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

TRPC4 Gene

protein-coding   GIFtS: 62
GCID: GC13M038210

transient receptor potential cation channel, subfamily C,...

 Explore 13 diseases affiliated with
TRPC4 via our new
 Human Malady Compendium 
Biological research products
for TRPC4
    

(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 41 2     Short Transient Receptor Potential Channel 42
TRP41 2 5     TrpC43
HTRP41 2     HTrp-41
Trp-Related Protein 42 3     HTrp41
HTRP-42     

External Ids:    HGNC: 123361   Entrez Gene: 72232   Ensembl: ENSG000001331077   OMIM: 6036515   UniProtKB: Q9UBN43   

Export aliases for TRPC4 gene to outside databases

Previous GC identifers: GC13M036197 GC13M032197 GC13M037147 GC13M036008 GC13M037108 GC13M019010


(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 TRPC4:
This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded
protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine
kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter
release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized
epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been
observed for this gene. (provided by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: TRPC4_HUMAN, Q9UBN4
Function: Form a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell
contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger
system activated by receptor tyrosine kinases or G-protein coupled receptors. Mediates cation entry, with an enhanced
permeability to barium over calcium. May also be activated by intracellular calcium store depletion

Gene Wiki entry for TRPC4


(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_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TRPC4 gene promoter:
         HOXA9B   HOXA9   Egr-3   Egr-1   FOXD1   HSF1 (long)   CREB   deltaCREB   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRPC4 promoter sequence
   Search SABiosciences Chromatin IP Primers for TRPC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRPC4


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

Entrez Gene cytogenetic band: 13q13.3   Ensembl cytogenetic band:  13q13.3   HGNC cytogenetic band: 13q13.3

TRPC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPC4 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M038210:  view genomic region     (about GC identifiers)

Start:
38,210,773 bp from pter      End:
38,444,562 bp from pter
Size:
233,790 bases      Orientation:
minus strand

(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: TRPC4_HUMAN, Q9UBN4 (See protein sequence)
Recommended Name: Short transient receptor potential channel 4  
Size: 977 amino acids; 112101 Da
Subunit: Interacts with TRPC4AP (By similarity). Homotetramer and heterotetramer with TRPC1 and/or TRPC5. Isoform alpha
but not isoform beta associates with inositol 1,4,5-trisphosphate receptor (ITPR). Interacts with (via PDZ-binding
domain) with SLC9A3R1/NHERF. Interacts with MX1 and RNF24. Interacts (via CIRB domain) with SESTD1 (via spectrin 1
repeat). Interacts with CDH5 and CTNNB1. Interacts with SPTAN1 (via C-terminal spectrin repeats) and SPTBN5 (via
C-terminus). Interacts (via protein 4.1-binding domain) with EPB41L2
Subcellular location: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Enhanced
insertion into the cell membrane after activation of the EGF receptor
Miscellaneous: The interaction with spectrin is important in controlling the translocation of TRPC4 channels to the
plasma membrane following EGF stimulation
Miscellaneous: The cell membrane presentation, the calcium entry function and the interaction with junctional proteins
(CTNNB1 and CDH5) are controlled by endothelial cell-cell contacts
Secondary accessions: B1ALE0 B1ALE1 B1ALE2 Q15721 Q3SWS6 Q96P03 Q96P05 Q9UIB0 Q9UIB1 Q9UIB2
Alternative splicing: 6 isoforms:  Q9UBN4-1   Q9UBN4-2   Q9UBN4-3   Q9UBN4-4   Q9UBN4-5   Q9UBN4-6   

Explore the universe of human proteins at neXtProt for TRPC4: NX_Q9UBN4

Post-translational modifications:

  • Phosphorylation modulates TRPC channel function by regulating the level of TRPC4 at the cell surface and by increasing
  • the association with SLC9A3R1/NHERF1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBN4

  • TRPC4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (6 alternative transcripts): 
    NP_001129427.1  NP_001129428.1  NP_001129429.1  NP_001129430.1  NP_003297.1  NP_057263.1  

    ENSEMBL proteins: 
     ENSP00000369027   ENSP00000369001   ENSP00000435969   ENSP00000348025   ENSP00000351264  
     ENSP00000368995   ENSP00000369003   ENSP00000342580   ENSP00000414316   ENSP00000410133  
    Reactome Protein details: Q9UBN4
    Human Recombinant Protein Products: 
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    Uscn Proteins for TRPC4

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane IDA16254212
    GO:0005887integral to plasma membrane ----
    GO:0005901caveola IEA--
    GO:0005911colocalizes with cell-cell junction IDA19996314


