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TRPM4 Gene

protein-coding   GIFtS: 60
GCID: GC19P049661

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

  See TRPM4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transient Receptor Potential Cation Channel, Subfamily M, Member 41 2     TRPM4B2
Calcium-Activated Non-Selective Cation Channel 12 3     melastatin-42
Long Transient Receptor Potential Channel 42 3     Transient Receptor Potential Cation Channel Subfamily M Member 42
LTrpC42 3     LTRPC43
hTRPM42 3     LTrpC-43
PFHB1B2 5     Melastatin-43

External Ids:    HGNC: 179931   Entrez Gene: 547952   Ensembl: ENSG000001305297   OMIM: 6069365   UniProtKB: Q8TD433   

Export aliases for TRPM4 gene to outside databases

Previous GC identifers: GC19P050319 GC19P050029 GC19P054337 GC19P054352 GC19P046037


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TRPM4 Gene:
The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of
monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein
increases with increasing intracellular calcium concentration, but this channel does not transport calcium. Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Aug 2010)

GeneCards Summary for TRPM4 Gene:
TRPM4 (transient receptor potential cation channel, subfamily M, member 4) is a protein-coding gene. Diseases associated with TRPM4 include heart block, progressive, type ia, and progressive familial heart block type 1b. GO annotations related to this gene include calcium activated cation channel activity and calmodulin binding. An important paralog of this gene is TRPM2.

UniProtKB/Swiss-Prot: TRPM4_HUMAN, Q8TD43
Function: Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is
activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations
(Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in
cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells,
kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+)
oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in
myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be
involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects
T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of
calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin
signaling pathway

Gene Wiki entry for TRPM4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TRPM4 gene promoter:
         Egr-3   AML1a   MAZR   p300   Bach2   AP-4   Arnt   AREB6   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TRPM4 promoter sequence
   Search Chromatin IP Primers for TRPM4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRPM4


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

TRPM4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPM4 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P049661:  view genomic region     (about GC identifiers)

Start:
49,660,998 bp from pter      End:
49,715,098 bp from pter
Size:
54,101 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TRPM4_HUMAN, Q8TD43 (See protein sequence)
Recommended Name: Transient receptor potential cation channel subfamily M member 4  
Size: 1214 amino acids; 134301 Da
Subunit: Homomultimer
Sequence caution: Sequence=BAA90907.1; Type=Erroneous termination; Positions=1191; Note=Translated as Glu;
Secondary accessions: A2RU25 Q7Z5D9 Q96L84 Q9NXV1
Alternative splicing: 3 isoforms:  Q8TD43-1   Q8TD43-2   Q8TD43-3   

Explore the universe of human proteins at neXtProt for TRPM4: NX_Q8TD43

Explore proteomics data for TRPM4 at MOPED

Post-translational modifications: 

  • Phosphorylation by PKC leads to increase the sensitivity to Ca(2+)1
  • Sumoylated. Desumoylated by SENP11
  • Ubiquitination2 at Lys1059, Lys1129, Lys1160
  • Modification sites at PhosphoSitePlus

  • See TRPM4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182156.1  NP_060106.2  

    ENSEMBL proteins: 
     ENSP00000473231   ENSP00000252826   ENSP00000468989   ENSP00000469893   ENSP00000407492  
     ENSP00000470229   ENSP00000471236   ENSP00000347944  
    Reactome Protein details: Q8TD43

    TRPM4 Human Recombinant Protein Products:

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    Novus Biologicals TRPM4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TRPM4

     
    Search eBioscience for Proteins for TRPM4 

    TRPM4 Antibody Products:

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    Search eBioscience for ELISAs for TRPM4 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPM4
    Transient Receptor Potential channels

    1 InterPro protein domain:
     IPR005821 Ion_trans_dom

    Graphical View of Domain Structure for InterPro Entry Q8TD43

    ProtoNet protein and cluster: Q8TD43

    UniProtKB/Swiss-Prot: TRPM4_HUMAN, Q8TD43
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM4 sub-subfamily


    Find genes that share domains with TRPM4           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: TRPM4_HUMAN, Q8TD43
    Function: Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is
    activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations
    (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in
    cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells,
    kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+)
    oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in
    myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be
    involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects
    T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of
    calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin
    signaling pathway
    Enzyme regulation: Gating is voltage-dependent and repressed by decavanadate. Calmodulin-binding confers the
    Ca(2+) sensitivity. ATP is able to restore Ca(2+) sensitivity after desensitization. Phosphatidylinositol
    4,5-bisphosphate (PIP2)-binding strongly enhances activity, by increasing the channel's Ca(2+) sensitivity and
    shifting its voltage dependence of activation towards negative potentials. Activity is also enhanced by
    3,5-bis(trifluoromethyl)pyrazole derivative (BTP2)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005227calcium activated cation channel activity ISS--
    GO:0005262calcium channel activity IEA--
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with TRPM4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TRPM4:
     Increased circadian period len 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Trpm4):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  no phenotypic analysis 

    Find genes that share phenotypes with TRPM4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TRPM4: Trpm4tm1.1Knt Trpm4tm1.1Mfre

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRPM4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TRPM4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPM4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPM4

    miRNA
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    miRTarBase miRNAs that target TRPM4:
    hsa-mir-335-5p (MIRT017409), hsa-mir-1 (MIRT023660)

    Block miRNA regulation of human, mouse, rat TRPM4 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate TRPM4:
    hsa-miR-3679-3p hsa-miR-199a-5p hsa-miR-2355-5p hsa-miR-135b hsa-miR-199b-5p hsa-miR-4302 hsa-miR-3119 hsa-miR-135a
    SwitchGear 3'UTR luciferase reporter plasmidTRPM4 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat TRPM4

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): TRPM4 (NM_017636)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRPM4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPM4
    Addgene plasmids for TRPM4 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRPM4_HUMAN, Q8TD43: Isoform 1: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi
    apparatus
    TRPM4_HUMAN, Q8TD43: Isoform 2: Endoplasmic reticulum. Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane5
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA19945433
    GO:0005794Golgi apparatus IDA19945433
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TRPM4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TRPM4 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2CREB Pathway
    Intracellular Calcium Signaling0.50
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4Insulin secretion
    Insulin secretion0.36
    5TRP channels
    TRP channels


    Find genes that share SuperPaths with TRPM4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TRPM4
        Intracellular Calcium Signaling

    1 Reactome Pathway for TRPM4
        TRP channels


    1 Kegg Pathway  (Kegg details for TRPM4):
        Insulin secretion

        Pathway & Disease-focused RT2 Profiler PCR Array including TRPM4: 
              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TRPM4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TRPM4 (ENSP000002528264) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002407dendritic cell chemotaxis ISS--
    GO:0002724regulation of T cell cytokine production IDA--
    GO:0006811ion transport ----
    GO:0006816calcium ion transport ----
    GO:0008284positive regulation of cell proliferation IDA--

    Find genes that share ontologies with TRPM4           About GenesLikeMe



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

    Browse Tocris compounds for TRPM4

    1 HMDB Compound for TRPM4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected IUPHAR Ligands for TRPM4 (TRPM4) (see all 14)    About this table
    LigandTypeActionAffinityPubmed IDs
    Ca2+
    ActivatorNone4.7 - 6.5--
    ATP
    Pore BlockerAntagonist5.814758478
    ADP
    Gating inhibitorAntagonist5.714758478
    flufenamic acid
    Channel blockerNone5.55--
    Cai2+
    ActivatorAgonist5.415590641 16424899 15331675 12799367 16407466 12015988
    PIP2
    ActivatorAgonist5.316424899
    AMP-PNP
    Gating inhibitorAntagonist4.714758478
    AMP
    Gating inhibitorAntagonist4.714758478
    spermine
    Pore BlockerAntagonist4.214758478
    adenosine
    Channel blockerNone3.2--

    1 Novoseek inferred chemical compound relationship for TRPM4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 3.14 4 16407466 (2), 12699072 (1)



    Find genes that share compounds with TRPM4           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TRPM4 gene (2 alternative transcripts): 
    NM_001195227.1  NM_017636.3  

    Unigene Cluster for TRPM4:

    Transient receptor potential cation channel, subfamily M, member 4
    Hs.467101  [show with all ESTs]
    Unigene Representative Sequence: NM_017636
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598691 ENST00000252826(uc002pmw.3 uc010yak.2 uc002pmx.3 uc010emv.3 uc010yal.2)
    ENST00000598697 ENST00000599628 ENST00000595519 ENST00000427978(uc010emu.3)
    ENST00000598502 ENST00000596338 ENST00000594568 ENST00000601347 ENST00000595071
    ENST00000595882 ENST00000599459 ENST00000597316 ENST00000355712(uc002pmy.3)

