mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CYP2A6
Gene summary
Basic gene Info.Gene symbolCYP2A6
Gene namecytochrome P450, family 2, subfamily A, polypeptide 6
SynonymsCPA6|CYP2A|CYP2A3|CYPIIA6|P450C2A|P450PB
CytomapUCSC genome browser: 19q13.2
Type of geneprotein-coding
RefGenesNM_000762.5,
Description1,4-cineole 2-exo-monooxygenasecoumarin 7-hydroxylasecytochrome P450 2A6cytochrome P450 IIA3cytochrome P450(I)cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6flavoprotein-linked monooxygenasexenobiotic monooxygenase
Modification date20141207
dbXrefs MIM : 122720
HGNC : HGNC
Ensembl : ENSG00000255974
HPRD : 00420
Vega : OTTHUMG00000182713
ProteinUniProt: P11509
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CYP2A6
BioGPS: 1548
PathwayNCI Pathway Interaction Database: CYP2A6
KEGG: CYP2A6
REACTOME: CYP2A6
Pathway Commons: CYP2A6
ContextiHOP: CYP2A6
ligand binding site mutation search in PubMed: CYP2A6
UCL Cancer Institute: CYP2A6
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0009804coumarin metabolic process19651758
GO:0017144drug metabolic process19651758
GO:0042738exogenous drug catabolic process15680923
GO:0046226coumarin catabolic process19029318


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Ligand binding site mutations for CYP2A6

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
I366D364ABRCA1
Q360R361ICOAD1
R101E103KCOAD1
G301G301WCOAD1
G441E442QLUAD1
V306V306ILUAD1
S369M368TLUSC1
F209G207VSKCM1
N297T295MUCEC1
R437R437WUCEC1
L395P393HUCEC1
V116V116MUCEC1
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 CYP2A6
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

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.
LBSAAchange of nsSNVRelative stability change
Q360R361I-1.3237857
R101E103K-1.1487635
V116V116M-1.0648213
V306V306I-0.89644112
L395P393H-0.86832604
S369M368T-0.7997672
N297T295M-0.64990759
I366D364A-0.5965848
R437R437W-0.56449858
G301G301W-0.46187381
F209G207V-0.28524299
G441E442Q-0.10550226
(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 CYP2A6 from PDB