    TRPC4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TRPC4


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

    TRPC4 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR005460 TRPC4_channel
     IPR002153 TRPC_channel
     IPR020683 Ankyrin_rpt-contain_dom
     IPR005821 Ion_trans_dom
     IPR004729 TRP_channel

    Graphical View of Domain Structure for InterPro Entry Q9UBN4

    ProtoNet protein and cluster: Q9UBN4

    4 Blocks protein families:
    IPB002110 Ankyrin repeat signature
    IPB002153 Transient receptor potential family signature
    IPB005460 Transient receptor potential channel 4 signature
    IPB013555 Transient receptor ion channel II


    UniProtKB/Swiss-Prot: TRPC4_HUMAN, Q9UBN4
    Domain: The protein 4.1-binding domain (654-685) is required for binding to EPB41L2 and channel activation
    Domain: The calmodulin- and inositol 1,4,5-trisphosphate receptor-binding (CIRB) domain (695-724) is sufficient for the
    interaction with SESTD1
    Domain: The spectrin-binding domain (730-758) is required for binding to SPTAN1 and SPTBN5
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC4 sub-subfamily
    Similarity: Contains 4 ANK repeats


    (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: TRPC4_HUMAN, Q9UBN4
    Function: Form a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell
    contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger
    system activated by receptor tyrosine kinases or G-protein coupled receptors. Mediates cation entry, with an enhanced
    permeability to barium over calcium. May also be activated by intracellular calcium store depletion

    miRNA
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    hsa-miR-187* hsa-miR-300 hsa-miR-1283 hsa-miR-101 hsa-miR-381
    SwitchGear 3'UTR luciferase reporter plasmidTRPC4 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0005216ion channel activity ----
    GO:0005262calcium channel activity ----
    GO:0005515protein binding IPI15757897
    GO:0008013beta-catenin binding IPI19996314


    TRPC4 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for TRPC4:
     Low eccentricity cells  Synthetic lethal with c-Myc af  Synthetic lethal with cisplati 

    Animal Models:
         Mouse knock-out Trpc4tm1Bni for TRPC4
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Trpc4):
     cardiovascular system  muscle  nervous system  normal 

    TRPC4 for phenotypes           About GeneDecksing


    (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 - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Role of second messengers in netrin-1 signaling
    Role of second messengers in netrin-1 signaling1.00
    Activation of TRPC channels by Netrin-10.60
    2Axon guidance
    Axon guidance1.00
    Developmental Biology0.69
    3Calcium channels
    Calcium channels1.00
    4Sodium channels and transporters: inward current
    Sodium channels and transporters: inward current1.00
    5Netrin-1 signaling
    Netrin-1 signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for TRPC4
        Sodium channels and transporters- inward current
    Calcium channels

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TRPC4
        Intracellular Calcium Signaling

    5        Reactome Pathways for TRPC4
        Developmental Biology
    Netrin-1 signaling
    Role of second messengers in netrin-1 signaling
    Activation of TRPC channels by Netrin-1
    Axon guidance



    TRPC4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TRPC4

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

    5/49 Interacting proteins for TRPC4 (Q9UBN41, 2, 3 ENSP000003690034) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITPR2Q145712, 3, ENSP000003707444MINT-14530 MINT-14529 I2D: score=3 STRING: ENSP00000370744
    MX1P205911, 3, ENSP000003815994EBI-929504,EBI-929476 I2D: score=3 STRING: ENSP00000381599
    ITPR3Q145733, ENSP000003634354I2D: score=2 STRING: ENSP00000363435
    SLC9A3R1O147453, ENSP000002626134I2D: score=2 STRING: ENSP00000262613
    TRPC5Q9UL623, ENSP000002628394I2D: score=2 STRING: ENSP00000262839
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006816calcium ion transport TAS8646775
    GO:0007411axon guidance TAS--
    GO:0014051gamma-aminobutyric acid secretion IEA--
    GO:0051924regulation of calcium ion transport ----
    GO:0070509calcium ion import IDA19996314


    TRPC4 for ontologies           About GeneDecksing



    (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

    TRPC4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for TRPC4

    1 HMDB Compound for TRPC4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    9 Novoseek chemical compound relationships for TRPC4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    1-oleoyl-2-acetyl-sn-glycerol 71.8 1 12721302 (1)
    thapsigargin 70.8 3 12736151 (1), 11830588 (1), 19523685 (1)
    calcium 58.4 31 16254212 (2), 15229105 (2), 15546997 (2), 19523685 (2) (see all 17)
    inositol 1,4,5 trisphosphate 45 2 15654973 (1), 20164195 (1)
    carbachol 37.4 5 11830588 (4)
    atp 0 11 15229105 (3)
    nitric oxide 0 2 16998480 (1)
    lipid 0 3 16270640 (1), 20164195 (1)
    tyrosine 0 1 15902430 (1)

