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

Identity

Alias (NCBI)FSGS2
TRP6
HGNC (Hugo) TRPC6
HGNC Alias symbTRP6
HGNC Previous nameFSGS2
HGNC Previous namefocal segmental glomerulosclerosis 2
 transient receptor potential cation channel, subfamily C, member 6
LocusID (NCBI) 7225
Atlas_Id 50292
Location 11q22.1  [Link to chromosome band 11q22]
Location_base_pair Starts at 101451564 and ends at 101584007 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)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(8;11)(q23;q22) TRPC6/NUDCD1


External links

 

Nomenclature
HGNC (Hugo)TRPC6   12338
Cards
Entrez_Gene (NCBI)TRPC6    transient receptor potential cation channel subfamily C member 6
AliasesFSGS2; TRP6
GeneCards (Weizmann)TRPC6
Ensembl hg19 (Hinxton)ENSG00000137672 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137672 [Gene_View]  ENSG00000137672 [Sequence]  chr11:101451564-101584007 [Contig_View]  TRPC6 [Vega]
ICGC DataPortalENSG00000137672
TCGA cBioPortalTRPC6
AceView (NCBI)TRPC6
Genatlas (Paris)TRPC6
SOURCE (Princeton)TRPC6
Genetics Home Reference (NIH)TRPC6
Genomic and cartography
GoldenPath hg38 (UCSC)TRPC6  -     chr11:101451564-101584007 -  11q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TRPC6  -     11q22.1   [Description]    (hg19-Feb_2009)
GoldenPathTRPC6 - 11q22.1 [CytoView hg19]  TRPC6 - 11q22.1 [CytoView hg38]
ImmunoBaseENSG00000137672
Genome Data Viewer NCBITRPC6 [Mapview hg19]  
OMIM603652   603965   
Gene and transcription
Genbank (Entrez)AF080394 AF086426 AJ006276 AJ007018 AJ271066
RefSeq transcript (Entrez)NM_004621
Consensus coding sequences : CCDS (NCBI)TRPC6
Gene ExpressionTRPC6 [ NCBI-GEO ]   TRPC6 [ EBI - ARRAY_EXPRESS ]   TRPC6 [ SEEK ]   TRPC6 [ MEM ]
Gene Expression Viewer (FireBrowse)TRPC6 [ Firebrowse - Broad ]
GenevisibleExpression of TRPC6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7225
GTEX Portal (Tissue expression)TRPC6
Human Protein AtlasENSG00000137672-TRPC6 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9Y210
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    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
PDB (RSDB)5YX9    6UZ8    6UZA    7A6U   
PDB Europe5YX9    6UZ8    6UZA    7A6U   
PDB (PDBSum)5YX9    6UZ8    6UZA    7A6U   
PDB (IMB)5YX9    6UZ8    6UZA    7A6U   
Structural Biology KnowledgeBase5YX9    6UZ8    6UZA    7A6U   
SCOP (Structural Classification of Proteins)5YX9    6UZ8    6UZA    7A6U   
CATH (Classification of proteins structures)5YX9    6UZ8    6UZA    7A6U   
SuperfamilyQ9Y210
AlphaFold pdb e-kbQ9Y210   
Human Protein Atlas [tissue]ENSG00000137672-TRPC6 [tissue]
HPRD04710
Protein Interaction databases
DIP (DOE-UCLA)Q9Y210
IntAct (EBI)Q9Y210
BioGRIDTRPC6
STRING (EMBL)TRPC6
ZODIACTRPC6
Ontologies - Pathways
QuickGOQ9Y210
Ontology : AmiGOactin binding  cation channel activity  protein binding  cytoplasm  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  cation channel complex  slit diaphragm  protein homodimerization activity  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  calcium ion transmembrane transport  inositol 1,4,5 trisphosphate binding  inositol 1,4,5 trisphosphate binding  cellular response to hypoxia  
Ontology : EGO-EBIactin binding  cation channel activity  protein binding  cytoplasm  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  cation channel complex  slit diaphragm  protein homodimerization activity  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  calcium ion transmembrane transport  inositol 1,4,5 trisphosphate binding  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
Homologs : HomoloGeneTRPC6
Homology/Alignments : Family Browser (UCSC)TRPC6
Gene fusions - Rearrangements
Fusion : MitelmanDNMT3A/TRPC6 [2p23.3/11q22.1]  
Fusion : MitelmanPIK3C3/TRPC6 [18q12.3/11q22.1]  
Fusion : QuiverTRPC6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTRPC6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRPC6
dbVarTRPC6
ClinVarTRPC6
MonarchTRPC6
1000_GenomesTRPC6 
Exome Variant ServerTRPC6
GNOMAD BrowserENSG00000137672
Varsome BrowserTRPC6
ACMGTRPC6 variants
VarityQ9Y210
Genomic Variants (DGV)TRPC6 [DGVbeta]
DECIPHERTRPC6 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTRPC6
Mutations and Diseases : HGMDTRPC6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTRPC6
DgiDB (Drug Gene Interaction Database)TRPC6
DoCM (Curated mutations)TRPC6
CIViC (Clinical Interpretations of Variants in Cancer)TRPC6
Cancer3DTRPC6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603652    603965   
Orphanet12191   
DisGeNETTRPC6
MedgenTRPC6
Genetic Testing Registry TRPC6
NextProtQ9Y210 [Medical]
GENETestsTRPC6
Target ValidationTRPC6
Huge Navigator TRPC6 [HugePedia]
ClinGenTRPC6
Clinical trials, drugs, therapy
MyCancerGenomeTRPC6
Protein Interactions : CTDTRPC6
Pharm GKB GenePA37011
PharosQ9Y210
Clinical trialTRPC6
Miscellaneous
canSAR (ICR)TRPC6
HarmonizomeTRPC6
DataMed IndexTRPC6
Probes
Litterature
PubMed206 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTRPC6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:36:31 CEST 2021

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