Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

Identity

Other namesCMT2C
HMSN2C
OTRPC4
SMAL
SPSMA
SSQTL1
TRP12
VRL2
VROAC
HGNC (Hugo) TRPV4
LocusID (NCBI) 59341
Location 12q24.11
Location_base_pair Starts at 110220892 and ends at 110252632 bp from pter ( according to hg19-Feb_2009)
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
Cards
Entrez_Gene (NCBI)TRPV4  59341  transient receptor potential cation channel, subfamily V, member 4
GeneCards (Weizmann)TRPV4
Ensembl hg19 (Hinxton)ENSG00000111199 [Gene_View]  chr12:110220892-110252632 [Contig_View]  TRPV4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000111199 [Gene_View]  chr12:110220892-110252632 [Contig_View]  TRPV4 [Vega]
ICGC DataPortalENSG00000111199
cBioPortalTRPV4
AceView (NCBI)TRPV4
Genatlas (Paris)TRPV4
WikiGenes59341
SOURCE (Princeton)TRPV4
Genomic and cartography
GoldenPath hg19 (UCSC)TRPV4  -     chr12:110220892-110252632 -  12q24.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TRPV4  -     12q24.11   [Description]    (hg38-Dec_2013)
EnsemblTRPV4 - 12q24.11 [CytoView hg19]  TRPV4 - 12q24.11 [CytoView hg38]
Mapping of homologs : NCBITRPV4 [Mapview hg19]  TRPV4 [Mapview hg38]
OMIM113500   156530   168400   181405   184095   184252   600175   605427   606071   606835   613508   
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)AC_000144 NC_000012 NC_018923 NG_017090 NT_029419 NW_001838062 NW_004929385
Consensus coding sequences : CCDS (NCBI)TRPV4
Cluster EST : UnigeneHs.506713 [ NCBI ]
CGAP (NCI)Hs.506713
Alternative Splicing : Fast-db (Paris)GSHG0007768
Alternative Splicing GalleryENSG00000111199
Gene ExpressionTRPV4 [ NCBI-GEO ]     TRPV4 [ SEEK ]   TRPV4 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HBA0 (Uniprot)
NextProtQ9HBA0  [Medical]
With graphics : InterProQ9HBA0
Splice isoforms : SwissVarQ9HBA0 (Swissvar)
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ion_trans_dom    TRP_channel    TRPV1-4_channel    TRPV4_channel   
Related proteins : CluSTrQ9HBA0
Domain families : Pfam (Sanger)Ank (PF00023)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00023    pfam00520   
Domain families : Smart (EMBL)ANK (SM00248)  
DMDM Disease mutations59341
Blocks (Seattle)Q9HBA0
PDB (SRS)4DX1    4DX2   
PDB (PDBSum)4DX1    4DX2   
PDB (IMB)4DX1    4DX2   
PDB (RSDB)4DX1    4DX2   
Human Protein AtlasENSG00000111199
Peptide AtlasQ9HBA0
HPRD05667
IPIIPI00168624   IPI00168926   IPI00555678   IPI00657947   IPI00853621   IPI00658012   IPI01018955   
Protein Interaction databases
DIP (DOE-UCLA)Q9HBA0
IntAct (EBI)Q9HBA0
FunCoupENSG00000111199
BioGRIDTRPV4
IntegromeDBTRPV4
STRING (EMBL)TRPV4
Ontologies - Pathways
QuickGOQ9HBA0
Ontology : AmiGOactin binding  osmosensor activity  protein kinase C binding  cation channel activity  calcium channel activity  calmodulin binding  ATP binding  cytoplasmic microtubule  plasma membrane  plasma membrane  plasma membrane  adherens junction  focal adhesion  cilium  calcium ion transport  calcium ion transport  cellular calcium ion homeostasis  cell volume homeostasis  actin filament organization  cell-cell junction assembly  positive regulation of cytosolic calcium ion concentration  osmosensory signaling pathway  osmosensory signaling pathway  microtubule binding  cell death  response to mechanical stimulus  cell surface  negative regulation of neuron projection development  integral component of 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  ion transmembrane transport  cellular response to heat  SH2 domain binding  hyperosmotic salinity response  alpha-tubulin binding  cortical microtubule organization  microtubule polymerization  regulation of response to osmotic stress  beta-tubulin binding  actin filament binding  transmembrane transport  calcium ion import  calcium ion transmembrane transport  cellular response to osmotic stress  cellular hypotonic response  
Ontology : EGO-EBIactin binding  osmosensor activity  protein kinase C binding  cation channel activity  calcium channel activity  calmodulin binding  ATP binding  cytoplasmic microtubule  plasma membrane  plasma membrane  plasma membrane  adherens junction  focal adhesion  cilium  calcium ion transport  calcium ion transport  cellular calcium ion homeostasis  cell volume homeostasis  actin filament organization  cell-cell junction assembly  positive regulation of cytosolic calcium ion concentration  osmosensory signaling pathway  osmosensory signaling pathway  microtubule binding  cell death  response to mechanical stimulus  cell surface  negative regulation of neuron projection development  integral component of 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  ion transmembrane transport  cellular response to heat  SH2 domain binding  hyperosmotic salinity response  alpha-tubulin binding  cortical microtubule organization  microtubule polymerization  regulation of response to osmotic stress  beta-tubulin binding  actin filament binding  transmembrane transport  calcium ion import  calcium ion transmembrane transport  cellular response to osmotic stress  cellular hypotonic response  
Pathways : BIOCARTAIon Channels and Their Functional Role in Vascular Endothelium [Genes]   
Protein Interaction DatabaseTRPV4
DoCM (Curated mutations)TRPV4
Wikipedia pathwaysTRPV4
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTRPV4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRPV4
dbVarTRPV4
ClinVarTRPV4
1000_GenomesTRPV4 
Exome Variant ServerTRPV4
SNP (GeneSNP Utah)TRPV4
SNP : HGBaseTRPV4
Genetic variants : HAPMAPTRPV4
Genomic VariantsTRPV4  TRPV4 [DGVbeta]
Mutations
ICGC Data PortalENSG00000111199 
Somatic Mutations in Cancer : COSMICTRPV4 
CONAN: Copy Number AnalysisTRPV4 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:110220892-110252632
Mutations and Diseases : HGMDTRPV4
OMIM113500    156530    168400    181405    184095    184252    600175    605427    606071    606835    613508   
MedgenTRPV4
NextProtQ9HBA0 [Medical]
GENETestsTRPV4
Disease Genetic AssociationTRPV4
Huge Navigator TRPV4 [HugePedia]  TRPV4 [HugeCancerGEM]
snp3D : Map Gene to Disease59341
DGIdb (Drug Gene Interaction db)TRPV4
General knowledge
Homologs : HomoloGeneTRPV4
Homology/Alignments : Family Browser (UCSC)TRPV4
Phylogenetic Trees/Animal Genes : TreeFamTRPV4
Chemical/Protein Interactions : CTD59341
Chemical/Pharm GKB GenePA38293
Clinical trialTRPV4
Cancer Resource (Charite)ENSG00000111199
Other databases
Probes
Litterature
PubMed122 Pubmed reference(s) in Entrez
CoreMineTRPV4
GoPubMedTRPV4
iHOPTRPV4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:06:11 CET 2014
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