    Search CenterWatch for drugs/clinical trials and news about TRPC4 

    (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 TRPC4 gene (6 alternative transcripts): 
    NM_001135955.1  NM_001135956.1  NM_001135957.1  NM_001135958.1  NM_003306.1  NM_016179.2  

    Unigene Cluster for TRPC4:

    Transient receptor potential cation channel, subfamily C, member 4
    Hs.262960  [show with all ESTs]
    Unigene Representative Sequence: BX648312
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379705(uc010abv.3 uc001uwt.3 uc001uws.3 uc010tey.2 uc010abw.3 uc010aby.3)
    ENST00000379679 ENST00000488717 ENST00000355779 ENST00000358477 ENST00000379673
    ENST00000494529 ENST00000379681(uc010abx.3) ENST00000338947 ENST00000447043
    ENST00000426868

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    Additional cDNA sequence: 

    AF063822.1 AF063823.1 AF063824.1 AF063825.1 AF175406.1 AF421358.1 AF421359.1 AF421360.1 
    AF421362.1 AK312524.1 BC104725.1 BC105641.1 BC105917.1 BX648312.1 U40983.1 

    4 DOTS entries:

    DT.40260695  DT.92419684  DT.92419686  DT.40303044 

    24/25 AceView cDNA sequences (see all 25):

    AF175406 AF421362 NM_016179 AF421358 AF421359 BP378220 U40983 BX092795 
    AF421361 AF421360 BP376494 BP376399 BX648312 AI383963 AF063823 AF063825 
    BP378906 AF063824 AF063822 C02173 AI082121 AA629948 BG189786 BG205685 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for TRPC4 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
    SP1:                                                              -                                       
    SP2:                                                              -                 -     -               
    SP3:                                                              -                                       
    SP4:                                                        -     -                                       
    SP5:                                            -                 -                                       


    ECgene alternative splicing isoforms for TRPC4

    (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

    TRPC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTAAATAAG

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

    About this image

    TRPC4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Line H7 (WA07) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TRPC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRPC4

    SOURCE GeneReport for Unigene cluster: Hs.262960

    UniProtKB/Swiss-Prot: TRPC4_HUMAN, Q9UBN4
    Tissue specificity: Strongly expressed in placenta. Expressed at lower levels in heart, pancreas, kidney and brain.
    Expressed in endothelial cells. Isoform alpha was found to be the predominant isoform. Isoform beta was not found in
    pancreas and brain

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    In Situ
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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 TRPC4 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TRPC41 transient receptor potential cation channel, subfamily more 79.12(n)
    85.32(a)
      418895  XM_417089.3  XP_417089.2 
    lizard
    (Anolis carolinensis)
    Reptilia TRPC46
    --
    83(a)
    1 ↔ 1
    2(82170632-82273783)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.240842 Danio rerio cDNA clone IMAGE2643303 74.53(n)    BC058321.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta trp&ggr;3
    trpgamma1
    calcium ion transport calcium channel3
    CG5996-PA1
    52(a)
    (best of 3)3
    56.12(n)1
    55.8(a)1
      36A93
    349911  NM_135958.31  NP_609802.11 
    worm
    (Caenorhabditis elegans)
    Secernentea trp-13
    trp-21
    Transient-receptor-potential (trp) protein3
    Protein TRP-21
    41(a)3
    52.59(n)1
    48.5(a)1
      III(8607645-8614376)3
    1920561  NM_001027532.21  NP_001022703.11 


    ENSEMBL Gene Tree for TRPC4 (if available)
    TreeFam Gene Tree for TRPC4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRPC4 gene
    TRPC12  TRPC62  TRPC72  TRPC52  TRPC32  
    6 SIMAP similar genes for TRPC4 using alignment to 5 protein entries:     TRPC4_HUMAN (see all proteins):
    TRPC5    TRPC1    TRP7    TRPC7    TRPC6    TRPC3

    TRPC4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TRPC4
    PGOHUM00000250394


