mutLBSgeneDB |
Gene summary for AQP2 |
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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. |
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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 |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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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 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() 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) |
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Differential gene expression and gene-gene network for AQP2 |
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Phenotype information for AQP2 |
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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 |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for AQP2 |
![]() 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 status | DrugBank ID | Name | Type | Drug structure |
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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 |
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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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