Human Gene TRPC6 (ENST00000344327.8_7) from GENCODE V47lift37
  Description: transient receptor potential cation channel subfamily C member 6 (from RefSeq NM_004621.6)
Gencode Transcript: ENST00000344327.8_7
Gencode Gene: ENSG00000137672.13_10
Transcript (Including UTRs)
   Position: hg19 chr11:101,322,295-101,454,738 Size: 132,444 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr11:101,323,686-101,454,234 Size: 130,549 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:101,322,295-101,454,738)mRNA (may differ from genome)Protein (931 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TRPC6_HUMAN
DESCRIPTION: RecName: Full=Short transient receptor potential channel 6; Short=TrpC6; AltName: Full=Transient receptor protein 6; Short=TRP-6;
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.
SUBUNIT: Interacts with MX1 and RNF24.
INTERACTION: P20591:MX1; NbExp=4; IntAct=EBI-929362, EBI-929476;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable).
TISSUE SPECIFICITY: Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm.
PTM: Phosphorylated by FYN, leading to an increase of TRPC6 channel activity (By similarity).
DISEASE: Defects in TRPC6 are the cause of focal segmental glomerulosclerosis type 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 edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
SIMILARITY: Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily.
SIMILARITY: Contains 4 ANK repeats.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TRPC6";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TRPC6
Diseases sorted by gene-association score: glomerulosclerosis, focal segmental, 2* (1300), focal segmental glomerulosclerosis* (169), glomerulosclerosis, focal segmental, 1* (124), hypothalamic neoplasm (16), hypertrophic pyloric stenosis (11), pyloric stenosis (11), familial nephrotic syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D002118 Calcium
  • C038237 1-oleoyl-2-acetylglycerol
  • C044295 1,2-dioctanoylglycerol
  • C063159 1-(2-(3-(4-methoxyphenyl)propoxy)-4-methoxyphenylethyl)-1H-imidazole
  • C520323 1-oleoyl-2-acetoyl-sn-glycerol
  • C446602 4-((3,4-(methylenedioxy)benzyl)amino)-6-methoxyquinazoline
  • C016276 8-bromocyclic GMP
  • D001564 Benzo(a)pyrene
  • D005439 Flufenamic Acid
  • C073601 KT 5823
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.99 RPKM in Lung
Total median expression: 59.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -221.30504-0.439 Picture PostScript Text
3' UTR -331.701391-0.238 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR005821 - Ion_trans_dom
IPR004729 - TRP_channel
IPR013555 - TRP_dom
IPR005462 - TRPC6_channel
IPR002153 - TRPC_channel

Pfam Domains:
PF00520 - Ion transport protein
PF08016 - Polycystin cation channel
PF08344 - Transient receptor ion channel II
PF12796 - Ankyrin repeats (3 copies)

SCOP Domains:
48371 - ARM repeat
140860 - Pseudo ankyrin repeat-like
109998 - Triger factor/SurA peptide-binding domain-like
48403 - Ankyrin repeat
81665 - Calcium ATPase, transmembrane domain M

ModBase Predicted Comparative 3D Structure on Q9Y210
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005216 ion channel activity
GO:0005261 cation channel activity
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0015279 store-operated calcium channel activity
GO:0030276 clathrin binding
GO:0042803 protein homodimerization activity
GO:0042805 actinin binding
GO:0051117 ATPase binding
GO:0070679 inositol 1,4,5 trisphosphate binding

Biological Process:
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0006828 manganese ion transport
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007338 single fertilization
GO:0007568 aging
GO:0010800 positive regulation of peptidyl-threonine phosphorylation
GO:0030168 platelet activation
GO:0030182 neuron differentiation
GO:0032414 positive regulation of ion transmembrane transporter activity
GO:0045666 positive regulation of neuron differentiation
GO:0050774 negative regulation of dendrite morphogenesis
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0051928 positive regulation of calcium ion transport
GO:0055085 transmembrane transport
GO:0070301 cellular response to hydrogen peroxide
GO:0070588 calcium ion transmembrane transport
GO:0071456 cellular response to hypoxia

