Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TRPC6 Gene

Aliases for TRPC6 Gene

  • Transient Receptor Potential Cation Channel Subfamily C Member 6 2 3 5
  • Focal Segmental Glomerulosclerosis 2 2 3
  • Transient Receptor Protein 6 3 4
  • TRP-6 3 4
  • TRP6 3 4
  • Transient Receptor Potential Cation Channel, Subfamily C, Member 6 2
  • Short Transient Receptor Potential Channel 6 3
  • FSGS2 3
  • TrpC6 4

External Ids for TRPC6 Gene

Previous HGNC Symbols for TRPC6 Gene

  • FSGS2

Previous GeneCards Identifiers for TRPC6 Gene

  • GC11M103516
  • GC11M102679
  • GC11M100860
  • GC11M100827
  • GC11M097256
  • GC11M101322

Summaries for TRPC6 Gene

Entrez Gene Summary for TRPC6 Gene

  • The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]

GeneCards Summary for TRPC6 Gene

TRPC6 (Transient Receptor Potential Cation Channel Subfamily C Member 6) is a Protein Coding gene. Diseases associated with TRPC6 include Glomerulosclerosis, Focal Segmental, 2 and Focal Segmental Glomerulosclerosis. Among its related pathways are Signaling by GPCR and Ion channel transport. GO annotations related to this gene include binding and calcium channel activity. An important paralog of this gene is TRPC3.

UniProtKB/Swiss-Prot for TRPC6 Gene

  • Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C. Seems not to be activated by intracellular calcium store depletion.

Gene Wiki entry for TRPC6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPC6 Gene

Genomics for TRPC6 Gene

Regulatory Elements for TRPC6 Gene

Enhancers for TRPC6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F102010 1.4 FANTOM5 Ensembl ENCODE 10.9 -138.9 -138922 2.8 PKNOX1 KLF17 ARID4B SIN3A RAD21 BRCA1 RCOR1 KLF7 FOS SMARCC1 TRPC6 CEP126 ANGPTL5 GC11P102001 C11orf70
GH11F102006 1.2 Ensembl ENCODE 11.3 -134.9 -134895 1.8 ELF3 PKNOX1 ARID4B RAD21 RARA RFX5 SLC30A9 CREM MIXL1 THAP11 TRPC6 ANGPTL5 GC11P102001 C11orf70
GH11F101911 1.1 ENCODE 10.9 -41.7 -41692 5.0 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF263 SP3 TRPC6 ANGPTL5 CEP126
GH11F101553 0.9 Ensembl ENCODE 5.1 +318.1 318072 2.2 USF2 MAX TBX21 RAD51 CBX5 IKZF1 MAFK SPI1 TRPC6 LOC100127938 MIR3920
GH11F101909 0.4 ENCODE 10.9 -37.3 -37316 0.0 ZNF664 TRPC6 CEP126
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRPC6 on UCSC Golden Path with GeneCards custom track

Genomic Location for TRPC6 Gene

Chromosome:
11
Start:
101,451,564 bp from pter
End:
101,872,562 bp from pter
Size:
420,999 bases
Orientation:
Minus strand

Genomic View for TRPC6 Gene

Genes around TRPC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPC6 Gene

Proteins for TRPC6 Gene

  • Protein details for TRPC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y210-TRPC6_HUMAN
    Recommended name:
    Short transient receptor potential channel 6
    Protein Accession:
    Q9Y210
    Secondary Accessions:
    • Q52M59
    • Q9HCW3
    • Q9NQA8
    • Q9NQA9

    Protein attributes for TRPC6 Gene

    Size:
    931 amino acids
    Molecular mass:
    106326 Da
    Quaternary structure:
    • Interacts with MX1 and RNF24.

    Alternative splice isoforms for TRPC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPC6 Gene

Post-translational modifications for TRPC6 Gene

  • Phosphorylated by FYN, leading to an increase of TRPC6 channel activity.
  • Glycosylation at Asn 473 and Asn 561
  • Modification sites at PhosphoSitePlus

Other Protein References for TRPC6 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TRPC6 (TRPC6)
  • Abcam antibodies for TRPC6
  • Cloud-Clone Corp. Antibodies for TRPC6

No data available for DME Specific Peptides for TRPC6 Gene

Domains & Families for TRPC6 Gene

Gene Families for TRPC6 Gene

Suggested Antigen Peptide Sequences for TRPC6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y210

UniProtKB/Swiss-Prot:

TRPC6_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily.
  • Contains 4 ANK repeats.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily.
Similarity:
  • Contains 4 ANK repeats.
genes like me logo Genes that share domains with TRPC6: view

Function for TRPC6 Gene

Molecular function for TRPC6 Gene

GENATLAS Biochemistry:
transient receptor potential non voltage channel 6,Drosophila store-operated channel (SOC),predominantly expressed in the lung,involved in CA2+ entry stimulated by a G protein coupled receptor from extracellular space by a process called calcium capacitative entry (CCE)
UniProtKB/Swiss-Prot Function:
Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C. Seems not to be activated by intracellular calcium store depletion.

