|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for NAT2 |
 Gene summary |
| Basic gene Info. | Gene symbol | NAT2 |
| Gene name | N-acetyltransferase 2 (arylamine N-acetyltransferase) | |
| Synonyms | AAC2|NAT-2|PNAT | |
| Cytomap | UCSC genome browser: 8p22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000015.2, | |
| Description | N-acetyltransferase type 2arylamide acetylase 2arylamine N-acetyltransferase 2 | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 612182 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000156006 | ||
| HPRD : 02000 | ||
| Vega : OTTHUMG00000130826 | ||
| Protein | UniProt: P11245 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NAT2 | |
| BioGPS: 10 | ||
| Pathway | NCI Pathway Interaction Database: NAT2 | |
| KEGG: NAT2 | ||
| REACTOME: NAT2 | ||
| Pathway Commons: NAT2 | ||
| Context | iHOP: NAT2 | |
| ligand binding site mutation search in PubMed: NAT2 | ||
| UCL Cancer Institute: NAT2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
| Top |
| Ligand binding site mutations for NAT2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | P97,I95 | P96L | STAD | 1 | W67 | W67R | STAD | 1 | L209 | T211M | 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. |
| Top |
| 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. |
| LBS | AAchange of nsSNV | Relative stability change | P97 | P96L | -0.90271196 | I95 | P96L | -0.90271196 | L209 | T211M | -0.83099409 | W67 | W67R | -0.062762948 |
| (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 |
| Top |
| 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) |
| Top |
| Top |
| Phenotype information for NAT2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0005695 | Urinary Bladder Neoplasms | 17 | Biomarker, GeneticVariation |
| umls:C0860207 | Drug-Induced Liver Injury | 13 | Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 10 | Biomarker, GeneticVariation |
| umls:C0023903 | Liver Neoplasms | 7 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 5 | Biomarker, GeneticVariation |
| umls:C1961102 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 4 | Biomarker, GeneticVariation |
| umls:C0013182 | Drug Hypersensitivity | 4 | Biomarker, GeneticVariation |
| umls:C3658338 | Drug-Related Side Effects and Adverse Reactions | 2 | Biomarker |
| umls:C0028796 | Dermatitis, Occupational | 1 | Biomarker, GeneticVariation |
| umls:C1956346 | Coronary Artery Disease | 1 | Biomarker |
| umls:C0023530 | Leukopenia | 1 | Biomarker |
| umls:C0027794 | Neural Tube Defects | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| 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 status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of NAT2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | COA | COENZYME A | 2pfr | A | W67 I95 P97 L209 | COA | COENZYME A | 2pfr | B | W67 I95 P97 L209 |
| Top |
| Conservation information for LBS of NAT2 |
| Multiple alignments for P11245 in multiple species |
| LBS | AA sequence | # species | Species | C68 | NRGGWCLQVNQ | 2 | Homo sapiens, Macaca mulatta | C68 | KRGGWCLQVNH | 2 | Mus musculus, Rattus norvegicus | F217 | SPASVFVSTSF | 2 | Mus musculus, Rattus norvegicus | F217 | SPTSSFITTSF | 1 | Homo sapiens | F217 | SPTSAFTTTSF | 1 | Macaca mulatta | F37 | IRAVPFENLNM | 2 | Homo sapiens, Macaca mulatta | F37 | MRAVPFENLNM | 1 | Mus musculus | F37 | MRAVPFENLSM | 1 | Rattus norvegicus | F93 | MLGGYVYITPV | 2 | Mus musculus, Rattus norvegicus | F93 | MLGGYFYIPPV | 1 | Homo sapiens | F93 | MLGGYVYIPAA | 1 | Macaca mulatta | G104 | NKYSTGMVHLL | 1 | Homo sapiens | G104 | SKYSSEMVHLL | 1 | Mus musculus | G104 | NKYSSEMVHLL | 1 | Rattus norvegicus | G104 | NKYSTGMIHLL | 1 | Macaca mulatta | G124 | YIVDAGSGSSS | 1 | Homo sapiens | G124 | YIVDSAYGGSY | 1 | Mus musculus | G124 | YIVDSAYGSSY | 1 | Rattus norvegicus | G124 | YIADAGFGSSS | 1 | Macaca mulatta | H107 | SSEMVHLLVQV | 2 | Mus musculus, Rattus norvegicus | H107 | STGMVHLLLQV | 1 | Homo sapiens | H107 | STGMIHLLLQV | 1 | Macaca mulatta | I95 | GGYFYIPPVNK | 1 | Homo sapiens | I95 | GGYVYITPVSK | 1 | Mus musculus | I95 | GGYVYITPVNK | 1 | Rattus norvegicus | I95 | GGYVYIPAANK | 1 | Macaca mulatta | L209 | SMNTYLQTSPT | 2 | Homo sapiens, Macaca mulatta | L209 | YVNSYLQTSPA | 1 | Mus musculus | L209 | YVNTYLQTSPA | 1 | Rattus norvegicus | L288 | HGELVFTI | 2 | Mus musculus, Rattus norvegicus | L288 | PGDGSLTI | 1 | Homo sapiens | L288 | PGNGSFTI | 1 | Macaca mulatta | P97 | YFYIPPVNKYS | 1 | Homo sapiens | P97 | YVYITPVSKYS | 1 | Mus musculus | P97 | YVYITPVNKYS | 1 | Rattus norvegicus | P97 | YVYIPAANKYS | 1 | Macaca mulatta | S102 | PVNKYSTGMVH | 1 | Homo sapiens | S102 | PVSKYSSEMVH | 1 | Mus musculus | S102 | PVNKYSSEMVH | 1 | Rattus norvegicus | S102 | AANKYSTGMIH | 1 | Macaca mulatta | S215 | QTSPASVFVST | 2 | Mus musculus, Rattus norvegicus | S215 | QTSPTSSFITT | 1 | Homo sapiens | S215 | QTSPTSAFTTT | 1 | Macaca mulatta | S216 | TSPASVFVSTS | 2 | Mus musculus, Rattus norvegicus | S216 | TSPTSSFITTS | 1 | Homo sapiens | S216 | TSPTSAFTTTS | 1 | Macaca mulatta | S287 | KHGELVFTI | 2 | Mus musculus, Rattus norvegicus | S287 | KPGDGSLTI | 1 | Homo sapiens | S287 | KPGNGSFTI | 1 | Macaca mulatta | T103 | VNKYSTGMVHL | 1 | Homo sapiens | T103 | VSKYSSEMVHL | 1 | Mus musculus | T103 | VNKYSSEMVHL | 1 | Rattus norvegicus | T103 | ANKYSTGMIHL | 1 | Macaca mulatta | T214 | LQTSPASVFVS | 2 | Mus musculus, Rattus norvegicus | T214 | LQTSPTSSFIT | 1 | Homo sapiens | T214 | LQTSPTSAFTT | 1 | Macaca mulatta | V98 | FYIPPVNKYST | 1 | Homo sapiens | V98 | VYITPVSKYSS | 1 | Mus musculus | V98 | VYITPVNKYSS | 1 | Rattus norvegicus | V98 | VYIPAANKYST | 1 | Macaca mulatta | W67 | RNRGGWCLQVN | 2 | Homo sapiens, Macaca mulatta | W67 | KKRGGWCLQVN | 2 | Mus musculus, Rattus norvegicus | Y208 | ESMNTYLQTSP | 2 | Homo sapiens, Macaca mulatta | Y208 | EYVNSYLQTSP | 1 | Mus musculus | Y208 | EYVNTYLQTSP | 1 | Rattus norvegicus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |