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mutLBSgeneDB |
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| Gene summary for CYP11B2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CYP11B2 |
| Gene name | cytochrome P450, family 11, subfamily B, polypeptide 2 | |
| Synonyms | ALDOS|CPN2|CYP11B|CYP11BL|CYPXIB2|P-450C18|P450C18|P450aldo | |
| Cytomap | UCSC genome browser: 8q21-q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000498.3, | |
| Description | aldosterone synthasealdosterone-synthesizing enzymecytochrome P-450Aldocytochrome P-450C18cytochrome P450 11B2, mitochondrialcytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2mitochondrial cytochrome P450, family 11, subfami | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 124080 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000179142 | ||
| HPRD : 00492 | ||
| Vega : OTTHUMG00000160254 | ||
| Protein | UniProt: P19099 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CYP11B2 | |
| BioGPS: 1585 | ||
| Pathway | NCI Pathway Interaction Database: CYP11B2 | |
| KEGG: CYP11B2 | ||
| REACTOME: CYP11B2 | ||
| Pathway Commons: CYP11B2 | ||
| Context | iHOP: CYP11B2 | |
| ligand binding site mutation search in PubMed: CYP11B2 | ||
| UCL Cancer Institute: CYP11B2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006700 | C21-steroid hormone biosynthetic process | 2256920 | GO:0032342 | aldosterone biosynthetic process | 1741400 |
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| Ligand binding site mutations for CYP11B2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | P322 | P322S | SKCM | 2 | I488 | R490T | BLCA | 1 | P322 | P322T | COAD | 1 | P442 | V441M | COAD | 1 | P322 | P322L | GBM | 1 | A456 | E457Q | HNSC | 1 | F445 | F445I | KIRC | 1 | L382 | L382F | KIRC | 1 | R448 | R448S | LUAD | 1 | V378 | P377A | LUAD | 1 | R110 | M111I | SKCM | 1 | G452 | G452E | SKCM | 1 | W260 | W260C | UCEC | 1 | L373 | R374W | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for CYP11B2 |
| Protein structure of wild type (WT) and mutant type (MT) of CYP11B2 |
| Wild type CYP11B2 |
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| Mutant type CYP11B2 |
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| Free energy of binding of drugs to wild type and mutant tpye of CYP11B2 |
| Gene symbol | Drug name | Free energy of binding (kcal/mol) of wild type | Free energy of binding (kcal/mol) of mutant type | CYP11B2 | Metyrapone | -7.4 | -6.9 | CYP11B2 | Spironolactone | -9.9 | -9.3 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | P322 | P322L | 0.1143982 | W260 | W260C | -1.5631116 | I488 | R490T | -1.5341032 | V378 | P377A | -1.137478 | P442 | V441M | -0.96193152 | L382 | L382F | -0.90407478 | A456 | E457Q | -0.87738751 | L373 | R374W | -0.71388753 | P322 | P322S | -0.60834796 | R448 | R448S | -0.54798083 | P322 | P322T | -0.38366896 | F445 | F445I | -0.36038418 | G452 | G452E | -0.098960898 | R110 | M111I | -0.062933053 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for CYP11B2 from PDB |
| PDB ID | PDB title | PDB structure | 4FDH | Structure of human aldosterone synthase, CYP11B2, in complex with fadrozole |  |
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| Differential gene expression and gene-gene network for CYP11B2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for CYP11B2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020428 | Hyperaldosteronism | 11 | Biomarker, GeneticVariation |
| umls:C0020595 | Hypoaldosteronism | 8 | Biomarker |
| umls:C0268293 | 18-Hydroxylase deficiency | 1 | Biomarker, GeneticVariation |
| umls:C3463917 | CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CYP11B2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00421 | Spironolactone | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CYP11B2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | A | I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | B | I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | C | I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | D | I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | E | I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | F | I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | G | I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | I | I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | J | I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | F | I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | H | I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | K | I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | L | I488 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | F | I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | L | L382 I488 | 1CA | 11-DEOXYCORTICOSTERONE | 4dvq | K | R110 I488 | HEM | HEME B | 4fdh | F | R110 L373 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4fdh | H | R110 L373 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4fdh | E | R110 L373 V378 L382 P442 F445 R448 G452 | HEM | HEME B | 4zgx | A | R110 L373 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4zgx | D | R110 L373 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4zgx | E | R110 L373 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4zgx | I | R110 L373 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4zgx | K | R110 L373 V378 L382 P442 R448 G452 A456 | HEM | HEME B | 4zgx | J | R110 L373 V378 P442 F445 R448 G452 A456 | HEM | HEME B | 4dvq | F | R110 L382 P442 F445 R448 G452 | HEM | HEME B | 4fdh | B | R110 L382 P442 F445 R448 G452 | HEM | HEME B | 4dvq | A | R110 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4fdh | G | R110 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4fdh | D | R110 L382 P442 R448 G452 A456 | HEM | HEME B | 4zgx | L | R110 L382 P442 R448 G452 A456 | HEM | HEME B | 4zgx | G | R110 P322 L373 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4zgx | H | R110 P322 L373 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4fdh | C | R110 P322 L382 P442 R448 G452 A456 | HEM | HEME B | 4dvq | C | R110 P322 V378 L382 P442 F445 R448 G452 | HEM | HEME B | 4fdh | J | R110 P322 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4dvq | B | R110 V378 L382 P442 F445 R448 G452 | HEM | HEME B | 4dvq | D | R110 V378 L382 P442 F445 R448 G452 | HEM | HEME B | 4dvq | K | R110 V378 L382 P442 F445 R448 G452 | HEM | HEME B | 4dvq | E | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4dvq | G | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4dvq | H | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4dvq | I | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4dvq | J | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4dvq | L | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4fdh | A | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4fdh | I | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4zgx | B | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4zgx | C | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4zgx | F | R110 V378 L382 P442 F445 R448 G452 A456 | HEM | HEME B | 4fdh | K | R110 V378 L382 P442 R448 G452 A456 | HEM | HEME B | 4fdh | L | R110 V378 L382 P442 R448 G452 A456 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | D | V378 I488 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | K | V378 I488 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | L | V378 I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | A | W260 I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | B | W260 I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | C | W260 I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | D | W260 I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | E | W260 I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | G | W260 I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | I | W260 I488 | 0T3 | FADROZOLE | 4-[(5R)-5,6,7,8-TETRAHYDROIMIDAZO[1,5-A]PYRIDIN-5- YL]BENZONITRILE | 4fdh | J | W260 I488 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | C | W260 I488 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | B | W260 P442 I488 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | E | W260 V378 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | I | W260 V378 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | A | W260 V378 I488 | QHC | N-[(8R)-4-(4-CHLORO-3-FLUOROPHENYL)-5,6,7,8- TETRAHYDROISOQUINOLIN-8-YL]PROPANAMIDE | 4zgx | J | W260 V378 I488 |
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| Conservation information for LBS of CYP11B2 |
| Multiple alignments for P19099 in multiple species |
| LBS | AA sequence | # species | Species |
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