Details for: CYP11B2

Gene ID: 1585

Symbol: CYP11B2

Ensembl ID: ENSG00000179142

Description: cytochrome P450 family 11 subfamily B member 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 2.73
    Marker Score: 708
  • Cell Name: T cell (CL0000084)
    Fold Change: 2.28
    Marker Score: 3932.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 2.26
    Marker Score: 707
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 2.21
    Marker Score: 700
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.94
    Marker Score: 2172
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.92
    Marker Score: 696
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.9
    Marker Score: 704
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.71
    Marker Score: 550
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.65
    Marker Score: 688
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 1.53
    Marker Score: 701
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 1.43
    Marker Score: 633
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.29
    Marker Score: 678
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 1.27
    Marker Score: 607
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.26
    Marker Score: 1203
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.22
    Marker Score: 695
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.21
    Marker Score: 635
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 1.18
    Marker Score: 653
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.16
    Marker Score: 1852
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7685
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 1.13
    Marker Score: 702
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 1.06
    Marker Score: 703
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.03
    Marker Score: 677
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1
    Marker Score: 585
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.99
    Marker Score: 699
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30339
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.93
    Marker Score: 707
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2730
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.9
    Marker Score: 690
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5105
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.87
    Marker Score: 502
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5220
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 714
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.76
    Marker Score: 458
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.74
    Marker Score: 1192
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.73
    Marker Score: 703.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.72
    Marker Score: 1360
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.69
    Marker Score: 551
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.68
    Marker Score: 693
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.63
    Marker Score: 705
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.58
    Marker Score: 619
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.54
    Marker Score: 700
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.53
    Marker Score: 1075
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.53
    Marker Score: 681
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.5
    Marker Score: 708
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.5
    Marker Score: 708
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.48
    Marker Score: 567
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.44
    Marker Score: 390
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.43
    Marker Score: 706
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.4
    Marker Score: 554
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.36
    Marker Score: 657
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.34
    Marker Score: 5316
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.29
    Marker Score: 1733
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.27
    Marker Score: 639
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.23
    Marker Score: 484
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.21
    Marker Score: 565
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.21
    Marker Score: 711.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.19
    Marker Score: 668
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.17
    Marker Score: 711
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.17
    Marker Score: 708
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.11
    Marker Score: 691
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.08
    Marker Score: 709
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.07
    Marker Score: 709
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.07
    Marker Score: 693
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.05
    Marker Score: 904
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.01
    Marker Score: 487

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Other Information

**Key characteristics:** * It is a member of the CYP11B subfamily of cytochrome P450 enzymes, which are involved in a variety of metabolic pathways. * It is a mitochondrial protein that is responsible for the cytochrome P450-mediated oxidation of various substrates. * It plays a crucial role in the metabolism of hormones, including cortisol, sex hormones, and mineralocorticoids. * Mutations in the CYP11B2 gene have been linked to several human diseases, including cmo-1 deficiency, a genetic disorder characterized by a lack of the enzyme cmo-1, which is involved in the metabolism of cortisol. **Pathways and functions:** * CYP11B2 is involved in the following metabolic pathways: * Biological oxidations * Cytochrome p450 - arranged by substrate type * Defective cyp11b2 causes cmo-1 deficiency * Endogenous sterols * Glucocorticoid biosynthesis * Heme binding * Iron ion binding * Metabolic disorders of biological oxidation enzymes * Metabolism of lipids * Metabolism of steroid hormones * Metabolism of steroids * Mineralocorticoid biosynthesis **Clinical significance:** * Mutations in the CYP11B2 gene have been linked to several human diseases, including cmo-1 deficiency. * CYP11B2 inhibitors are being investigated as potential treatments for these diseases, as they could potentially correct the metabolic abnormalities caused by mutations in this gene. * Understanding the role of CYP11B2 in metabolism could lead to the development of new therapies for diseases associated with this gene.

Genular Protein ID: 2517912878

Symbol: C11B2_HUMAN

Name: Cytochrome P450 11B2, mitochondrial

UniProtKB Accession Codes:

P19099 B0ZBE4 Q16726

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 60 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 15 DrugCentral 1 EC 2 EMBL 7 Ensembl 1 GO 22 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 7 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 4 RefSeq 1 Rhea 32 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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

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. For the full schema, download it here.