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Differential gene expression and gene-gene network for CYP2A6
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)
* Left PPI network was created from samples with mutations in the LBS of CYP2A6 and the right PPI network was created from samples without mutations in the LBS of CYP2A6. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for CYP2A6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0024121Lung Neoplasms9AlteredExpression, Biomarker, GeneticVariation
umls:C0040336Tobacco Use Disorder5Biomarker, GeneticVariation
umls:C0001418Adenocarcinoma4Biomarker, GeneticVariation
umls:C0279626Esophageal Squamous Cell Carcinoma3Biomarker, GeneticVariation
umls:C0009404Colorectal Neoplasms2AlteredExpression, Biomarker
umls:C0262584Carcinoma, Small Cell2Biomarker
umls:C0019196Hepatitis C2Biomarker
umls:C0038356Stomach Neoplasms2Biomarker
umls:C1861063TOBACCO ADDICTION, SUSCEPTIBILITY TO2Biomarker, Therapeutic
umls:C0034067Pulmonary Emphysema1Biomarker
umls:C0006111Brain Diseases1Biomarker
umls:C0206704Carcinoma, Large Cell1Biomarker
umls:C0242656Disease Progression1Biomarker
umls:C0860207Drug-Induced Liver Injury1Biomarker
umls:C0019163Hepatitis B1Biomarker
umls:C0023897Liver Diseases, Parasitic1Biomarker
umls:C0027439Nasopharyngeal Neoplasms1Biomarker
umls:C0029106Opisthorchiasis1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for CYP2A6
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB046652H-1-BENZOPYRAN-2-ONESmall molecule
ExperimentalDB07609N,N-DIMETHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINESmall molecule
ExperimentalDB07617N-METHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINESmall molecule
ExperimentalDB07621(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINESmall molecule
ExperimentalDB076234,4'-DIPYRIDYL DISULFIDESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CYP2A6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
SNESABINENE(1S,5S)-4-METHYLIDENE-1-(PROPAN-2-YL) BICYCLO[3.1.0]HEXANE4ruiAF209 G301
SNESABINENE(1S,5S)-4-METHYLIDENE-1-(PROPAN-2-YL) BICYCLO[3.1.0]HEXANE4ruiCF209 G301
SNESABINENE(1S,5S)-4-METHYLIDENE-1-(PROPAN-2-YL) BICYCLO[3.1.0]HEXANE4ruiEF209 G301
D1GN,N-DIMETHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE2fduAF209 N297 G301
D1GN,N-DIMETHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE2fduBF209 N297 G301
D1GN,N-DIMETHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE2fduCF209 N297 G301
D1GN,N-DIMETHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE2fduDF209 N297 G301
D2GN-METHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE2fdvAF209 N297 G301
D2GN-METHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE2fdvBF209 N297 G301
D2GN-METHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE2fdvCF209 N297 G301
D2GN-METHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE2fdvDF209 N297 G301
D3G(5-PYRIDIN-3-YLFURAN-2-YL)METHANAMINE2fdwAF209 N297 G301
D3G(5-PYRIDIN-3-YLFURAN-2-YL)METHANAMINE2fdwCF209 N297 G301
D4G4,4'-DITHIODIPYRIDINE2fdyAF209 N297 G301
D4G4,4'-DITHIODIPYRIDINE2fdyBF209 N297 G301
D4G4,4'-DITHIODIPYRIDINE2fdyCF209 N297 G301
D4G4,4'-DITHIODIPYRIDINE2fdyDF209 N297 G301
9PL(+)-PILOCARPINE3t3rAF209 N297 G301
9PL(+)-PILOCARPINE3t3rBF209 N297 G301
9PL(+)-PILOCARPINE3t3rCF209 N297 G301
9PL(+)-PILOCARPINE3t3rDF209 N297 G301
NCT(S)-NICOTINE4ejjCF209 N297 G301