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0036057 slit diaphragm


-  Descriptions from all associated GenBank mRNAs
  AJ006276 - Homo sapiens mRNA for transient receptor potential protein TRP6.
AF080394 - Homo sapiens transient receptor potential protein 6 mRNA, complete cds.
BC093658 - Homo sapiens transient receptor potential cation channel, subfamily C, member 6, mRNA (cDNA clone MGC:120693 IMAGE:7939503), complete cds.
BC093660 - Homo sapiens transient receptor potential cation channel, subfamily C, member 6, mRNA (cDNA clone MGC:120695 IMAGE:7939505), complete cds.
AJ271066 - Homo sapiens mRNA for transient receptor potential channel 6 (TRP6 gene).
AJ271067 - Homo sapiens mRNA for transient receptor potential channel 6, variant delta316-431 (TRP6 gene).
AJ271068 - Homo sapiens mRNA for transient receptor potential channel 6, variant delta377-431 (TRP6 gene).
AK001960 - Homo sapiens cDNA FLJ11098 fis, clone PLACE1005494, highly similar to Homo sapiens mRNA for transient receptor potential protein TRP6.
JD113882 - Sequence 94906 from Patent EP1572962.
JD469699 - Sequence 450723 from Patent EP1572962.
AK027769 - Homo sapiens cDNA FLJ14863 fis, clone PLACE1001771, highly similar to Short transient receptor potential channel 6.
AF086426 - Homo sapiens full length insert cDNA clone ZD79C11.
JD456289 - Sequence 437313 from Patent EP1572962.
JD316052 - Sequence 297076 from Patent EP1572962.
JD257987 - Sequence 239011 from Patent EP1572962.
JD196612 - Sequence 177636 from Patent EP1572962.
JD283912 - Sequence 264936 from Patent EP1572962.
JD063316 - Sequence 44340 from Patent EP1572962.
JD312849 - Sequence 293873 from Patent EP1572962.
JD308466 - Sequence 289490 from Patent EP1572962.
JD042119 - Sequence 23143 from Patent EP1572962.
JD236627 - Sequence 217651 from Patent EP1572962.
AJ007018 - Homo sapiens partial mRNA for putative capacitative calcium entry channel, (trp6 gene).
JD392996 - Sequence 374020 from Patent EP1572962.
JD319687 - Sequence 300711 from Patent EP1572962.
JD528650 - Sequence 509674 from Patent EP1572962.
JD408967 - Sequence 389991 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y210 (Reactome details) participates in the following event(s):

R-HSA-426209 DAG activation of TRPC channels
R-HSA-3295579 TRPs transport extracellular Ca2+ to cytosol
R-HSA-426223 Cation influx mediated by TRPC3/6/7
R-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-418890 Role of second messengers in netrin-1 signaling
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-416476 G alpha (q) signalling events
R-HSA-3295583 TRP channels
R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-373752 Netrin-1 signaling
R-HSA-109582 Hemostasis
R-HSA-388396 GPCR downstream signalling
R-HSA-2672351 Stimuli-sensing channels
R-HSA-418360 Platelet calcium homeostasis
R-HSA-422475 Axon guidance
R-HSA-372790 Signaling by GPCR
R-HSA-983712 Ion channel transport
R-HSA-418346 Platelet homeostasis
R-HSA-1266738 Developmental Biology
R-HSA-162582 Signal Transduction
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000344327.1, ENST00000344327.2, ENST00000344327.3, ENST00000344327.4, ENST00000344327.5, ENST00000344327.6, ENST00000344327.7, NM_004621, Q52M59, Q9HCW3, Q9NQA8, Q9NQA9, Q9Y210, TRP6 , TRPC6 , TRPC6_HUMAN, uc317wxh.1, uc317wxh.2
UCSC ID: ENST00000344327.8_7
RefSeq Accession: NM_004621.6
Protein: Q9Y210 (aka TRPC6_HUMAN or TRP6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.