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TRPV5 (transient receptor potential cation channel subfamily V member 5)

Identity

Alias_namesECAC1
epithelial calcium channel 1
transient receptor potential cation channel, subfamily V, member 5
Alias_symbol (synonym)CaT2
Other aliasCAT2
OTRPC3
HGNC (Hugo) TRPV5
LocusID (NCBI) 56302
Atlas_Id 51022
Location 7q34  [Link to chromosome band 7q34]
Location_base_pair Starts at 142908101 and ends at 142933723 bp from pter ( according to hg38-Dec_2013)

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)TRPV5   3145
Cards
Entrez_Gene (NCBI)TRPV5  56302  transient receptor potential cation channel subfamily V member 5
AliasesCAT2; ECAC1; OTRPC3
GeneCards (Weizmann)TRPV5
Ensembl hg19 (Hinxton)ENSG00000127412 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127412 [Gene_View]  chr7:142908101-142933723 [Contig_View]  TRPV5 [Vega]
ICGC DataPortalENSG00000127412
TCGA cBioPortalTRPV5
AceView (NCBI)TRPV5
Genatlas (Paris)TRPV5
WikiGenes56302
SOURCE (Princeton)TRPV5
Genetics Home Reference (NIH)TRPV5
Genomic and cartography
GoldenPath hg38 (UCSC)TRPV5  -     chr7:142908101-142933723 -  7q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TRPV5  -     7q34   [Description]    (hg19-Feb_2009)
EnsemblTRPV5 - 7q34 [CytoView hg19]  TRPV5 - 7q34 [CytoView hg38]
Mapping of homologs : NCBITRPV5 [Mapview hg19]  TRPV5 [Mapview hg38]
OMIM606679   
Gene and transcription
Genbank (Entrez)AF304464 AJ271207 AJ487965 BC034740
RefSeq transcript (Entrez)NM_019841
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_046912 NT_187562
Consensus coding sequences : CCDS (NCBI)TRPV5
Cluster EST : UnigeneHs.283369 [ NCBI ]
CGAP (NCI)Hs.283369
Alternative Splicing GalleryENSG00000127412
Gene ExpressionTRPV5 [ NCBI-GEO ]   TRPV5 [ EBI - ARRAY_EXPRESS ]   TRPV5 [ SEEK ]   TRPV5 [ MEM ]
Gene Expression Viewer (FireBrowse)TRPV5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56302
GTEX Portal (Tissue expression)TRPV5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQA5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQA5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQA5
Splice isoforms : SwissVarQ9NQA5
PhosPhoSitePlusQ9NQA5
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    TRPV    TRPV5    TRPV5/TRPV6   
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)    Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00023    pfam12796    pfam00520   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)TRPV5
DMDM Disease mutations56302
Blocks (Seattle)TRPV5
SuperfamilyQ9NQA5
Human Protein AtlasENSG00000127412
Peptide AtlasQ9NQA5
HPRD05981
IPIIPI00302133   IPI00925667   IPI00925021   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQA5
IntAct (EBI)Q9NQA5
FunCoupENSG00000127412
BioGRIDTRPV5
STRING (EMBL)TRPV5
ZODIACTRPV5
Ontologies - Pathways
QuickGOQ9NQA5
Ontology : AmiGOcalcium channel activity  calcium channel activity  calcium channel activity  protein binding  calmodulin binding  plasma membrane  integral component of plasma membrane  calcium ion transport  calcium ion transport  apical plasma membrane  regulation of urine volume  metal ion binding  protein tetramerization  calcium ion homeostasis  calcium ion transmembrane transport  calcium ion transmembrane transport  calcium ion import across plasma membrane  
Ontology : EGO-EBIcalcium channel activity  calcium channel activity  calcium channel activity  protein binding  calmodulin binding  plasma membrane  integral component of plasma membrane  calcium ion transport  calcium ion transport  apical plasma membrane  regulation of urine volume  metal ion binding  protein tetramerization  calcium ion homeostasis  calcium ion transmembrane transport  calcium ion transmembrane transport  calcium ion import across plasma membrane  
Pathways : KEGGEndocrine and other factor-regulated calcium reabsorption   
NDEx NetworkTRPV5
Atlas of Cancer Signalling NetworkTRPV5
Wikipedia pathwaysTRPV5
Orthology - Evolution
OrthoDB56302
GeneTree (enSembl)ENSG00000127412
Phylogenetic Trees/Animal Genes : TreeFamTRPV5
HOVERGENQ9NQA5
HOGENOMQ9NQA5
Homologs : HomoloGeneTRPV5
Homology/Alignments : Family Browser (UCSC)TRPV5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTRPV5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRPV5
dbVarTRPV5
ClinVarTRPV5
1000_GenomesTRPV5 
Exome Variant ServerTRPV5
ExAC (Exome Aggregation Consortium)TRPV5 (select the gene name)
Genetic variants : HAPMAP56302
Genomic Variants (DGV)TRPV5 [DGVbeta]
DECIPHERTRPV5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTRPV5 
Mutations
ICGC Data PortalTRPV5 
TCGA Data PortalTRPV5 
Broad Tumor PortalTRPV5
OASIS PortalTRPV5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTRPV5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTRPV5
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 TRPV5
DgiDB (Drug Gene Interaction Database)TRPV5
DoCM (Curated mutations)TRPV5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TRPV5 (select a term)
intoGenTRPV5
Cancer3DTRPV5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606679   
Orphanet
MedgenTRPV5
Genetic Testing Registry TRPV5
NextProtQ9NQA5 [Medical]
TSGene56302
GENETestsTRPV5
Target ValidationTRPV5
Huge Navigator TRPV5 [HugePedia]
snp3D : Map Gene to Disease56302
BioCentury BCIQTRPV5
ClinGenTRPV5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56302
Chemical/Pharm GKB GenePA35045
Clinical trialTRPV5
Miscellaneous
canSAR (ICR)TRPV5 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTRPV5
EVEXTRPV5
GoPubMedTRPV5
iHOPTRPV5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:17:49 CEST 2017

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