SNESABINENE(1S,5S)-4-METHYLIDENE-1-(PROPAN-2-YL) BICYCLO[3.1.0]HEXANE4ruiDF209 N297 G301
SNESABINENE(1S,5S)-4-METHYLIDENE-1-(PROPAN-2-YL) BICYCLO[3.1.0]HEXANE4ruiBF209 N297 G301
SNESABINENE(1S,5S)-4-METHYLIDENE-1-(PROPAN-2-YL) BICYCLO[3.1.0]HEXANE4ruiFF209 N297 G301
D3G(5-PYRIDIN-3-YLFURAN-2-YL)METHANAMINE2fdwBF209 N297 G301 I366
D3G(5-PYRIDIN-3-YLFURAN-2-YL)METHANAMINE2fdwDF209 N297 G301 I366
NCT(S)-NICOTINE4ejjAF209 N297 G301 I366
9PL(+)-PILOCARPINE3t3qAF209 N297 I366
9PL(+)-PILOCARPINE3t3qBF209 N297 I366
9PL(+)-PILOCARPINE3t3qCF209 N297 I366
9PL(+)-PILOCARPINE3t3qDF209 N297 I366
N4EPHENACETIN3ebsAN297
N4EPHENACETIN3ebsDN297
COUCOUMARIN1z10AN297 G301
COUCOUMARIN1z10BN297 G301
COUCOUMARIN1z10CN297 G301
COUCOUMARIN1z10DN297 G301
8MOMETHOXSALEN1z11AN297 G301 I366
8MOMETHOXSALEN1z11BN297 G301 I366
8MOMETHOXSALEN1z11CN297 G301 I366
8MOMETHOXSALEN1z11DN297 G301 I366
NCT(S)-NICOTINE4ejjDN297 G301 I366
N4EPHENACETIN3ebsBN297 I366
HEMHEME B1z10CR101 G301 L395 R437 G441
HEMHEME B1z10DR101 G301 Q360 L395 R437 G441
HEMHEME B1z11AR101 G301 Q360 L395 R437 G441
HEMHEME B1z11DR101 G301 Q360 L395 R437 G441
HEMHEME B2fdwCR101 G301 Q360 L395 R437 G441
HEMHEME B1z11BR101 G301 Q360 S369 L395 R437 G441
HEMHEME B4ruiDR101 G301 Q360 S369 L395 R437 G441
HEMHEME B4ruiAR101 G301 V306 I366 S369 L395 R437 G441
HEMHEME B2fdyCR101 G301 V306 L395 R437 G441
HEMHEME B4ejjCR101 G301 V306 L395 R437 G441
HEMHEME B3t3rBR101 G301 V306 Q360 I366 L395 R437 G441
HEMHEME B4ejjBR101 G301 V306 Q360 I366 S369 L395 R437 G441
HEMHEME B1z10BR101 G301 V306 Q360 L395 R437 G441
HEMHEME B1z11CR101 G301 V306 Q360 L395 R437 G441
HEMHEME B2fduCR101 G301 V306 Q360 L395 R437 G441
HEMHEME B2fduDR101 G301 V306 Q360 L395 R437 G441
HEMHEME B2fdwAR101 G301 V306 Q360 L395 R437 G441
HEMHEME B2fdwDR101 G301 V306 Q360 L395 R437 G441
HEMHEME B2fdyAR101 G301 V306 Q360 L395 R437 G441
HEMHEME B3t3rCR101 G301 V306 Q360 L395 R437 G441
HEMHEME B4ruiBR101 G301 V306 Q360 L395 R437 G441
HEMHEME B1z10AR101 G301 V306 Q360 S369 L395 R437 G441
HEMHEME B2fduAR101 G301 V306 Q360 S369 L395 R437 G441
HEMHEME B2fduBR101 G301 V306 Q360 S369 L395 R437 G441
HEMHEME B2fdvAR101 G301 V306 Q360 S369 L395 R437 G441
HEMHEME B3t3rDR101 G301 V306 Q360 S369 L395 R437 G441
HEMHEME B4ruiFR101 G301 V306 Q360 S369 L395 R437 G441
HEMHEME B2fdyDR101 G301 V306 S369 L395 R437 G441
HEMHEME B4ejjDR101 G301 V306 S369 L395 R437 G441
HEMHEME B4ruiCR101 G301 V306 S369 L395 R437 G441
HEMHEME B2fdwBR101 V116 G301 Q360 L395 R437 G441
HEMHEME B4ejjAR101 V116 G301 S369 L395 R437 G441
HEMHEME B4ruiER101 V116 G301 V306 Q360 S369 R437 G441
HEMHEME B3t3rAR101 V116 G301 V306 S369 L395 R437 G441
HEMHEME B3t3qDR101 V116 Q360 L395 R437 G441
HEMHEME B3t3qAR101 V116 V306 Q360 L395 R437 G441
HEMHEME B3t3qCR101 V116 V306 Q360 L395 R437 G441
HEMHEME B3t3qBR101 V306 L395 R437 G441
HEMHEME B3ebsCR101 V306 Q360 I366 L395 R437 G441
HEMHEME B3ebsDR101 V306 Q360 I366 L395 R437 G441
HEMHEME B2fdvCR101 V306 Q360 L395 R437 G441
HEMHEME B3ebsAR101 V306 Q360 L395 R437 G441
HEMHEME B3ebsBR101 V306 Q360 L395 R437 G441
HEMHEME B2fdvBR101 V306 Q360 S369 L395 R437 G441
HEMHEME B2fdvDR101 V306 Q360 S369 L395 R437 G441
HEMHEME B2fdyBR101 V306 Q360 S369 L395 R437 G441


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Conservation information for LBS of CYP2A6
Multiple alignments for P11509 in multiple species
LBSAA sequence# speciesSpecies


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