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 NAT2
Gene summary
Basic gene Info.Gene symbolNAT2
Gene nameN-acetyltransferase 2 (arylamine N-acetyltransferase)
CytomapUCSC genome browser: 8p22
Type of geneprotein-coding
DescriptionN-acetyltransferase type 2arylamide acetylase 2arylamine N-acetyltransferase 2
Modification date20141211
dbXrefs MIM : 612182
Ensembl : ENSG00000156006
HPRD : 02000
Vega : OTTHUMG00000130826
ProteinUniProt: P11245
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NAT2
BioGPS: 10
PathwayNCI Pathway Interaction Database: NAT2
Pathway Commons: NAT2
ContextiHOP: NAT2
ligand binding site mutation search in PubMed: NAT2
UCL Cancer Institute: NAT2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for NAT2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for NAT2
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
(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 NAT2 from PDB

Differential gene expression and gene-gene network for NAT2
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 NAT2 and the right PPI network was created from samples without mutations in the LBS of NAT2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for NAT2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0005695Urinary Bladder Neoplasms17Biomarker, GeneticVariation
umls:C0860207Drug-Induced Liver Injury13Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms10Biomarker, GeneticVariation
umls:C0023903Liver Neoplasms7Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms5Biomarker, GeneticVariation
umls:C1961102Precursor Cell Lymphoblastic Leukemia-Lymphoma4Biomarker, GeneticVariation
umls:C0013182Drug Hypersensitivity4Biomarker, GeneticVariation
umls:C3658338Drug-Related Side Effects and Adverse Reactions2Biomarker
umls:C0028796Dermatitis, Occupational1Biomarker, GeneticVariation
umls:C1956346Coronary Artery Disease1Biomarker
umls:C0027794Neural Tube Defects1Biomarker

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

Pharmacological information for NAT2
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NAT2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
COACOENZYME A2pfrAW67 I95 P97 L209
COACOENZYME A2pfrBW67 I95 P97 L209

Conservation information for LBS of NAT2
Multiple alignments for P11245 in multiple species
LBSAA sequence# speciesSpecies
C68NRGGWCLQVNQ2Homo sapiens, Macaca mulatta
C68KRGGWCLQVNH2Mus musculus, Rattus norvegicus
F217SPASVFVSTSF2Mus musculus, Rattus norvegicus
F217SPTSSFITTSF1Homo sapiens
F217SPTSAFTTTSF1Macaca mulatta
F37IRAVPFENLNM2Homo sapiens, Macaca mulatta
F37MRAVPFENLNM1Mus musculus
F37MRAVPFENLSM1Rattus norvegicus
F93MLGGYVYITPV2Mus musculus, Rattus norvegicus
F93MLGGYFYIPPV1Homo sapiens
F93MLGGYVYIPAA1Macaca mulatta
G104NKYSTGMVHLL1Homo sapiens
G104SKYSSEMVHLL1Mus musculus
G104NKYSSEMVHLL1Rattus norvegicus
G104NKYSTGMIHLL1Macaca mulatta
G124YIVDAGSGSSS1Homo sapiens
G124YIVDSAYGGSY1Mus musculus
G124YIVDSAYGSSY1Rattus norvegicus
G124YIADAGFGSSS1Macaca mulatta
H107SSEMVHLLVQV2Mus musculus, Rattus norvegicus
H107STGMVHLLLQV1Homo sapiens
H107STGMIHLLLQV1Macaca mulatta
I95GGYFYIPPVNK1Homo sapiens
I95GGYVYITPVSK1Mus musculus
I95GGYVYITPVNK1Rattus norvegicus
I95GGYVYIPAANK1Macaca mulatta
L209SMNTYLQTSPT2Homo sapiens, Macaca mulatta
L209YVNSYLQTSPA1Mus musculus
L209YVNTYLQTSPA1Rattus norvegicus
L288HGELVFTI2Mus musculus, Rattus norvegicus
L288PGDGSLTI1Homo sapiens
L288PGNGSFTI1Macaca mulatta
P97YFYIPPVNKYS1Homo sapiens
P97YVYITPVSKYS1Mus musculus
P97YVYITPVNKYS1Rattus norvegicus
P97YVYIPAANKYS1Macaca mulatta
S102PVNKYSTGMVH1Homo sapiens
S102PVSKYSSEMVH1Mus musculus
S102PVNKYSSEMVH1Rattus norvegicus
S102AANKYSTGMIH1Macaca mulatta
S215QTSPASVFVST2Mus musculus, Rattus norvegicus
S215QTSPTSSFITT1Homo sapiens
S215QTSPTSAFTTT1Macaca mulatta
S216TSPASVFVSTS2Mus musculus, Rattus norvegicus
S216TSPTSSFITTS1Homo sapiens
S216TSPTSAFTTTS1Macaca mulatta
S287KHGELVFTI2Mus musculus, Rattus norvegicus
S287KPGDGSLTI1Homo sapiens
S287KPGNGSFTI1Macaca mulatta
T103VNKYSTGMVHL1Homo sapiens
T103VSKYSSEMVHL1Mus musculus
T103VNKYSSEMVHL1Rattus norvegicus
T103ANKYSTGMIHL1Macaca mulatta
T214LQTSPASVFVS2Mus musculus, Rattus norvegicus
T214LQTSPTSSFIT1Homo sapiens
T214LQTSPTSAFTT1Macaca mulatta
V98FYIPPVNKYST1Homo sapiens
V98VYITPVSKYSS1Mus musculus
V98VYITPVNKYSS1Rattus norvegicus
V98VYIPAANKYST1Macaca mulatta
W67RNRGGWCLQVN2Homo sapiens, Macaca mulatta
W67KKRGGWCLQVN2Mus musculus, Rattus norvegicus
Y208ESMNTYLQTSP2Homo sapiens, Macaca mulatta
Y208EYVNSYLQTSP1Mus musculus
Y208EYVNTYLQTSP1Rattus norvegicus

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