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TRPC6 Gene

protein-coding   GIFtS: 67
GCID: GC11M101322

Transient Receptor Potential Cation Channel, Subfamily C,...

(Previous name: focal segmental glomerulosclerosis 2)
(Previous symbol: FSGS2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transient Receptor Potential Cation Channel, Subfamily C, Member 61 2     Transient Receptor Protein 62 3
FSGS21 2 5     TRP-62 3
TRP62 3 5     Short Transient Receptor Potential Channel 62
Focal Segmental Glomerulosclerosis 21 2     TrpC63

External Ids:    HGNC: 123381   Entrez Gene: 72252   Ensembl: ENSG000001376727   OMIM: 6036525   UniProtKB: Q9Y2103   
ORGUL members:         

Export aliases for TRPC6 gene to outside databases

Previous GC identifers: GC11M103516 GC11M102679 GC11M101356 GC11M100860 GC11M100827 GC11M097256


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 diencephalic neoplasm, and focal segmental glomerulosclerosis 2. 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 TRPC4.

UniProtKB/Swiss-Prot: TRPC6_HUMAN, Q9Y210
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 Wiki entry for TRPC6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TRPC6 gene promoter:
         AhR   ISGF-3   AML1a   ATF-2   Arnt   CRE-BP1   CREB   deltaCREB   HOXA5   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRPC6 promoter sequence
   Search Chromatin IP Primers for TRPC6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRPC6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q22.1   Ensembl cytogenetic band:  11q22.1   HGNC cytogenetic band: 11q22.1

TRPC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPC6 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M101322:  view genomic region     (about GC identifiers)

Start:
101,322,295 bp from pter      End:
101,743,293 bp from pter
Size:
420,999 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TRPC6_HUMAN, Q9Y210 (See protein sequence)
Recommended Name: Short transient receptor potential channel 6  
Size: 931 amino acids; 106326 Da
Subunit: Interacts with MX1 and RNF24
Secondary accessions: Q52M59 Q9HCW3 Q9NQA8 Q9NQA9
Alternative splicing: 3 isoforms:  Q9Y210-1   Q9Y210-2   Q9Y210-3   

Explore the universe of human proteins at neXtProt for TRPC6: NX_Q9Y210

Explore proteomics data for TRPC6 at MOPED

Post-translational modifications: 

  • Phosphorylated by FYN, leading to an increase of TRPC6 channel activity (By similarity)1
  • Glycosylation2 at Asn473, Asn561
  • Modification sites at PhosphoSitePlus

  • See TRPC6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004612.2  
    ENSEMBL proteins: 
     ENSP00000340913   ENSP00000435574   ENSP00000343672   ENSP00000353687  
    Reactome Protein details: Q9Y210

    TRPC6 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TRPC6

    TRPC6 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TRPC6
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    OriGene Custom Antibody Services for TRPC6
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    TRPC6 Assay Products:

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    Cloud-Clone Corp. ELISAs for TRPC6
    Cloud-Clone Corp. CLIAs for TRPC6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TRP: Voltage-gated ion channels / Transient receptor potential cation channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPC6
    Transient Receptor Potential channels

    Selected InterPro protein domains (see all 7):
     IPR002153 TRPC_channel
     IPR005821 Ion_trans_dom
     IPR004729 TRP_channel
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y210

    ProtoNet protein and cluster: Q9Y210

    4 Blocks protein domains:
    IPB002110 Ankyrin repeat signature
    IPB002153 Transient receptor potential family signature
    IPB005462 Transient receptor potential channel 6 signature
    IPB013555 Transient receptor ion channel II


    UniProtKB/Swiss-Prot: TRPC6_HUMAN, Q9Y210
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily
    Similarity: Contains 4 ANK repeats


    TRPC6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRPC6_HUMAN, Q9Y210
    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

         Genatlas biochemistry entry for TRPC6:
    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)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005261cation channel activity ----
    GO:0005262calcium channel activity ----
    GO:0005488binding ----
    GO:0005515protein binding IPI15757897
         
    TRPC6 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Trpc6):
     behavior/neurological  cardiovascular system  integument  muscle  nervous system 
     vision/eye 

    TRPC6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Trpc6tm1Lbi for TRPC6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRPC6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TRPC6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPC6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPC6

    miRNA
    Products:
        
    miRTarBase miRNAs that target TRPC6:
    hsa-mir-124-3p (MIRT022827)