Gene Ontology (GO) - Molecular Function for TRPC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005216 ion channel activity IEA --
GO:0005261 cation channel activity IEA --
GO:0005262 calcium channel activity TAS --
GO:0005515 protein binding IPI 15757897
genes like me logo Genes that share ontologies with TRPC6: view
genes like me logo Genes that share phenotypes with TRPC6: view

Human Phenotype Ontology for TRPC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRPC6 Gene

MGI Knock Outs for TRPC6:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRPC6

miRNA for TRPC6 Gene

miRTarBase miRNAs that target TRPC6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRPC6 Gene

Localization for TRPC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPC6 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPC6 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for TRPC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23171048
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IDA 23171048
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TRPC6: view

Pathways & Interactions for TRPC6 Gene

genes like me logo Genes that share pathways with TRPC6: view

Pathways by source for TRPC6 Gene

Gene Ontology (GO) - Biological Process for TRPC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport TAS 9930701
GO:0006816 calcium ion transport IEA --
GO:0006828 manganese ion transport IBA --
genes like me logo Genes that share ontologies with TRPC6: view

No data available for SIGNOR curated interactions for TRPC6 Gene

Drugs & Compounds for TRPC6 Gene

(23) Drugs for TRPC6 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker 51
arachidonic acid Experimental Nutra Activator 28
2,4 diahexanxoylphloroglucinol Pharma Activator 0
20-HETE Pharma Activator Vasoconstrictor in renal and cerebral vasculature 0
2-APB Pharma Antagonist, Pore Blocker IP3 receptor antagonist. Also TRP channel modulator 0

(11) Additional Compounds for TRPC6 Gene - From: IUPHAR, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
H<sup>+</sup> (extracellular)
Activator
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with TRPC6: view

Transcripts for TRPC6 Gene

Unigene Clusters for TRPC6 Gene

Transient receptor potential cation channel, subfamily C, member 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRPC6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: - -
SP2: - - - -
SP3: - -
SP4:

Relevant External Links for TRPC6 Gene

GeneLoc Exon Structure for
TRPC6
ECgene alternative splicing isoforms for
TRPC6

Expression for TRPC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRPC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPC6 Gene

This gene is overexpressed in Esophagus - Muscularis (x7.8), Lung (x6.0), and Esophagus - Gastroesophageal Junction (x4.3).

Protein differential expression in normal tissues from HIPED for TRPC6 Gene

This gene is overexpressed in Breast (34.4), Peripheral blood mononuclear cells (21.1), and Platelet (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TRPC6 Gene



Protein tissue co-expression partners for TRPC6 Gene

NURSA nuclear receptor signaling pathways regulating expression of TRPC6 Gene:

TRPC6

SOURCE GeneReport for Unigene cluster for TRPC6 Gene:

Hs.159003

mRNA Expression by UniProt/SwissProt for TRPC6 Gene:

Q9Y210-TRPC6_HUMAN
Tissue specificity: Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm.
genes like me logo Genes that share expression patterns with TRPC6: view

Primer Products

Orthologs for TRPC6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRPC6 34 35
  • 99.61 (n)
oppossum
(Monodelphis domestica)
Mammalia TRPC6 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TRPC6 34 35
  • 91.82 (n)
dog
(Canis familiaris)
Mammalia TRPC6 34 35
  • 91.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRPC6 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpc6 34
  • 88.82 (n)
mouse
(Mus musculus)
Mammalia Trpc6 34 16 35
  • 88.35 (n)
chicken
(Gallus gallus)
Aves TRPC6 34 35
  • 81.1 (n)
lizard
(Anolis carolinensis)
Reptilia TRPC6 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpc6 34
  • 77.17 (n)
zebrafish
(Danio rerio)
Actinopterygii trpc6b 35
  • 77 (a)
OneToMany
trpc6a 35
  • 74 (a)
OneToMany
LOC100333090 34
  • 70.51 (n)
worm
(Caenorhabditis elegans)
Secernentea trp-1 36 34
  • 51.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToMany
Species where no ortholog for TRPC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRPC6 Gene

