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mutLBSgeneDB |
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| Gene summary for AQP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | AQP2 |
| Gene name | aquaporin 2 (collecting duct) | |
| Synonyms | AQP-CD|WCH-CD | |
| Cytomap | UCSC genome browser: 12q12-q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000486.5, | |
| Description | ADH water channelAQP-2aquaporin-2aquaporin-CDcollecting duct water channel proteinwater channel protein for renal collecting ductwater-channel aquaporin 2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 107777 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000167580 | ||
| HPRD : 00141 | ||
| Vega : OTTHUMG00000169709 | ||
| Protein | UniProt: P41181 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AQP2 | |
| BioGPS: 359 | ||
| Pathway | NCI Pathway Interaction Database: AQP2 | |
| KEGG: AQP2 | ||
| REACTOME: AQP2 | ||
| Pathway Commons: AQP2 | ||
| Context | iHOP: AQP2 | |
| ligand binding site mutation search in PubMed: AQP2 | ||
| UCL Cancer Institute: AQP2 | ||
| 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:0006833 | water transport | 8584435 | GO:0015793 | glycerol transport | 8584435 | GO:0071280 | cellular response to copper ion | 8584435 | GO:0071288 | cellular response to mercury ion | 8584435 |
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| Ligand binding site mutations for AQP2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H80 | V81I | STAD | 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 AQP2 |
| 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 | H80 | V81I | -0.22560435 |
| (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 AQP2 from PDB |
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| Differential gene expression and gene-gene network for AQP2 |
| 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 AQP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0162283 | Diabetes Insipidus, Nephrogenic | 58 | Biomarker, GeneticVariation, Therapeutic |
| umls:C1563706 | DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL | 14 | Biomarker, GeneticVariation |
| umls:C0878544 | Cardiomyopathies | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AQP2 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of AQP2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4nef | A | H80 |
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| Conservation information for LBS of AQP2 |
| Multiple alignments for P41181 in multiple species |
| LBS | AA sequence | # species | Species | C75 | AVTVACLVGCH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C75 | AVTFGLAVGGQ | 1 | Arabidopsis thaliana | C75 | AVTFGLAVGGH | 1 | Oryza sativa subsp. japonica | C75 | AVTLGLAVGGN | 1 | Arabidopsis thaliana | C75 | AVTLGLAIGGN | 1 | Arabidopsis thaliana | H80 | CLVGCHVSFLR | 3 | Mus musculus, Rattus norvegicus, Bos taurus | H80 | CLVGCHVSVLR | 1 | Homo sapiens | H80 | LAVGGQITVIT | 1 | Arabidopsis thaliana | H80 | LAVGGHITILT | 1 | Oryza sativa subsp. japonica | H80 | LAVGGNITVIT | 1 | Arabidopsis thaliana | H80 | LAIGGNITLIT | 1 | Arabidopsis thaliana |
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