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    8 qRT-PCR Assays for microRNAs that regulate TRPM4:
    hsa-miR-3679-3p hsa-miR-199a-5p hsa-miR-2355-5p hsa-miR-135b hsa-miR-199b-5p hsa-miR-4302 hsa-miR-3119 hsa-miR-135a
    SwitchGear 3'UTR luciferase reporter plasmidTRPM4 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): TRPM4 (NM_017636)
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    Addgene plasmids for TRPM4 
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    Additional mRNA sequence: 

    AF497623.1 AJ575813.1 AK000048.1 AK000235.1 AK074664.1 AK292862.1 AK295820.1 AK307897.1 
    AY046396.1 AY297044.1 AY297045.1 AY297046.1 BC132727.1 BC144122.1 

    11 DOTS entries:

    DT.92062132  DT.100780303  DT.99927401  DT.101981811  DT.121489576  DT.121489602  DT.92012111  DT.95120904 
    DT.95186777  DT.121489564  DT.95183147 

    10 AceView cDNA sequences:

    AJ575813 AY297044 AK000235 NM_017636 AY297046 AF497623 AY297045 AK074664 
    AK000048 AY046396 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TRPM4 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d ^ 13 ^
    SP1:                                            -     -     -     -                                                                 -                           
    SP2:                                                                                                                                                            
    SP3:                                            -     -     -     -     -     -                                         -     -     -                           
    SP4:                                      -     -     -     -     -     -                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b
    SP1:        -                                                                                       
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for TRPM4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TRPM4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCGGCTCCT
    TRPM4 Expression
    About this image


    TRPM4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Colon (Gastrointestinal Tract)
     
     Larynx (Respiratory System)
     
     Prostate (Endocrine System)
    TRPM4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRPM4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.467101

    UniProtKB/Swiss-Prot: TRPM4_HUMAN, Q8TD43
    Tissue specificity: Widely expressed with a high expression in intestine and prostate. In brain, it is both
    expressed in whole cerebral arteries and isolated vascular smooth muscle cells. Prominently expressed in Purkinje
    fibers. Expressed at higher levels in T-helper 2 (Th2) cells as compared to T-helper 1 (Th1) cells

        Pathway & Disease-focused RT2 Profiler PCR Array including TRPM4: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TRPM4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trpm41 , 5 transient receptor potential cation channel, subfamily more1, 5 80.34(n)1
    82.47(a)1
      7 (29.24 cM)5
    686671  NM_175130.41  NP_780339.21 
     453031555 
    lizard
    (Anolis carolinensis)
    Reptilia TRPM46
    transient receptor potential cation channel, subfa...
    55(a)
    1 ↔ 1
    6(79824026-79849614)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC056004.12   -- 75.77(n)    BC056004.1 
    zebrafish
    (Danio rerio)
    Actinopterygii trpm4a1 transient receptor potential cation channel, subfamily more 53.82(n)
    48.71(a)
      100004946  XM_003198133.2  XP_003198181.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta trpm6
    --
    16(a)
    1 → many
    2R(11150309-11180386)
    worm
    (Caenorhabditis elegans)
    Secernentea gtl-26
    gtl-16
    (see all 3)
    Protein GTL-1 (gtl-1) mRNA, complete cds
    (see all 3)
    22(a)
    17(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(11273483-11281924) WBGene00001796
    IV(11248902-11259465) WBGene00001795


    ENSEMBL Gene Tree for TRPM4 (if available)
    TreeFam Gene Tree for TRPM4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TRPM4 gene
    TRPM22  TRPM52  TRPM82  TRPM72  TRPM62  TRPM12  TRPM32  
    6 SIMAP similar genes for TRPM4 using alignment to 7 protein entries:     TRPM4_HUMAN (see all proteins):
    TRPM5    TRPM2    MLSN2    TRPM8    TRPM3    TRPM6