ENSEMBL:
Gene Tree for TRPC6 (if available)
TreeFam:
Gene Tree for TRPC6 (if available)

Paralogs for TRPC6 Gene

Paralogs for TRPC6 Gene

(6) SIMAP similar genes for TRPC6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TRPC6: view

Variants for TRPC6 Gene

Sequence variations from dbSNP and Humsavar for TRPC6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121434390 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965], Pathogenic 101,504,634(-) CATCC(A/C)AGTGG nc-transcript-variant, reference, missense
rs121434391 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965], Pathogenic 101,504,541(-) GGCCA(A/G)TGAGC nc-transcript-variant, reference, missense
rs121434392 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965], Pathogenic 101,504,161(-) GCCAC(A/T)CCAGA nc-transcript-variant, reference, missense
rs121434394 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965], Pathogenic 101,453,068(-) GTCTC(C/T)GCTAT nc-transcript-variant, reference, missense
rs121434395 Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965], Pathogenic 101,453,062(-) GCTAT(A/G)AACTC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TRPC6 Gene

Variant ID Type Subtype PubMed ID
nsv983058 CNV duplication 23825009
nsv958619 CNV deletion 24416366
nsv556132 CNV gain 21841781
nsv556131 CNV gain 21841781
nsv519281 CNV gain 19592680
nsv507611 OTHER sequence alteration 20534489
nsv468852 CNV gain 19166990
nsv468851 CNV gain 19166990
nsv1144588 CNV deletion 24896259
nsv1134168 CNV deletion 24896259
nsv1133170 CNV tandem duplication 24896259
nsv1052159 CNV gain 25217958
esv3627515 CNV loss 21293372
esv3627513 CNV gain 21293372
esv3627511 CNV loss 21293372
esv3580061 CNV gain 25503493
esv3580050 CNV gain 25503493
esv3548252 CNV deletion 23714750
esv3548250 CNV deletion 23714750
esv3255607 CNV deletion 24192839
esv3066 CNV loss 18987735
esv2762940 CNV loss 21179565
esv2761703 CNV gain 21179565
esv2744985 CNV deletion 23290073
esv2671069 CNV deletion 23128226
esv2666466 CNV deletion 23128226
esv2664051 CNV deletion 23128226
esv2586580 CNV deletion 19546169
esv2104024 CNV deletion 18987734
esv2037840 CNV deletion 18987734
esv1637667 CNV deletion 17803354
esv1440726 CNV insertion 17803354
esv1005678 CNV deletion 20482838
dgv708n106 CNV deletion 24896259
dgv410e212 CNV loss 25503493
dgv2133n54 CNV gain 21841781
dgv2132n54 CNV gain 21841781

Variation tolerance for TRPC6 Gene

Residual Variation Intolerance Score: 4.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.75; 73.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRPC6 Gene

Human Gene Mutation Database (HGMD)
TRPC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPC6 Gene

Disorders for TRPC6 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TRPC6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glomerulosclerosis, focal segmental, 2
  • focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis
  • opitz-kaveggia syndrome
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
glomerulosclerosis
hypothalamic neoplasm
  • neoplasm of the hypothalamus
- elite association - COSMIC cancer census association via MalaCards
Search TRPC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRPC6_HUMAN
  • Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269 PubMed:15879175, ECO:0000269 PubMed:15924139, ECO:0000269 PubMed:21734084}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRPC6

Genetic Association Database (GAD)
TRPC6
Human Genome Epidemiology (HuGE) Navigator
TRPC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPC6
genes like me logo Genes that share disorders with TRPC6: view

No data available for Genatlas for TRPC6 Gene

Publications for TRPC6 Gene

  1. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. (PMID: 15879175) Winn M.P. … Rosenberg P.B. (Science 2005) 2 3 4 22 64
  2. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. (PMID: 19458060) SantA-n S. … de los RA-os F.J. (Nephrol. Dial. Transplant. 2009) 3 22 46 64
  3. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. (PMID: 15924139) Reiser J. … Pollak M.R. (Nat. Genet. 2005) 3 4 22 64
  4. N-linked protein glycosylation is a major determinant for basal TRPC3 and TRPC6 channel activity. (PMID: 12970363) Dietrich A. … Gudermann T. (J. Biol. Chem. 2003) 3 4 22 64
  5. Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol. (PMID: 9930701) Hofmann T. … Schultz G. (Nature 1999) 3 4 22 64

Products for TRPC6 Gene