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TRPC6 (transient receptor potential cation channel subfamily C member 6)

Identity

Alias_namesFSGS2
focal segmental glomerulosclerosis 2
transient receptor potential cation channel, subfamily C, member 6
Alias_symbol (synonym)TRP6
Other alias
HGNC (Hugo) TRPC6
LocusID (NCBI) 7225
Atlas_Id 50292
Location 11q22.1  [Link to chromosome band 11q22]
Location_base_pair Starts at 101322295 and ends at 101454659 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DNMT3A (2p23.3) / TRPC6 (11q22.1)PIK3C3 (18q12.3) / TRPC6 (11q22.1)TRPC6 (11q22.1) / HLA-B (6p21.33)
TRPC6 (11q22.1) / NUDCD1 (8q23.1)PIK3C3 18q12.3 / TRPC6 11q22.1

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)TRPC6   12338
Cards
Entrez_Gene (NCBI)TRPC6  7225  transient receptor potential cation channel subfamily C member 6
AliasesFSGS2; TRP6
GeneCards (Weizmann)TRPC6
Ensembl hg19 (Hinxton)ENSG00000137672 [Gene_View]  chr11:101322295-101454659 [Contig_View]  TRPC6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000137672 [Gene_View]  chr11:101322295-101454659 [Contig_View]  TRPC6 [Vega]
ICGC DataPortalENSG00000137672
TCGA cBioPortalTRPC6
AceView (NCBI)TRPC6
Genatlas (Paris)TRPC6
WikiGenes7225
SOURCE (Princeton)TRPC6
Genetics Home Reference (NIH)TRPC6
Genomic and cartography
GoldenPath hg19 (UCSC)TRPC6  -     chr11:101322295-101454659 -  11q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TRPC6  -     11q22.1   [Description]    (hg38-Dec_2013)
EnsemblTRPC6 - 11q22.1 [CytoView hg19]  TRPC6 - 11q22.1 [CytoView hg38]
Mapping of homologs : NCBITRPC6 [Mapview hg19]  TRPC6 [Mapview hg38]
OMIM603652   603965   
Gene and transcription
Genbank (Entrez)AF080394 AF086426 AJ006276 AJ007018 AJ271066
RefSeq transcript (Entrez)NM_004621
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_011476 NT_033899 NW_004929381
Consensus coding sequences : CCDS (NCBI)TRPC6
Cluster EST : UnigeneHs.159003 [ NCBI ]
CGAP (NCI)Hs.159003
Alternative Splicing GalleryENSG00000137672
Gene ExpressionTRPC6 [ NCBI-GEO ]   TRPC6 [ EBI - ARRAY_EXPRESS ]   TRPC6 [ SEEK ]   TRPC6 [ MEM ]
Gene Expression Viewer (FireBrowse)TRPC6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7225
GTEX Portal (Tissue expression)TRPC6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y210   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y210  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y210
Splice isoforms : SwissVarQ9Y210
PhosPhoSitePlusQ9Y210
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    TRP_dom    TRPC6_channel    TRPC_channel   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    Ion_trans (PF00520)    TRP_2 (PF08344)   
Domain families : Pfam (NCBI)pfam12796    pfam00520    pfam08344   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)TRPC6
DMDM Disease mutations7225
Blocks (Seattle)TRPC6
SuperfamilyQ9Y210
Human Protein AtlasENSG00000137672
Peptide AtlasQ9Y210
HPRD04710
IPIIPI00031683   IPI00220552   IPI00220553   IPI00976344   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y210
IntAct (EBI)Q9Y210
FunCoupENSG00000137672
BioGRIDTRPC6
STRING (EMBL)TRPC6
ZODIACTRPC6
Ontologies - Pathways
QuickGOQ9Y210
Ontology : AmiGOactin binding  calcium channel activity  protein binding  cytoplasm  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  manganese ion transport  positive regulation of cytosolic calcium ion concentration  single fertilization  aging  positive regulation of peptidyl-threonine phosphorylation  store-operated calcium channel activity  membrane  platelet activation  neuron differentiation  clathrin binding  positive regulation of ion transmembrane transporter activity  slit diaphragm  actinin binding  positive regulation of neuron differentiation  negative regulation of dendrite morphogenesis  ATPase binding  regulation of cytosolic calcium ion concentration  positive regulation of calcium ion transport  cellular response to hydrogen peroxide  calcium ion transmembrane transport  inositol 1,4,5 trisphosphate binding  cellular response to hypoxia  
Ontology : EGO-EBIactin binding  calcium channel activity  protein binding  cytoplasm  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  cation transport  manganese ion transport  positive regulation of cytosolic calcium ion concentration  single fertilization  aging  positive regulation of peptidyl-threonine phosphorylation  store-operated calcium channel activity  membrane  platelet activation  neuron differentiation  clathrin binding  positive regulation of ion transmembrane transporter activity  slit diaphragm  actinin binding  positive regulation of neuron differentiation  negative regulation of dendrite morphogenesis  ATPase binding  regulation of cytosolic calcium ion concentration  positive regulation of calcium ion transport  cellular response to hydrogen peroxide  calcium ion transmembrane transport  inositol 1,4,5 trisphosphate binding  cellular response to hypoxia  
NDEx NetworkTRPC6
Atlas of Cancer Signalling NetworkTRPC6
Wikipedia pathwaysTRPC6
Orthology - Evolution
OrthoDB7225
GeneTree (enSembl)ENSG00000137672
Phylogenetic Trees/Animal Genes : TreeFamTRPC6
HOVERGENQ9Y210
HOGENOMQ9Y210
Homologs : HomoloGeneTRPC6
Homology/Alignments : Family Browser (UCSC)TRPC6
Gene fusions - Rearrangements
Fusion : MitelmanDNMT3A/TRPC6 [2p23.3/11q22.1]  [t(2;11)(p23;q22)]  
Fusion : MitelmanPIK3C3/TRPC6 [18q12.3/11q22.1]  [t(11;18)(q22;q12)]  
Fusion: TCGAPIK3C3 18q12.3 TRPC6 11q22.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTRPC6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRPC6
dbVarTRPC6
ClinVarTRPC6
1000_GenomesTRPC6 
Exome Variant ServerTRPC6
ExAC (Exome Aggregation Consortium)TRPC6 (select the gene name)
Genetic variants : HAPMAP7225
Genomic Variants (DGV)TRPC6 [DGVbeta]
DECIPHER (Syndromes)11:101322295-101454659  ENSG00000137672
CONAN: Copy Number AnalysisTRPC6 
Mutations
ICGC Data PortalTRPC6 
TCGA Data PortalTRPC6 
Broad Tumor PortalTRPC6
OASIS PortalTRPC6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTRPC6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTRPC6
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 TRPC6
DgiDB (Drug Gene Interaction Database)TRPC6
DoCM (Curated mutations)TRPC6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TRPC6 (select a term)
intoGenTRPC6
Cancer3DTRPC6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603652    603965   
Orphanet12191   
MedgenTRPC6
Genetic Testing Registry TRPC6
NextProtQ9Y210 [Medical]
TSGene7225
GENETestsTRPC6
Huge Navigator TRPC6 [HugePedia]
snp3D : Map Gene to Disease7225
BioCentury BCIQTRPC6
ClinGenTRPC6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7225
Chemical/Pharm GKB GenePA37011
Clinical trialTRPC6
Miscellaneous
canSAR (ICR)TRPC6 (select the gene name)
Probes
Litterature
PubMed150 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTRPC6
EVEXTRPC6
GoPubMedTRPC6
iHOPTRPC6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:23:35 CEST 2017

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