mutLBSgeneDB |
Gene summary for TRPV4 |
Gene summary |
Basic gene Info. | Gene symbol | TRPV4 |
Gene name | transient receptor potential cation channel, subfamily V, member 4 | |
Synonyms | CMT2C|HMSN2C|OTRPC4|SMAL|SPSMA|SSQTL1|TRP12|VRL2|VROAC | |
Cytomap | UCSC genome browser: 12q24.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001177428.1, NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2, | |
Description | OSM9-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 date | 20141222 | |
dbXrefs | MIM : 605427 | |
HGNC : HGNC | ||
Ensembl : ENSG00000111199 | ||
HPRD : 05667 | ||
Vega : OTTHUMG00000169277 | ||
Protein | UniProt: Q9HBA0 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_TRPV4 | |
BioGPS: 59341 | ||
Pathway | NCI Pathway Interaction Database: TRPV4 | |
KEGG: TRPV4 | ||
REACTOME: TRPV4 | ||
Pathway Commons: TRPV4 | ||
Context | iHOP: TRPV4 | |
ligand binding site mutation search in PubMed: TRPV4 | ||
UCL Cancer Institute: TRPV4 | ||
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:0006816 | calcium ion transport | 18458941 | GO:0006874 | cellular calcium ion homeostasis | 12724311 | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 18458941 |
Top |
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 |
LBS | AAchange of nsSNV | Cancer type | # samples | Y236 | Y235C | KIRC | 1 | R248 | R248H | 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. |
Top |
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. |
LBS | AAchange of nsSNV | Relative stability change | R248 | R248H | -1.3384881 | Y236 | Y235C | -1.2770008 |
(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 |
Top |
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) |
Top |
Top |
Phenotype information for TRPV4 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0265281 | Metatropic dwarfism | 8 | Biomarker, GeneticVariation |
umls:C0265280 | Spondylometaphyseal dysplasia, Kozlowski type | 5 | Biomarker, GeneticVariation |
umls:C0026847 | Muscular Atrophy, Spinal | 5 | Biomarker |
umls:C0432227 | Brachyolmia Type 3 | 4 | Biomarker, GeneticVariation |
umls:C0024117 | Pulmonary Disease, Chronic Obstructive | 4 | Biomarker, GeneticVariation |
umls:C0007959 | Charcot-Marie-Tooth Disease | 4 | Biomarker |
umls:C1868616 | Parastremmatic dwarfism | 3 | Biomarker, GeneticVariation |
umls:C0751335 | SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL | 3 | Biomarker, GeneticVariation |
umls:C0020429 | Hyperalgesia | 3 | Biomarker |
umls:C1853710 | Hereditary Motor And Sensory Neuropathy, Type IIC | 2 | Biomarker, GeneticVariation |
umls:C0005940 | Bone Diseases | 2 | Biomarker |
umls:C2079540 | Charcot-Marie-Tooth disease, Type 2C | 2 | Biomarker, GeneticVariation |
umls:C3159322 | Brachyolmia Type 2 | 1 | Biomarker, GeneticVariation |
umls:C0020625 | Hyponatremia | 1 | Biomarker, GeneticVariation |
umls:C0029408 | Osteoarthritis | 1 | Biomarker |
umls:C0029422 | Osteochondrodysplasias | 1 | Biomarker |
umls:C0042035 | Urination Disorders | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
Top |
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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of TRPV4 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ATP | ATP | 4dx2 | A | Y236 R248 |
Top |
Conservation information for LBS of TRPV4 |
Multiple alignments for Q9HBA0 in multiple species |
LBS | AA sequence | # species | Species | E337 | ADNTRENTKFV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K192 | EPSTGKTCLPK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K197 | KTCLPKALLNL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L200 | LPKALLNLSNG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N201 | PKALLNLSNGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q239 | IYYRGQTALHI | 2 | Homo sapiens, Rattus norvegicus | Q239 | IYYRGQTSLHI | 1 | Mus musculus | R248 | HIAIERRCKHY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R336 | IADNTRENTKF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T335 | AIADNTRENTK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y236 | FRDIYYRGQTA | 2 | Homo sapiens, Rattus norvegicus | Y236 | FRDIYYRGQTS | 1 | Mus musculus |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |