Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TRPV4 (transient receptor potential cation channel subfamily V member 4)

Identity

Alias (NCBI)BCYM3
CMT2C
HMSN2C
OTRPC4
SMAL
SPSMA
SSQTL1
TRP12
VRL2
VROAC
HGNC (Hugo) TRPV4
HGNC Alias symbOTRPC4
TRP12
VROAC
VRL-2
VR-OAC
CMT2C
HGNC Alias nameosmosensitive transient receptor potential channel 4
HGNC Previous nametransient receptor potential cation channel, subfamily V, member 4
LocusID (NCBI) 59341
Atlas_Id 50819
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 109783087 and ends at 109814827 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TRPV4   18083
LRG (Locus Reference Genomic)LRG_372
Cards
Entrez_Gene (NCBI)TRPV4  59341  transient receptor potential cation channel subfamily V member 4
AliasesBCYM3; CMT2C; HMSN2C; OTRPC4; 
SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
GeneCards (Weizmann)TRPV4
Ensembl hg19 (Hinxton)ENSG00000111199 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111199 [Gene_View]  ENSG00000111199 [Sequence]  chr12:109783087-109814827 [Contig_View]  TRPV4 [Vega]
ICGC DataPortalENSG00000111199
TCGA cBioPortalTRPV4
AceView (NCBI)TRPV4
Genatlas (Paris)TRPV4
WikiGenes59341
SOURCE (Princeton)TRPV4
Genetics Home Reference (NIH)TRPV4
Genomic and cartography
GoldenPath hg38 (UCSC)TRPV4  -     chr12:109783087-109814827 -  12q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TRPV4  -     12q24.11   [Description]    (hg19-Feb_2009)
GoldenPathTRPV4 - 12q24.11 [CytoView hg19]  TRPV4 - 12q24.11 [CytoView hg38]
ImmunoBaseENSG00000111199
genome Data Viewer NCBITRPV4 [Mapview hg19]  
OMIM113500   156530   168400   181405   184095   184252   600175   605427   606071   606835   613508   617383   
Gene and transcription
Genbank (Entrez)AB032427 AB073669 AB100308 AF258465 AF263523
RefSeq transcript (Entrez)NM_001177428 NM_001177431 NM_001177433 NM_021625 NM_147204
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TRPV4
Alternative Splicing GalleryENSG00000111199
Gene ExpressionTRPV4 [ NCBI-GEO ]   TRPV4 [ EBI - ARRAY_EXPRESS ]   TRPV4 [ SEEK ]   TRPV4 [ MEM ]
Gene Expression Viewer (FireBrowse)TRPV4 [ Firebrowse - Broad ]
GenevisibleExpression of TRPV4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)59341
GTEX Portal (Tissue expression)TRPV4
Human Protein AtlasENSG00000111199-TRPV4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HBA0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HBA0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HBA0
Splice isoforms : SwissVarQ9HBA0
PhosPhoSitePlusQ9HBA0
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    Ion_trans_dom    TRPV    TRPV1-4_channel    TRPV4_channel   
Domain families : Pfam (Sanger)Ank (PF00023)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00023    pfam00520   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)TRPV4
DMDM Disease mutations59341
Blocks (Seattle)TRPV4
PDB (RSDB)4DX1    4DX2   
PDB Europe4DX1    4DX2   
PDB (PDBSum)4DX1    4DX2   
PDB (IMB)4DX1    4DX2   
Structural Biology KnowledgeBase4DX1    4DX2   
SCOP (Structural Classification of Proteins)4DX1    4DX2   
CATH (Classification of proteins structures)4DX1    4DX2   
SuperfamilyQ9HBA0
Human Protein Atlas [tissue]ENSG00000111199-TRPV4 [tissue]
Peptide AtlasQ9HBA0
HPRD05667
IPIIPI00168624   IPI00168926   IPI00555678   IPI00657947   IPI00853621   IPI00658012   IPI01018955   
Protein Interaction databases
DIP (DOE-UCLA)Q9HBA0
IntAct (EBI)Q9HBA0
FunCoupENSG00000111199
BioGRIDTRPV4
STRING (EMBL)TRPV4
ZODIACTRPV4
Ontologies - Pathways
QuickGOQ9HBA0
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  diet induced thermogenesis  actin binding  osmosensor activity  protein kinase C binding  ion channel activity  cation channel activity  calcium channel activity  calcium channel activity  protein binding  calmodulin binding  ATP binding  endoplasmic reticulum  cytoplasmic microtubule  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  adherens junction  focal adhesion  cilium  calcium ion transport  calcium ion transport  cellular calcium ion homeostasis  cell volume homeostasis  actin filament organization  actin filament organization  cell-cell junction assembly  positive regulation of cytosolic calcium ion concentration  osmosensory signaling pathway  osmosensory signaling pathway  osmosensory signaling pathway  microtubule binding  lipid binding  response to mechanical stimulus  cell surface  positive regulation of macrophage chemotaxis  negative regulation of neuron projection development  stretch-activated, cation-selective, calcium channel activity  integral component of membrane  apical plasma membrane  protein kinase binding  lamellipodium  vasopressin secretion  filopodium  growth cone  cortical actin cytoskeleton  positive regulation of microtubule depolymerization  cytoplasmic vesicle  actin cytoskeleton reorganization  ruffle membrane  response to insulin  cellular response to heat  SH2 domain binding  hyperosmotic salinity response  glucose homeostasis  identical protein binding  alpha-tubulin binding  positive regulation of vascular permeability  cortical microtubule organization  positive regulation of JNK cascade  microtubule polymerization  metal ion binding  regulation of response to osmotic stress  beta-tubulin binding  positive regulation of inflammatory response  multicellular organismal water homeostasis  actin filament binding  cartilage development involved in endochondral bone morphogenesis  positive regulation of ERK1 and ERK2 cascade  calcium ion import  calcium ion transmembrane transport  calcium ion transmembrane transport  cellular response to osmotic stress  cellular hypotonic response  cellular hypotonic response  cellular hypotonic salinity response  positive regulation of monocyte chemotactic protein-1 production  positive regulation of macrophage inflammatory protein 1 alpha production  positive regulation of chemokine (C-C motif) ligand 5 production  energy homeostasis  blood vessel endothelial cell delamination  calcium ion import across plasma membrane  calcium ion import into cytosol  negative regulation of brown fat cell differentiation  positive regulation of chemokine (C-X-C motif) ligand 1 production  positive regulation of interleukin-6 secretion  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  diet induced thermogenesis  actin binding  osmosensor activity  protein kinase C binding  ion channel activity  cation channel activity  calcium channel activity  calcium channel activity  protein binding  calmodulin binding  ATP binding  endoplasmic reticulum  cytoplasmic microtubule  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  adherens junction  focal adhesion  cilium  calcium ion transport  calcium ion transport  cellular calcium ion homeostasis  cell volume homeostasis  actin filament organization  actin filament organization  cell-cell junction assembly  positive regulation of cytosolic calcium ion concentration  osmosensory signaling pathway  osmosensory signaling pathway  osmosensory signaling pathway  microtubule binding  lipid binding  response to mechanical stimulus  cell surface  positive regulation of macrophage chemotaxis  negative regulation of neuron projection development  stretch-activated, cation-selective, calcium channel activity  integral component of membrane  apical plasma membrane  protein kinase binding  lamellipodium  vasopressin secretion  filopodium  growth cone  cortical actin cytoskeleton  positive regulation of microtubule depolymerization  cytoplasmic vesicle  actin cytoskeleton reorganization  ruffle membrane  response to insulin  cellular response to heat  SH2 domain binding  hyperosmotic salinity response  glucose homeostasis  identical protein binding  alpha-tubulin binding  positive regulation of vascular permeability  cortical microtubule organization  positive regulation of JNK cascade  microtubule polymerization  metal ion binding  regulation of response to osmotic stress  beta-tubulin binding  positive regulation of inflammatory response  multicellular organismal water homeostasis  actin filament binding  cartilage development involved in endochondral bone morphogenesis  positive regulation of ERK1 and ERK2 cascade  calcium ion import  calcium ion transmembrane transport  calcium ion transmembrane transport  cellular response to osmotic stress  cellular hypotonic response  cellular hypotonic response  cellular hypotonic salinity response  positive regulation of monocyte chemotactic protein-1 production  positive regulation of macrophage inflammatory protein 1 alpha production  positive regulation of chemokine (C-C motif) ligand 5 production  energy homeostasis  blood vessel endothelial cell delamination  calcium ion import across plasma membrane  calcium ion import into cytosol  negative regulation of brown fat cell differentiation  positive regulation of chemokine (C-X-C motif) ligand 1 production  positive regulation of interleukin-6 secretion  
NDEx NetworkTRPV4
Atlas of Cancer Signalling NetworkTRPV4
Wikipedia pathwaysTRPV4
Orthology - Evolution
OrthoDB59341
GeneTree (enSembl)ENSG00000111199
Phylogenetic Trees/Animal Genes : TreeFamTRPV4
HOGENOMQ9HBA0
Homologs : HomoloGeneTRPV4
Homology/Alignments : Family Browser (UCSC)TRPV4
Gene fusions - Rearrangements
Fusion : QuiverTRPV4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTRPV4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRPV4
dbVarTRPV4
ClinVarTRPV4
1000_GenomesTRPV4 
Exome Variant ServerTRPV4
GNOMAD BrowserENSG00000111199
Varsome BrowserTRPV4
Genetic variants : HAPMAP59341
Genomic Variants (DGV)TRPV4 [DGVbeta]
DECIPHERTRPV4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTRPV4 
Mutations
ICGC Data PortalTRPV4 
TCGA Data PortalTRPV4 
Broad Tumor PortalTRPV4
OASIS PortalTRPV4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTRPV4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTRPV4
Mutations and Diseases : HGMDTRPV4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TRPV4
DgiDB (Drug Gene Interaction Database)TRPV4
DoCM (Curated mutations)TRPV4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TRPV4 (select a term)
intoGenTRPV4
Cancer3DTRPV4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM113500    156530    168400    181405    184095    184252    600175    605427    606071    606835    613508    617383   
Orphanet546    1462    2421    20061    23238    12241    12251    11636    14510   
DisGeNETTRPV4
MedgenTRPV4
Genetic Testing Registry TRPV4
NextProtQ9HBA0 [Medical]
TSGene59341
GENETestsTRPV4
Target ValidationTRPV4
Huge Navigator TRPV4 [HugePedia]
snp3D : Map Gene to Disease59341
BioCentury BCIQTRPV4
ClinGenTRPV4
Clinical trials, drugs, therapy
Protein Interactions : CTD59341
Pharm GKB GenePA38293
Clinical trialTRPV4
Miscellaneous
canSAR (ICR)TRPV4 (select the gene name)
HarmonizomeTRPV4
DataMed IndexTRPV4
Probes
Litterature
PubMed216 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTRPV4
EVEXTRPV4
GoPubMedTRPV4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 16 15:40:49 CEST 2020
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