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

TRPC6 Gene

protein-coding   GIFtS: 64
GCID: GC11M101322

transient receptor potential cation channel, subfamily C,...
 Explore 32 diseases affiliated with
TRPC6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TRPC6    

Aliases
for TRPC6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transient Receptor Potential Cation Channel, Subfamily C, Member 61 2     FSGS22 5
TRP61 2 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


Summaries
for TRPC6 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
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 plasmid: TRPC6 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

Proteins
for TRPC6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylated by FYN, leading to an increase of TRPC6 channel activity (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y210

    • TRPC6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004612.2  
    ENSEMBL proteins: 
     ENSP00000340913   ENSP00000435574   ENSP00000343672   ENSP00000353687  
    Reactome Protein details: Q9Y210
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals TRPC6 Proteins
    Browse Sino Biological Recombinant Proteins
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    Uscn Proteins for TRPC6

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    TRPC6 for ontologies           About GeneDecksing



    TRPC6 Antibody Products: 
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    Uscn ELISAs and CLIAs for TRPC6

    Protein Domains /
    Families
    for TRPC6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TRPC6 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    Function
    for TRPC6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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)

    miRNA
    Products:            		 OriGene 3'-UTR Clone: TRPC6
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRPC6
    8/15 QIAGEN miScript miRNA 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 plasmid: TRPC6 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TRPC6 (see first 1)
    NM_013838 (mouse cat#: TF514996)  NM_013838 (mouse cat#: TR514996)  NM_013838 (mouse cat#: TG514996)  
    NM_053559 (rat cat#: TG711962)  NM_053559 (rat cat#: TF711962)  NM_053559 (rat cat#: TR711962)  
    OriGene siRNA: TRPC6
    QIAGEN FlexiTube/FlexiPlate 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 Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TRPC6 (see all 3)
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    Cell Line
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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005261cation channel activity ----
    GO:0005262calcium channel activity ----
    GO:0005515protein binding IPI15757897
    GO:0015279store-operated calcium channel activity IEA--


    TRPC6 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Trpc6tm1Lbi for TRPC6
         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


    Pathways & Interactions
    for TRPC6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by GPCR
    		Signaling by GPCR1.00
    		Signal Transduction0.56
    		GPCR downstream signaling0.89
    2Platelet activation, signaling and aggregation
    		Platelet activation, signaling and aggregation1.00
    		Hemostasis0.43
    3Role of second messengers in netrin-1 signaling
    		Role of second messengers in netrin-1 signaling1.00
    		Activation of TRPC channels by Netrin-10.60
    4G alpha (q) signalling events
    		G alpha (q) signalling events1.00
    		Gastrin-CREB signalling pathway via PKC and MAPK0.90
    5Platelet calcium homeostasis
    		Platelet calcium homeostasis1.00
    		Elevation of cytosolic Ca2+ levels0.47

    Pathway sources
    See GeneCards unified pathways
    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 
        Endothelins
    EPO signaling pathway
    Nephrin/Neph1 signaling in the kidney podocyte

    5/16        Reactome Pathways for TRPC6 (see all 16)
        Developmental Biology
    Platelet homeostasis
    Elevation of cytosolic Ca2+ levels
    Signal Transduction
    G alpha (q) signalling events



    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport TAS9930701
    GO:0007204elevation of cytosolic calcium ion concentration IEA--
    GO:0007411axon guidance TAS--
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--


    TRPC6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TRPC6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 Novoseek 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 

    Transcripts
    for TRPC6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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


    miRNA
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    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 plasmid: TRPC6 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

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

    Expression
    for TRPC6 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGAAGTGGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TRPC6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeAdipose
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
              Neuronal Ion Channels in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for TRPC6 gene

    (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 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 86(a)
    		 1 ↔ 1
    		 3(192753779-192785237)
    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 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 28(a)
    		 1 → many
    		 GroupUn.1268(2616-22451)
    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
    for TRPC6 gene

    (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


    Genomic Variants
    for TRPC6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/3083 NCBI SNPs in TRPC6 are shown (see all 3083)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1214343911,2
    		C,F,pathogenic136064605(-) GGCCAA/GTGAGC 2 N S mis11Minor allele frequency- G:0.00NA 4550
    rs729842061,2
    		C,--97256303(+) GCTGAC/TAGTGC 1 -- ds50010--------
    rs1178953431,2
    		C,F,--97256664(+) TCATCA/G/TCTTTT 2 -- ut311EA 120
    rs1166907271,2
    		C,--97256708(+) AGTAAC/AAACAA 1 -- ut311Minor allele frequency- A:0.01WA 118
    rs1426553351,2
    		C,--97256715(+) ACAACA/CACCTC 1 -- ut310--------
    rs1460337361,2
    		C,--97256783(+) ACATAC/TTGAAA 1 -- ut310--------
    rs1385589201,2
    		C,--97256793(+) AATAAC/GAGATA 1 -- ut310--------
    rs1129161711,2
    		C,--97257227(+) TATCAA/GTCATG 1 -- ut312Minor allele frequency- G:0.04CSA WA 120
    rs1493031181,2
    		C,--97257237(+) GTGCAC/TTGAGG 1 -- ut310--------
    rs1447141631,2
    		C,--97257420(+) AGTAAC/TGTGGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TRPC6 (101322295 - 101572295 bp, first 250kb of TRPC6)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for TRPC6
         3 CNVs: 85976 48678 101316
         7 Indels: 24601 75783 42501 44804 44805 85977 75784
    Human Gene Mutation Database (HGMD): TRPC6

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for TRPC6

    Disorders / Diseases
    for TRPC6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TRPC6 for disorders           About GeneDecksing

    OMIM gene information: 603652   
    OMIM disorders: 603965  
    UniProtKB/Swiss-Prot: TRPC6_HUMAN, Q9Y210
  • 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

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

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

    6 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: TRPC6 (7 documents)

    Export disorders for TRPC6 gene to outside databases

    Publications
    for TRPC6 gene

    (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 173):
    (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 is a glomerular slit diaphragm-associated channel required for normal renal function. (PubMed id 15924139)1, 2, 9 Reiser J.... Pollak M.R. (2005)
    3. 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)
    4. Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol. (PubMed id 9930701)1, 2, 9 Hofmann T....Schultz G. (1999)
    5. TRPC6 mutations in children with steroid-resistant ne phrotic syndrome and atypical phenotype. (PubMed id 21734084)1, 2 Gigante M....Gesualdo L. (2011)
    6. RNF24, a new TRPC interacting protein, causes the intracellular retention of TRPC. (PubMed id 17850865)1, 2 Lussier M.P.... Boulay G. (2008)
    7. MxA, a member of the dynamin superfamily, interacts with the ankyrin-like repeat domain of TRPC. (PubMed id 15757897)1, 2 Lussier M.P....Boulay G. (2005)
    8. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)1, 3 Clapham D.E....Schultz G. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. TRP4 (CCE1) protein is part of native calcium release-activated Ca2+- like channels in adrenal cells. (PubMed id 10816590)1, 2 Philipp S....Flockerzi V. (2000)

    External Searches for TRPC6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing TRPC6 gene

    (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

    Other Databases showing TRPC6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TRPC6 gene

    (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

    Intellectual Property
    for TRPC6 gene

    (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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