    Block miRNA regulation of human, mouse, rat TRPC6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TRPC6 (see all 15):
    hsa-miR-29c hsa-miR-29a hsa-miR-578 hsa-miR-218 hsa-miR-519e* hsa-miR-1297 hsa-miR-33a* hsa-miR-515-5p
    SwitchGear 3'UTR luciferase reporter plasmidTRPC6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TRPC6
    Predesigned siRNA for gene silencing in human, mouse, rat TRPC6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TRPC6

    Clone
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    OriGene ORF clones in mouse, rat for TRPC6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TRPC6 (NM_004621)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRPC6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPC6

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPC6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRPC6_HUMAN, Q9Y210: Membrane; Multi-pass membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    endoplasmic reticulum2
    extracellular2
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0036057slit diaphragm IEA--

    TRPC6 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TRPC6 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Platelet homeostasis
    Platelet homeostasis
    Platelet calcium homeostasis0.00
    Elevation of cytosolic Ca2+ levels0.00
    3Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    5Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TRPC6
        Intracellular Calcium Signaling

    3 BioSystems Pathways for TRPC6
        Endothelins
    Nephrin/Neph1 signaling in the kidney podocyte
    EPO signaling pathway

    4 Reactome Pathways for TRPC6
        TRP channels
    Effects of PIP2 hydrolysis
    Role of second messengers in netrin-1 signaling
    Elevation of cytosolic Ca2+ levels



    TRPC6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TRPC6: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TRPC6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TRPC6 (Q9Y2101, 3 ENSP000003409134) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MX1P205911, 3, ENSP000003815994EBI-929362,EBI-929476 I2D: score=3 STRING: ENSP00000381599
    FYNP062413, ENSP000003576564I2D: score=2 STRING: ENSP00000357656
    NPHS1O605003, ENSP000003681904I2D: score=1 STRING: ENSP00000368190
    NPHS2Q9NP853, ENSP000003565874I2D: score=1 STRING: ENSP00000356587
    ORAI1Q96D313, ENSP000003282164I2D: score=1 STRING: ENSP00000328216
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006812cation transport TAS9930701
    GO:0007204positive regulation of cytosolic calcium ion concentration IEA--
    GO:0007411axon guidance TAS--
    GO:0007568aging IEA--

    TRPC6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TRPC6

    Selected HMDB Compounds for TRPC6 (see all 844)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----

    Selected IUPHAR Ligands for TRPC6 (TRPC6) (see all 19)    About this table
    LigandTypeActionAffinityPubmed IDs
    La3+
    Channel blockerNone5.22--
    SKF96365
    Channel blockerNone5.22--
    20-HETE
    ActivatorNone5.22--
    ML9
    Channel blockerNone5.22--
    flufenamate
    ActivatorNone5.22--
    ACAA
    Channel blockerNone5.22--
    hyperforin
    ActivatorNone5.2217666455
    GsMTx-4
    Channel blockerNone5.22--
    arachidonic acid
    ActivatorNone5.22--
    KB-R7943
    Channel blockerNone5.22--

    10 Novoseek inferred chemical compound relationships for TRPC6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-aminoethoxydiphenylborane 90.6 2 20068131 (1), 17351372 (1)
    skf 96365 87 1 15362854 (1)
    1-oleoyl-2-acetyl-sn-glycerol 80.8 7 15601622 (2), 15362854 (1), 17351372 (1)
    flufenamic acid 63.8 9 19232718 (4), 14551041 (1)
    thapsigargin 61.6 4 12736151 (1), 18436303 (1)
    calcium 59.9 31 16204251 (4), 18800249 (4), 17459670 (2), 18506892 (2) (see all 16)
    inositol 1,4,5 trisphosphate 45.3 4 15104177 (1), 15601622 (1), 15104179 (1)
    phosphatidylinositol 29.5 3 15362854 (1), 19129465 (1)
    phenylephrine 9.54 1 14640978 (1)
    lipid 0 2 16270640 (1)



    TRPC6 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TRPC6 gene: 
    NM_004621.5  

    Unigene Cluster for TRPC6:

    Transient receptor potential cation channel, subfamily C, member 6
    Hs.159003  [show with all ESTs]
    Unigene Representative Sequence: NM_004621
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344327(uc001pgk.4 uc009ywy.3 uc009ywz.1) ENST00000532133
    ENST00000348423 ENST00000360497 ENST00000532184 ENST00000527240 ENST00000526713