    Find genes that share paralogs with TRPM4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TRPM4 (see all 1639)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1721478551,2,,4
    CProgressive familial heart block 1B (PFHB1B)4 untested149850544(+) CACCCA/GGGCTC 4 Q R mis10--------
    rs2019073251,2,,4
    CProgressive familial heart block 1B (PFHB1B)4 --49861556(+) TGGACA/GCCCTG 4 T A mis10--------
    rs1721498561,2,,4
    CProgressive familial heart block 1B (PFHB1B)4 pathogenic149867588(+) TCCAGA/GGTTCC 4 S G mis10--------
    rs2000384181,2,,4
    CProgressive familial heart block 1B (PFHB1B)4 --49875711(+) CGGGGA/GCCCCG 3 D G mis1 int10--------
    VAR_0667744
    Progressive familial heart block 1B (PFHB1B)4--see VAR_0667742 K R mis40--------
    VAR_0667644
    Progressive familial heart block 1B (PFHB1B)4--see VAR_0667642 R W mis40--------
    VAR_0640424
    Progressive familial heart block 1B (PFHB1B)4--see VAR_0640422 E K mis40--------
    VAR_0667634
    Progressive familial heart block 1B (PFHB1B)4--see VAR_0667632 Q H mis40--------
    VAR_0667714
    Progressive familial heart block 1B (PFHB1B)4--see VAR_0667712 Y H mis40--------
    VAR_0667754
    Progressive familial heart block 1B (PFHB1B)4--see VAR_0667752 P S mis40--------

    HapMap Linkage Disequilibrium report for TRPM4 (49660998 - 49715098 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TRPM4 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2741166CNV Deletion23290073
    esv2718709CNV Deletion23290073
    esv2718708CNV Deletion23290073
    esv2718706CNV Deletion23290073
    esv2718710CNV Deletion23290073
    esv2718705CNV Deletion23290073
    esv2718704CNV Deletion23290073
    esv999596CNV Insertion20482838
    dgv3971n71CNV Loss21882294
    nsv912255CNV Loss21882294

    Human Gene Mutation Database (HGMD): TRPM4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRPM4
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPM4

    (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.)
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    OMIM gene information: 606936   
    OMIM disorders: 604559  
    UniProtKB/Swiss-Prot: TRPM4_HUMAN, Q8TD43
  • Progressive familial heart block 1B (PFHB1B) [MIM:604559]: A cardiac bundle branch disorder characterized
    by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right
    bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete
    atrio-ventricular block causing syncope and sudden death. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 4 diseases for TRPM4:    
    About MalaCards
    heart block, progressive, type ia    progressive familial heart block type 1b    right bundle branch block    brugada syndrome 1

    2 diseases from the University of Copenhagen DISEASES database for TRPM4:
    Right bundle branch block     Brugada syndrome

    Find genes that share disorders with TRPM4           About GenesLikeMe


    Export disorders for TRPM4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TRPM4 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with TRPM4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform. (PubMed id 11535825)1, 2, 3, 9 Xu X.-Z.S.... Montell C. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. Cloning and characterization of rat transient receptor potential- melastatin 4 (TRPM4). (PubMed id 19945433)1, 2, 9 Yoo J.C.... Park J.Y. (Biochem. Biophys. Res. Commun. 2010)
    3. A pyrazole derivative potently inhibits lymphocyte Ca2+ influx and cytokine production by facilitating transient receptor potential melastatin 4 channel activity. (PubMed id 16407466)1, 2, 9 Takezawa R.... Penner R. (Mol. Pharmacol. 2006)
    4. TRPM5 is a voltage-modulated and Ca(2+)-activated monovalent selective cation channel. (PubMed id 12842017)1, 2, 9 Hofmann T.... Montell C. (Curr. Biol. 2003)
    5. Mutational spectrum in the Ca(2+) -activated cation channel gene TRPM4 in patients with cardiac conductance disturbances. (PubMed id 21887725)1, 2 Stallmeyer B.... Schulze-Bahr E. (Hum. Mutat. 2012)
    6. TRPM4 enhances cell proliferation through up-regulation of the beta- catenin signaling pathway. (PubMed id 20625999)1, 2 Armisen R....Stutzin A. (J. Cell. Physiol. 2011)
    7. Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease. (PubMed id 20562447)1, 2 Liu H....Bouvagnet P. (Circ. Cardiovasc. Genet. 2010)
    8. Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. (PubMed id 19726882)1, 2 Kruse M.... Pongs O. (J. Clin. Invest. 2009)
    9. TRPM4 controls insulin secretion in pancreatic beta-cells. (PubMed id 16806463)1, 2 Cheng H.... Penner R. (Cell Calcium 2007)
    10. The Ca2+-activated cation channel TRPM4 is regulated by phosphatidylinositol 4,5-biphosphate. (PubMed id 16424899)1, 2 Nilius B.... Voets T. (EMBO J. 2006)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54795 HGNC: 17993 AceView: TRPM4 Ensembl:ENSG00000130529 euGenes: HUgn54795
    ECgene: TRPM4 Kegg: 54795 H-InvDB: TRPM4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TRPM4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TRPM4 gene:
    Search GeneIP for patents involving TRPM4

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



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