mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 AQP2
Gene summary
Basic gene Info.Gene symbolAQP2
Gene nameaquaporin 2 (collecting duct)
SynonymsAQP-CD|WCH-CD
CytomapUCSC genome browser: 12q12-q13
Type of geneprotein-coding
RefGenesNM_000486.5,
DescriptionADH water channelAQP-2aquaporin-2aquaporin-CDcollecting duct water channel proteinwater channel protein for renal collecting ductwater-channel aquaporin 2
Modification date20141222
dbXrefs MIM : 107777
HGNC : HGNC
Ensembl : ENSG00000167580
HPRD : 00141
Vega : OTTHUMG00000169709
ProteinUniProt: P41181
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AQP2
BioGPS: 359
PathwayNCI Pathway Interaction Database: AQP2
KEGG: AQP2
REACTOME: AQP2
Pathway Commons: AQP2
ContextiHOP: AQP2
ligand binding site mutation search in PubMed: AQP2
UCL Cancer Institute: AQP2
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:0006833water transport8584435
GO:0015793glycerol transport8584435
GO:0071280cellular response to copper ion8584435
GO:0071288cellular response to mercury ion8584435


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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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
H80V81ISTAD1
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

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
H80V81I-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)
* Left PPI network was created from samples with mutations in the LBS of AQP2 and the right PPI network was created from samples without mutations in the LBS of AQP2. 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 AQP2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0162283Diabetes Insipidus, Nephrogenic58Biomarker, GeneticVariation, Therapeutic
umls:C1563706DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL14Biomarker, GeneticVariation
umls:C0878544Cardiomyopathies1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype 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.
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 AQP2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4nefAH80


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Conservation information for LBS of AQP2
Multiple alignments for P41181 in multiple species
LBSAA sequence# speciesSpecies
C75AVTVACLVGCH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C75AVTFGLAVGGQ1Arabidopsis thaliana
C75AVTFGLAVGGH1Oryza sativa subsp. japonica
C75AVTLGLAVGGN1Arabidopsis thaliana
C75AVTLGLAIGGN1Arabidopsis thaliana
H80CLVGCHVSFLR3Mus musculus, Rattus norvegicus, Bos taurus
H80CLVGCHVSVLR1Homo sapiens
H80LAVGGQITVIT1Arabidopsis thaliana
H80LAVGGHITILT1Oryza sativa subsp. japonica
H80LAVGGNITVIT1Arabidopsis thaliana
H80LAIGGNITLIT1Arabidopsis thaliana


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