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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TRPC6 Gene

protein-coding   GIFtS: 65
GCID: GC11M101322

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

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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)
About This Section

Aliases
Transient Receptor Potential Cation Channel, Subfamily C, Member 61 2     FSGS22 5
TRP62 3 5     Short Transient Receptor Potential Channel 62
Transient Receptor Protein 62 3     TrpC63
TRP-62 3     

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

Export aliases for TRPC6 gene to outside databases

Previous GC identifers: GC11M103516 GC11M102679 GC11M101356 GC11M100860 GC11M100827 GC11M097256


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Signaling by GPCR and Gastrin-CREB signalling pathway via PKC and MAPK. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TRPC6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
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:

  • UniProtKB: Phosphorylated by FYN, leading to an increase of TRPC6 channel activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y210

  • TRPC6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TRPC6 Protein Expression
    REFSEQ proteins: NP_004612.2  
    ENSEMBL proteins: 
     ENSP00000340913   ENSP00000435574   ENSP00000343672   ENSP00000353687  
    Reactome Protein details: Q9Y210
    Human Recombinant Protein Products for TRPC6: 
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    Novus Biologicals TRPC6 Proteins
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TRPC6 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    TRPC6 for ontologies           About GeneDecksing



    TRPC6 Antibody 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)
    About This Section
    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

    5/7 InterPro protein domains (see all 7):
     IPR002153 TRPC_channel
     IPR020683 Ankyrin_rpt-contain_dom
     IPR005821 Ion_trans_dom
     IPR004729 TRP_channel
     IPR002110 Ankyrin_rpt

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for TRPC6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    SwitchGear 3'UTR luciferase reporter plasmidTRPC6 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPC6


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TRPC6 About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    2G alpha (q) signalling events
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    3Axon guidance
    Axon guidance0.69
    Developmental Biology0.69
    4Platelet calcium homeostasis
    Platelet calcium homeostasis0.53
    Elevation of cytosolic Ca2+ levels0.47
    5Platelet activation, signaling and aggregation
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for TRPC6
        Sodium channels and transporters- inward current
    Calcium channels

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

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

    5/15        Reactome Pathways for TRPC6 (see all 15)
        GPCR downstream signaling
    Hemostasis
    Developmental Biology
    Gastrin-CREB signalling pathway via PKC and MAPK
    Platelet homeostasis



    TRPC6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TRPC6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/21 Interacting proteins for TRPC6 (Q9Y2101, 3 ENSP000003409134) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006812cation transport TAS9930701
    GO:0007204elevation of cytosolic calcium ion concentration IEA--
    GO:0007411axon guidance TAS--
    GO:0007596blood coagulation TAS--

    TRPC6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TRPC6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TRPC6

    10/844 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)----

    10/19 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)

    Search CenterWatch for drugs/clinical trials and news about TRPC6

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/27 AceView cDNA sequences (see all 27):

    AJ271066 BI771648 BM724871 AF080394 AI381238 NM_004621 BU741499 AJ271067 
    AI658667 AK001960 AU136989 BI771244 AJ006276 AJ007018 BX098806 AF086426 
    AA633029 AK027769 CA312768 AJ271068 BF001360 W79110 W79774 BF106229 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/2 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 (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow

    See TRPC6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRPC6

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TRPC6 gene from 5/12 species (see all 12)    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 81.14(n)
    88.89(a)
      418989  XM_003640588.1  XP_003640636.1 
    lizard
    (Anolis carolinensis)
    Reptilia TRPC66
    transient receptor potential cation channel, subfa...
    88(a)
    1 ↔ 1
    3(192700155-192785803)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003330901 transient receptor potential cation channel, subfamily more 70.88(n)
    80.05(a)
      100333090  XM_002665399.1  XP_002665445.1 
    worm
    (Caenorhabditis elegans)
    Secernentea trp-11 , 3 Transient-receptor-potential (trp)
    protein3
    Protein TRP-11
    36(a)3
    51.52(n)1
    41.42(a)1
      III(8607645-8614376)3
    1762021  NM_001047424.11  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)
    About This Section
    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    TRPC4    TRPC5    TRPC1

    TRPC6 for paralogs           About GeneDecksing


    5/11 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3439 SNPs in TRPC6 are shown (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
    ----------
    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--------
    rs1214343911,2,4
    C,FFocal segmental glomerulosclerosis 2 (FSGS2)4 pathogenic1101245345(-) GGCCAA/GTGAGC 2 N S mis11Minor allele frequency- G:0.00NA 4550
    VAR_0672474
    ----see VAR_0672472 N S mis40--------
    VAR_0672494
    ----see VAR_0672492 R L 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

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 20/32 diseases for TRPC6 (see all 32):    About MalaCards
    diencephalic neoplasm    focal segmental glomerulosclerosis 2    focal segmental glomerulosclerosis    malignant hypertension
    pyloric stenosis    hypertrophic pyloric stenosis    membranous glomerulonephritis    proteinuria
    hepatopulmonary syndrome    precocious puberty    premature ovarian failure    gigantism
    nephrotic syndrome    glomerulonephritis    hypertension    essential hypertension
    gingivitis    atopic dermatitis    cystic fibrosis    kidney disease

    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)
    About This Section

    PubMed articles for TRPC6 gene, integrated from 9 sources (see all 182):
    (articles sorted by number of sources associating them with TRPC6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (1998)
    2. TRPC6 mutational analysis in a large cohort of patien ts with focal segmental glomerulosclerosis. (PubMed id 19458060)1, 4, 9 SantA-n S....Torra R. (2009)
    3. 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. (2003)
    4. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. (PubMed id 15924139)1, 2, 9 Reiser J.... Pollak M.R. (2005)
    5. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. (PubMed id 15879175)1, 2, 9 Winn M.P....Rosenberg P.B. (2005)
    6. Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol. (PubMed id 9930701)1, 2, 9 Hofmann T....Schultz G. (1999)
    7. TRPC6 mutations in children with steroid-resistant ne phrotic syndrome and atypical phenotype. (PubMed id 21734084)1, 2 Gigante M....Gesualdo L. (2011)
    8. Lack of association between transient receptor potent ial cation channel 6 polymorphisms and primary membranous glomerulonephritis. (PubMed id 20540633)1, 4 Chen W.C....Chen Y.H. (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. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7225 HGNC: 12338 AceView: TRPC6 Ensembl:ENSG00000137672 euGenes: HUgn7225
    ECgene: TRPC6 H-InvDB: TRPC6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TRPC6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TRPC6

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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