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 TRPV4
Gene summary
Basic gene Info.Gene symbolTRPV4
Gene nametransient receptor potential cation channel, subfamily V, member 4
CytomapUCSC genome browser: 12q24.1
Type of geneprotein-coding
DescriptionOSM9-like transient receptor potential channel 4osm-9-like TRP channel 4osmosensitive transient receptor potential channel 4transient receptor potential cation channel subfamily V member 4transient receptor potential protein 12vanilloid receptor-like
Modification date20141222
dbXrefs MIM : 605427
Ensembl : ENSG00000111199
HPRD : 05667
Vega : OTTHUMG00000169277
ProteinUniProt: Q9HBA0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TRPV4
BioGPS: 59341
PathwayNCI Pathway Interaction Database: TRPV4
Pathway Commons: TRPV4
ContextiHOP: TRPV4
ligand binding site mutation search in PubMed: TRPV4
UCL Cancer Institute: TRPV4
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006816calcium ion transport18458941
GO:0006874cellular calcium ion homeostasis12724311
GO:0007204positive regulation of cytosolic calcium ion concentration18458941

Ligand binding site mutations for TRPV4
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
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 TRPV4
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 TRPV4 from PDB

Differential gene expression and gene-gene network for TRPV4
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 TRPV4 and the right PPI network was created from samples without mutations in the LBS of TRPV4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for TRPV4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0265281Metatropic dwarfism8Biomarker, GeneticVariation
umls:C0265280Spondylometaphyseal dysplasia, Kozlowski type5Biomarker, GeneticVariation
umls:C0026847Muscular Atrophy, Spinal5Biomarker
umls:C0432227Brachyolmia Type 34Biomarker, GeneticVariation
umls:C0024117Pulmonary Disease, Chronic Obstructive4Biomarker, GeneticVariation
umls:C0007959Charcot-Marie-Tooth Disease4Biomarker
umls:C1868616Parastremmatic dwarfism3Biomarker, GeneticVariation
umls:C0751335SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL3Biomarker, GeneticVariation
umls:C1853710Hereditary Motor And Sensory Neuropathy, Type IIC2Biomarker, GeneticVariation
umls:C0005940Bone Diseases2Biomarker
umls:C2079540Charcot-Marie-Tooth disease, Type 2C2Biomarker, GeneticVariation
umls:C3159322Brachyolmia Type 21Biomarker, GeneticVariation
umls:C0020625Hyponatremia1Biomarker, GeneticVariation
umls:C0042035Urination Disorders1Biomarker

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

Pharmacological information for TRPV4
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 TRPV4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ATPATP4dx2AY236 R248

Conservation information for LBS of TRPV4
Multiple alignments for Q9HBA0 in multiple species
LBSAA sequence# speciesSpecies
E337ADNTRENTKFV3Homo sapiens, Mus musculus, Rattus norvegicus
K192EPSTGKTCLPK3Homo sapiens, Mus musculus, Rattus norvegicus
K197KTCLPKALLNL3Homo sapiens, Mus musculus, Rattus norvegicus
L200LPKALLNLSNG3Homo sapiens, Mus musculus, Rattus norvegicus
N201PKALLNLSNGR3Homo sapiens, Mus musculus, Rattus norvegicus
Q239IYYRGQTALHI2Homo sapiens, Rattus norvegicus
Q239IYYRGQTSLHI1Mus musculus
R248HIAIERRCKHY3Homo sapiens, Mus musculus, Rattus norvegicus
R336IADNTRENTKF3Homo sapiens, Mus musculus, Rattus norvegicus
T335AIADNTRENTK3Homo sapiens, Mus musculus, Rattus norvegicus
Y236FRDIYYRGQTA2Homo sapiens, Rattus norvegicus
Y236FRDIYYRGQTS1Mus musculus

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