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Aliases for TRPC6 Gene

Aliases for TRPC6 Gene

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

External Ids for TRPC6 Gene

Previous Symbols for TRPC6 Gene

  • FSGS2

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 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis. Among its related pathways are Signaling by GPCR and L1CAM interactions. GO annotations related to this gene include store-operated calcium channel activity and inositol 1,4,5 trisphosphate binding. An important paralog of this gene is TRPC5.

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

Genomic Location for TRPC6 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TRPC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPC6 Gene

Regulatory Elements 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

Proteomics data for TRPC6 Gene at MOPED

Post-translational modifications for TRPC6 Gene

  • Phosphorylated by FYN, leading to an increase of TRPC6 channel activity.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn473 and Asn561

Other Protein References for TRPC6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TRPC6 Gene

Domains for TRPC6 Gene

Gene Families for TRPC6 Gene

HGNC:
  • TRP :Voltage-gated ion channels / Transient receptor potential cation channels
IUPHAR :

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
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily.:
    • Q9Y210
Similarity:
  • Contains 4 ANK repeats.:
    • Q9Y210
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:0005216 ion channel activity --
GO:0005261 cation channel activity --
GO:0005262 calcium channel activity --
GO:0005488 binding --
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

Animal Models for TRPC6 Gene

MGI Knock Outs for TRPC6:

miRNA for TRPC6 Gene

miRTarBase miRNAs that target TRPC6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for TRPC6 Gene COMPARTMENTS Subcellular localization image for TRPC6 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 2
extracellular 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 --
genes like me logo Genes that share ontologies with TRPC6: view

Pathways 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:0006811 ion transport --
GO:0006812 cation transport TAS 9930701
GO:0006828 manganese ion transport IBA --
GO:0007204 positive regulation of cytosolic calcium ion concentration IEA --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with TRPC6: view

Compounds for TRPC6 Gene

(844) HMDB Compounds for TRPC6 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available
DG(14:0/16:0/0:0)
  • DAG(30:0)
Not Available

(19) IUPHAR Ligand for TRPC6 Gene

Ligand Type Action Affinity Pubmed IDs
H+ (extracellular) Activator None 5.4
La3+ Channel blocker None
SKF96365 Channel blocker None
20-HETE Activator None
ML9 Channel blocker None
flufenamate Activator None
ACAA Channel blocker None
hyperforin Activator None
GsMTx-4 Channel blocker None
arachidonic acid Activator Potentiation
KB-R7943 Channel blocker None
OAG Activator Agonist
lysophosphatidylcholine Activator None
2,4 diahexanxoylphloroglucinol Activator None
SAG Activator Agonist
Gd3+ Channel blocker None
amiloride Channel blocker None
2-APB Channel blocker None
SLG Activator Agonist

(10) Novoseek inferred chemical compound relationships for TRPC6 Gene

Compound -log(P) Hits PubMed IDs
2-aminoethoxydiphenylborane 90.6 2
skf 96365 87 1
1-oleoyl-2-acetyl-sn-glycerol 80.8 4
flufenamic acid 63.8 5
thapsigargin 61.6 2
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:

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 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 (7.8), Lung (6.0), and Esophagus - Gastroesophageal Junction (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TRPC6 Gene

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 expressions with TRPC6: view

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 35
  • 99.61 (n)
  • 99.57 (a)
TRPC6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TRPC6 35
  • 91.82 (n)
  • 95.37 (a)
TRPC6 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPC6 35
  • 91.12 (n)
  • 94.09 (a)
TRPC6 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trpc6 35
  • 88.35 (n)
  • 93.66 (a)
Trpc6 16
Trpc6 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRPC6 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPC6 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpc6 35
  • 88.82 (n)
  • 93.98 (a)
chicken
(Gallus gallus)
Aves TRPC6 35
  • 81.1 (n)
  • 88.48 (a)
TRPC6 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRPC6 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpc6 35
  • 77.17 (n)
  • 85.2 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100333090 35
  • 70.51 (n)
  • 79.27 (a)
trpc6a 36
  • 74 (a)
OneToMany
trpc6b 36
  • 77 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea trp-1 35
  • 51.81 (n)
  • 41.64 (a)
trp-1 37
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for TRPC6:
  • 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

Selected 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 MAF
rs2368263 -- 101,570,398(-) gaatt(A/T)ttttg intron-variant
rs2950037 -- 101,570,417(+) AGATG(G/T)ATTCA intron-variant
rs2973387 -- 101,570,271(-) TCTTC(C/T)AGATT intron-variant
rs3802829 -- 101,583,461(+) CCGGG(A/G)AGAAC reference, missense
rs3824934 -- 101,583,757(+) ACCCC(C/G)CGAGG utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv898330 CNV Gain 21882294
nsv468851 CNV Gain 19166990
esv2104024 CNV Deletion 18987734
esv2671069 CNV Deletion 23128226
nsv468852 CNV Gain 19166990
nsv519281 CNV Gain 19592680
esv2586580 CNV Deletion 19546169
esv2037840 CNV Deletion 18987734
esv3066 CNV Deletion 18987735
esv2744985 CNV Deletion 23290073
esv1005678 CNV Deletion 20482838
esv1637667 CNV Deletion 17803354
esv2664051 CNV Deletion 23128226
esv1440726 CNV Insertion 17803354
nsv898331 CNV Gain 21882294
nsv507611 CNV Insertion 20534489
esv2666466 CNV Deletion 23128226

Relevant External Links for TRPC6 Gene

HapMap Linkage Disequilibrium report
TRPC6
Human Gene Mutation Database (HGMD)
TRPC6

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

Disorders for TRPC6 Gene

(1) OMIM Diseases for TRPC6 Gene (603652)

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.

(6) Novoseek inferred disease relationships for TRPC6 Gene

Disease -log(P) Hits PubMed IDs
glomerulosclerosis, focal segmental 77.5 9
glomerulosclerosis 48.8 1
proteinuria 38.2 1
hypertrophy 28.1 1
renal disease 24.6 1

Relevant External Links for TRPC6

Genetic Association Database (GAD)
TRPC6
Human Genome Epidemiology (HuGE) Navigator
TRPC6
genes like me logo Genes that share disorders with TRPC6: view

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 23
  2. 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 23
  3. 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 23
  4. Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol. (PMID: 9930701) Hofmann T. … Schultz G. (Nature 1999) 3 4 23
  5. 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 23 48

Products for TRPC6 Gene

Sources for TRPC6 Gene

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