions I112P, D147E and K152N in CYP11B2 on the catalytic activities of the enzyme.

PubMed ID: 11856349

DOI: 10.1046/j.1432-1033.2002.02729.x

PubMed ID: 15356073

Title: Studies on the origin of circulating 18-hydroxycortisol and 18-oxocortisol in normal human subjects.

PubMed ID: 15356073

DOI: 10.1210/jc.2004-0379

PubMed ID: 20200334

Title: Adrenocortical zonation in humans under normal and pathological conditions.

PubMed ID: 20200334

DOI: 10.1210/jc.2009-2010

PubMed ID: 22446688

Title: Human aldosterone synthase: recombinant expression in E. coli and purification enables a detailed biochemical analysis of the protein on the molecular level.

PubMed ID: 22446688

DOI: 10.1016/j.jsbmb.2012.03.002

PubMed ID: 23322723

Title: Structural insights into aldosterone synthase substrate specificity and targeted inhibition.

PubMed ID: 23322723

DOI: 10.1210/me.2012-1287

PubMed ID: 1594605

Title: Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.

PubMed ID: 1594605

DOI: 10.1073/pnas.89.11.4996

PubMed ID: 1346492

Title: Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.

PubMed ID: 1346492

DOI: 10.1016/0006-291x(92)91827-d

PubMed ID: 8439335

Title: Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450(C18) gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.

PubMed ID: 8439335

DOI: 10.1006/bbrc.1993.1128

PubMed ID: 9177280

Title: CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).

PubMed ID: 9177280

DOI: 10.1006/bbrc.1997.6651

PubMed ID: 9625333

Title: Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.

PubMed ID: 9625333

DOI: 10.1007/s004310050833

PubMed ID: 9814506

Title: Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.

PubMed ID: 9814506

DOI: 10.1210/jcem.83.11.5258

PubMed ID: 9931115

Title: Genetic polymorphism of CYP11B2 gene and hypertension in Japanese.

PubMed ID: 9931115

DOI: 10.1161/01.hyp.33.1.266

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 10391210

Title: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.

PubMed ID: 10391210

DOI: 10.1038/10297

PubMed ID: 11238478

Title: Type 1 aldosterone synthase deficiency presenting in a middle-aged man.

PubMed ID: 11238478

DOI: 10.1210/jcem.86.3.7326

PubMed ID: 12788848

Title: A compound heterozygote case of type II aldosterone synthase deficiency.

PubMed ID: 12788848

DOI: 10.1210/jc.2003-030353

Sequence Information:

Length: 503
Mass: 57560
Checksum: 42BA671704CEE35D
Sequence:

MALRAKAEVC VAAPWLSLQR ARALGTRAAR APRTVLPFEA MPQHPGNRWL RLLQIWREQG 
YEHLHLEMHQ TFQELGPIFR YNLGGPRMVC VMLPEDVEKL QQVDSLHPCR MILEPWVAYR 
QHRGHKCGVF LLNGPEWRFN RLRLNPDVLS PKAVQRFLPM VDAVARDFSQ ALKKKVLQNA 
RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM 
PRSLSRWISP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF NRPQHYTGIV AELLLKAELS 
LEAIKANSME LTAGSVDTTA FPLLMTLFEL ARNPDVQQIL RQESLAAAAS ISEHPQKATT 
ELPLLRAALK ETLRLYPVGL FLERVVSSDL VLQNYHIPAG TLVQVFLYSL GRNAALFPRP 
ERYNPQRWLD IRGSGRNFHH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH FLVETLTQED 
IKMVYSFILR PGTSPLLTFR AIN

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: CYP11B2

Associated with

Other Information

Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta). PubMed ID: 2592361

Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism. PubMed ID: 2256920

Aldosterone synthase cytochrome P-450 expressed in the adrenals of patients with primary aldosteronism. PubMed ID: 2040591

The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. PubMed ID: 1775135

Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. PubMed ID: 1518866

Angiotensin II and potassium regulate human CYP11B2 transcription through common cis-elements. PubMed ID: 9139807

Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol. PubMed ID: 9814482

Modulation of steroid hydroxylase activity in stably transfected V79MZh11B1 and V79MZh11B2 cells by PKC and PKD inhibitors. PubMed ID: 12530636

The effect of amino-acid substitutions I112P, D147E and K152N in CYP11B2 on the catalytic activities of the enzyme. PubMed ID: 11856349

Studies on the origin of circulating 18-hydroxycortisol and 18-oxocortisol in normal human subjects. PubMed ID: 15356073

Adrenocortical zonation in humans under normal and pathological conditions. PubMed ID: 20200334

Human aldosterone synthase: recombinant expression in E. coli and purification enables a detailed biochemical analysis of the protein on the molecular level. PubMed ID: 22446688

Structural insights into aldosterone synthase substrate specificity and targeted inhibition. PubMed ID: 23322723

Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. PubMed ID: 1594605

Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. PubMed ID: 1346492

Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450(C18) gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. PubMed ID: 8439335

CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). PubMed ID: 9177280

Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. PubMed ID: 9625333

Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. PubMed ID: 9814506

Genetic polymorphism of CYP11B2 gene and hypertension in Japanese. PubMed ID: 9931115

Characterization of single-nucleotide polymorphisms in coding regions of human genes. PubMed ID: 10391209

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. PubMed ID: 10391210

Type 1 aldosterone synthase deficiency presenting in a middle-aged man. PubMed ID: 11238478

A compound heterozygote case of type II aldosterone synthase deficiency. PubMed ID: 12788848