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    Selected qRT-PCR Assays for microRNAs that regulate TRPC6 (see all 15):
    hsa-miR-29c hsa-miR-29a hsa-miR-578 hsa-miR-218 hsa-miR-519e* hsa-miR-1297 hsa-miR-33a* hsa-miR-515-5p
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    GenScript: all cDNA clones in your preferred vector: TRPC6 (NM_004621)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPC6
    Primer
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    OriGene qPCR primer pairs and template standards for TRPC6
    OriGene qSTAR qPCR primer pairs in human, mouse for TRPC6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TRPC6
      QuantiTect SYBR Green Assays in human, mouse, rat TRPC6
      QuantiFast Probe-based Assays in human, mouse, rat TRPC6

    Additional mRNA sequence: 

    AF080394.2 AF086426.1 AJ006276.1 AJ007018.1 AJ271066.1 AJ271067.1 AJ271068.1 AK001960.1 
    AK027769.1 BC093658.1 BC093660.1 

    2 DOTS entries:

    DT.65286058  DT.91757126 

    Selected AceView cDNA sequences (see all 27):

    AF080394 AI381238 AJ271066 BM724871 BI771648 CA312768 AJ271067 AU136989 
    AJ006276 AA633029 AJ007018 BI771244 AJ271068 BX098806 AF086426 BU741499 
    NM_004621 AK001960 AK027769 AI658667 BF001360 W79774 AU156966 W79110 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TRPC6    About this scheme

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


    ECgene alternative splicing isoforms for TRPC6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TRPC6 expression in normal human tissues (normalized intensities)      TRPC6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAGTGGTG
    TRPC6 Expression
    About this image


    TRPC6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Liver Bud
             Liver Lobule
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    TRPC6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRPC6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.159003

    UniProtKB/Swiss-Prot: TRPC6_HUMAN, Q9Y210
    Tissue specificity: Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in
    podocytes and is a component of the glomerular slit diaphragm

        Pathway & Disease-focused RT2 Profiler PCR Array including TRPC6: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TRPC6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trpc61 , 5 transient receptor potential cation channel, subfamily more1, 5 88.35(n)1
    93.66(a)1
      9 (2.46 cM)5
    220681  NM_013838.21  NP_038866.21 
     85441965 
    chicken
    (Gallus gallus)
    Aves TRPC61 transient receptor potential cation channel, subfamily more 81.1(n)
    88.48(a)
      418989  XM_003640588.2  XP_003640636.1 
    lizard
    (Anolis carolinensis)
    Reptilia TRPC66
    transient receptor potential cation channel, subfa...
    88(a)
    1 ↔ 1
    3(192700155-192785803)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia trpc61 transient receptor potential cation channel, subfamily more 77.17(n)
    85.2(a)
      100493327  XM_002935570.2  XP_002935616.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003330901 transient receptor potential cation channel, subfamily more 70.51(n)
    79.27(a)
      100333090  XM_002665399.2  XP_002665445.2 
    worm
    (Caenorhabditis elegans)
    Secernentea trp-11 , 3 Transient-receptor-potential (trp)
    protein3
    trp-11
    36(a)3
    51.81(n)1
    41.64(a)1
      III(8607645-8614376)3
    1762021  NM_001047424.21  NP_001040889.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TRPC6 gene
    TRPC42  TRPC12  TRPC72  TRPC52  TRPC32  
    6 SIMAP similar genes for TRPC6 using alignment to 2 protein entries:     TRPC6_HUMAN (see all proteins):
    TRPC3    TRPC7    TRP7    TRPC5    TRPC4    TRPC1

    TRPC6 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for TRPC6 (see all 11)
    PGOHUM00000242910 PGOHUM00000239435 PGOHUM00000245787 PGOHUM00000235165 PGOHUM00000235416