    (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

    10/4307 NCBI SNPs in TRPC4 are shown (see all 4307    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1165274821,2
    C,other34581101(+) TCTTCG/AGTCAG 11 /T syn1 int12Minor allele frequency- A:0.00EA NA 4754
    rs731845341,2
    C,F,--19009879(+) ATTAAG/CACAAA 6 -- ds50013Minor allele frequency- C:0.09WA NA EA 358
    rs2010593031,2
    C--19010391(+) GGTAAC/TATGCC 6 -- ut310--------
    rs10780181,2
    C,F,H--19010595(+) GTCCTC/TTTCTT 12 K E mis1 ese3 trp310Minor allele frequency- T:0.01NS EA NA MN 960
    rs29572211,2
    C,F,H--19010847(-) TTTCAG/AAAGAA 9 /K /E spa1 int1 mis1 spl3 ese312Minor allele frequency- A:0.01NS EA NA 1472
    rs1129037801,2
    F--19011245(+) CCTACG/ATAGAA 6 -- int11Minor allele frequency- A:0.50CSA 4
    rs38878941,2
    F,A,H,--19012299(-) TAGCAG/ATGAAT 6 -- int15Minor allele frequency- A:0.02NS EA WA 532
    rs731845371,2
    C,F,--19012542(+) TGAAAA/GATCAG 6 -- int13Minor allele frequency- G:0.08WA NA EA 358
    rs171997501,2
    C,F,H,--19013846(+) TGTGAG/AAAAGC 6 -- int111Minor allele frequency- A:0.08NA NS EA CSA WA 916
    rs45316051,2
    C,F,H,--19015242(+) TTAGCA/GTGACA 6 -- int18Minor allele frequency- G:0.04NS EA NA WA 676

    HapMap Linkage Disequilibrium report for TRPC4 (38210773 - 38444562 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for TRPC4
         3 CNVs: 86793 47992 7011
         1 Indel: 76324
    Human Gene Mutation Database (HGMD): TRPC4

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

    TRPC4 for disorders           About GeneDecksing

    OMIM gene information: 603651    OMIM disorders: --

    13 diseases for TRPC4:    About MalaCards
    generalized epilepsy    anorexia nervosa    basal cell carcinoma    myocardial infarction
    renal cell carcinoma    pulmonary hypertension    hypertension    gingivitis
    prostate cancer    carcinoma    hypoxia    prostatitis
    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: TRPC4 (3 documents)

    Export disorders for TRPC4 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 TRPC4 gene, integrated from 9 sources (see all 98):
    (articles sorted by number of sources associating them with TRPC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. trp, a novel mammalian gene family essential for agonist-activated capacitative Ca2+ entry. (PubMed id 8646775)1, 2, 3 Zhu X....Birnbaumer L. (1996)
    2. Cell-cell contact formation governs Ca2+ signaling by TRPC4 in the vascular endothelium: evidence for a regulatory TRPC4-beta-catenin interaction. (PubMed id 19996314)1, 2, 9 Graziani A.... Groschner K. (2010)
    3. Cloning and expression of the human transient receptor potential 4 (TRP4) gene: localization and functional expression of human TRP4 and TRP3. (PubMed id 11042129)1, 2, 9 McKay R.R.... Putney J.W. Jr. (2000)
    4. The PDZ-interacting domain of TRPC4 controls its localization and surface expression in HEK293 cells. (PubMed id 12154080)1, 2, 9 Mery L....Hoth M. (2002)
    5. Activation of the endothelial store-operated ISOC Ca2+ channel requires interaction of protein 4.1 with TRPC4. (PubMed id 16254212)1, 2, 9 Cioffi D.L.... Stevens T. (2005)
    6. The phospholipid-binding protein SESTD1 is a novel regulator of the transient receptor potential channels TRPC4 and TRPC5. (PubMed id 20164195)1, 2, 9 Miehe S....Strubing C. (2010)
    7. Functional differences between TRPC4 splice variants. (PubMed id 11713258)1, 2, 9 Schaefer M.... Schultz G. (2002)
    8. The spectrin cytoskeleton influences the surface expression and activation of human transient receptor potential channel 4 channels. (PubMed id 18048348)1, 2 Odell A.F....Scott J.L. (2008)
    9. Epidermal growth factor induces tyrosine phosphorylation, membrane insertion, and activation of transient receptor potential channel 4. (PubMed id 16144838)1, 2 Odell A.F....Van Helden D.F. (2005)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      Query String
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      (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: 7223 HGNC: 12336 AceView: TRPC4 Ensembl:ENSG00000133107 euGenes: HUgn7223
    ECgene: TRPC4 H-InvDB: TRPC4

    (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 TRPC4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TRPC4 gene:
    Search GeneIP for patents involving TRPC4

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



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