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

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

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

Identity

Other names	CMT2C
	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 DataPortal	ENSG00000111199
cBioPortal	TRPV4
AceView (NCBI)	TRPV4
Genatlas (Paris)	TRPV4
WikiGenes	59341
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)
Ensembl	TRPV4 - 12q24.11 [CytoView hg19] TRPV4 - 12q24.11 [CytoView hg38]
Mapping of homologs : NCBI	TRPV4 [Mapview hg19] TRPV4 [Mapview hg38]
OMIM	113500 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 : Unigene	Hs.506713 [ NCBI ]
CGAP (NCI)	Hs.506713
Alternative Splicing : Fast-db (Paris)	GSHG0007768
Alternative Splicing Gallery	ENSG00000111199
Gene Expression	TRPV4 [ NCBI-GEO ] TRPV4 [ SEEK ] TRPV4 [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q9HBA0 (Uniprot)
NextProt	Q9HBA0 [Medical]
With graphics : InterPro	Q9HBA0
Splice isoforms : SwissVar	Q9HBA0 (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 : CluSTr	Q9HBA0
Domain families : Pfam (Sanger)	Ank (PF00023) Ion_trans (PF00520)
Domain families : Pfam (NCBI)	pfam00023 pfam00520
Domain families : Smart (EMBL)	ANK (SM00248)
DMDM Disease mutations	59341
Blocks (Seattle)	Q9HBA0
PDB (SRS)	4DX1 4DX2
PDB (PDBSum)	4DX1 4DX2
PDB (IMB)	4DX1 4DX2
PDB (RSDB)	4DX1 4DX2
Human Protein Atlas	ENSG00000111199
Peptide Atlas	Q9HBA0
HPRD	05667
IPI	IPI00168624 IPI00168926 IPI00555678 IPI00657947 IPI00853621 IPI00658012 IPI01018955
	Protein Interaction databases
DIP (DOE-UCLA)	Q9HBA0
IntAct (EBI)	Q9HBA0
FunCoup	ENSG00000111199
BioGRID	TRPV4
IntegromeDB	TRPV4
STRING (EMBL)	TRPV4
	Ontologies - Pathways
QuickGO	Q9HBA0
Ontology : AmiGO	actin 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-EBI	actin 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 : BIOCARTA	Ion Channels and Their Functional Role in Vascular Endothelium [Genes]
Protein Interaction Database	TRPV4
DoCM (Curated mutations)	TRPV4
Wikipedia pathways	TRPV4
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	TRPV4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	TRPV4
dbVar	TRPV4
ClinVar	TRPV4
1000_Genomes	TRPV4
Exome Variant Server	TRPV4
SNP (GeneSNP Utah)	TRPV4
SNP : HGBase	TRPV4
Genetic variants : HAPMAP	TRPV4
Genomic Variants (DGV)	TRPV4 [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000111199
Somatic Mutations in Cancer : COSMIC	TRPV4
CONAN: Copy Number Analysis	TRPV4
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 : HGMD	TRPV4
OMIM	113500 156530 168400 181405 184095 184252 600175 605427 606071 606835 613508
Medgen	TRPV4
NextProt	Q9HBA0 [Medical]
GENETests	TRPV4
Disease Genetic Association	TRPV4
Huge Navigator	TRPV4 [HugePedia] TRPV4 [HugeCancerGEM]
snp3D : Map Gene to Disease	59341
DGIdb (Drug Gene Interaction db)	TRPV4
	General knowledge
Homologs : HomoloGene	TRPV4
Homology/Alignments : Family Browser (UCSC)	TRPV4
Phylogenetic Trees/Animal Genes : TreeFam	TRPV4
Chemical/Protein Interactions : CTD	59341
Chemical/Pharm GKB Gene	PA38293
Clinical trial	TRPV4
Cancer Resource (Charite)	ENSG00000111199
	Other databases
	Probes
	Litterature
PubMed	122 Pubmed reference(s) in Entrez
CoreMine	TRPV4
GoPubMed	TRPV4
iHOP	TRPV4

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Feb 14 19:11:39 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.