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TRPC6 (see all 3439)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214343911,2,,4
    C,FFocal segmental glomerulosclerosis 2 (FSGS2)4 pathogenic1101245345(-) GGCCAA/GTGAGC 2 N S mis11Minor allele frequency- G:0.00NA 4550
    VAR_0267344
    Focal segmental glomerulosclerosis 2 (FSGS2)4--see VAR_0267342 E K mis40--------
    VAR_0267304
    Focal segmental glomerulosclerosis 2 (FSGS2)4--see VAR_0267302 P Q mis40--------
    VAR_0267334
    Focal segmental glomerulosclerosis 2 (FSGS2)4--see VAR_0267332 R C mis40--------
    VAR_0672484
    Focal segmental glomerulosclerosis 2 (FSGS2)4--see VAR_0672482 H L mis40--------
    VAR_0267324
    Focal segmental glomerulosclerosis 2 (FSGS2)4--see VAR_0267322 S T mis40--------
    rs357139491,2
    C--97277762(+) TTATG-/AAAAAA 1 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs755881381,2
    C--97286306(+) ACTTT-/AATCAG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1995303881,2
    C--97286306(+) ACTTTA/TATCAG 1 -- int10--------
    rs1465473471,2
    C--97289391(+) TGCTA-/TGTGTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for TRPC6 (101322295 - 101572295 bp, first 250kb of TRPC6)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TRPC6 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671069CNV Deletion23128226
    esv3066CNV Deletion18987735
    esv2104024CNV Deletion18987734
    esv1005678CNV Deletion20482838
    esv2744985CNV Deletion23290073
    esv1637667CNV Deletion17803354
    esv2664051CNV Deletion23128226
    esv2037840CNV Deletion18987734
    esv2666466CNV Deletion23128226
    esv2586580CNV Deletion19546169

    Human Gene Mutation Database (HGMD): TRPC6
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603652   
    OMIM disorders: 603965  
    UniProtKB/Swiss-Prot: TRPC6_HUMAN, Q9Y210
  • 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for TRPC6 (see all 34):    About MalaCards
    diencephalic neoplasm    focal segmental glomerulosclerosis 2    focal segmental glomerulosclerosis    malignant hypertension
    hypertrophic pyloric stenosis    pyloric stenosis    membranous glomerulonephritis    steroid-resistant nephrotic syndrome
    hepatopulmonary syndrome    precocious puberty    proteinuria    premature ovarian failure
    gigantism    nephrotic syndrome    glomerulonephritis    hypertension
    essential hypertension    atopic dermatitis    gingivitis    dermatitis

    4 diseases from the University of Copenhagen DISEASES database for TRPC6:
    Focal segmental glomerulosclerosis     Diencephalic neoplasm     Nephrotic syndrome     Prostate cancer

    TRPC6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for TRPC6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glomerulosclerosis, focal segmental 77.5 10 19124028 (2), 19458060 (2), 16290061 (2), 19129465 (1) (see all 6)
    glomerulosclerosis 48.8 1 17459670 (1)
    proteinuria 38.2 2 17167110 (1)
    hypertrophy 28.1 1 17099778 (1)
    renal disease 24.6 1 17167110 (1)
    renal failure 11.9 1 17167110 (1)

    Genetic Association Database (GAD): TRPC6
    Human Genome Epidemiology (HuGE) Navigator: TRPC6 (7 documents)

    Export disorders for TRPC6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TRPC6 gene, integrated from 10 sources (see all 190):
    (articles sorted by number of sources associating them with TRPC6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. (PubMed id 15879175)1, 2, 3, 9 Winn M.P....Rosenberg P.B. (Science 2005)
    2. Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21-22. (PubMed id 9925922)1, 2, 3 D'Esposito M.... Ciccodicola A. (Cytogenet. Cell Genet. 1998)
    3. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. (PubMed id 19458060)1, 4, 9 SantA-n S....de los RA-os F.J. (Nephrol. Dial. Transplant. 2009)
    4. N-linked protein glycosylation is a major determinant for basal TRPC3 and TRPC6 channel activity. (PubMed id 12970363)1, 2, 9 Dietrich A....Gudermann T. (J. Biol. Chem. 2003)
    5. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. (PubMed id 15924139)1, 2, 9 Reiser J.... Pollak M.R. (Nat. Genet. 2005)
    6. Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol. (PubMed id 9930701)1, 2, 9 Hofmann T....Schultz G. (Nature 1999)
    7. TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype. (PubMed id 21734084)1, 2 Gigante M.... Gesualdo L. (Clin. J. Am. Soc. Nephrol. 2011)
    8. Lack of association between transient receptor potential cation channel 6 polymorphisms and primary membranous glomerulonephritis. (PubMed id 20540633)1, 4 Chen W.C....Chen Y.H. (Ren Fail 2010)
    9. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)
    10. A functional single-nucleotide polymorphism in the TRPC6 gene promoter associated with idiopathic pulmonary arterial hypertension. (PubMed id 19380626)1, 4 Yu Y....Yuan J.X. (Circulation 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7225 HGNC: 12338 AceView: TRPC6 Ensembl:ENSG00000137672 euGenes: HUgn7225
    ECgene: TRPC6 H-InvDB: TRPC6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TRPC6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TRPC6[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TRPC6 gene:
    Search GeneIP for patents involving TRPC6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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