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

TRPM4 Gene

protein-coding   GIFtS: 57
GCID: GC19P049661

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

  See 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)
About This Section

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

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 progressive familial heart block type 1b, and right bundle branch block, and among its related super-pathways are CREB Pathway and Thyroid hormone synthesis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TRPM4

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

UniProtKB/Swiss-Prot: 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
Subcellular location: Isoform 1: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi
apparatus
Subcellular location: Isoform 2: Endoplasmic reticulum. Golgi apparatus
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:

  • UniProtKB: Phosphorylation by PKC leads to increase the sensitivity to Ca(2+)
  • UniProtKB: Sumoylated. Desumoylated by SENP1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TD43

  • TRPM4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TRPM4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001182156.1  NP_060106.2  

    ENSEMBL proteins: 
     ENSP00000473231   ENSP00000252826   ENSP00000468989   ENSP00000469893   ENSP00000407492  
     ENSP00000470229   ENSP00000471236   ENSP00000347944  

    Human Recombinant Protein Products for TRPM4: 
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    OriGene Protein Over-expression Lysate for TRPM4
    OriGene MassSpec for TRPM4 
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    GenScript Custom Purified and Recombinant Proteins Services for TRPM4
    Novus Biologicals TRPM4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TRPM4 

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

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

    TRPM4 for ontologies           About GeneDecksing



    TRPM4 Antibody Products: 
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    Abcam antibodies for TRPM4
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    ThermoFisher Antibodies for TRPM4
    LSBio Antibodies in human, mouse, rat for TRPM4 

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    GenScript Custom Assay Services for TRPM4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TRPM4 
    Cloud-Clone Corp. CLIAs for TRPM4


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: 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


    TRPM4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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--
         
    TRPM4 for ontologies           About GeneDecksing


    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 

    TRPM4 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TRPM4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRPM4
    8 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TRPM4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TRPM4

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of TRPM4

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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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
    Sirion Biotech Customized lentivirus for stable overexpression of TRPM4 
                         Customized lentivirus expression plasmids for stable overexpression of TRPM4 

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    Search LifeMap BioReagents cell lines for TRPM4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TRPM4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CREB Pathway
    Intracellular Calcium Signaling0.50
    2Insulin secretion
    Insulin secretion0.36
    3Sodium channels and transporters: inward current
    Sodium channels and transporters: inward current

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TRPM4
        Sodium channels and transporters- inward current

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


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


    TRPM4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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--

    TRPM4 for ontologies           About GeneDecksing



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

    TRPM4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for TRPM4

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

    10/14 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)

    Search CenterWatch for drugs/clinical trials and news about TRPM4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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)

    miRNA
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    8 QIAGEN miScript miRNA 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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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): TRPM4 (NM_017636)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRPM4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPM4
    Sirion Biotech Customized lentivirus for stable overexpression of TRPM4 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TRPM4

    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:

    NM_017636 AK000235 AJ575813 AY297046 AF497623 AY297044 AY297045 AY046396 
    AK074664 AK000048 

    GeneLoc Exon Structure

    5/10 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™, 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

    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


    See TRPM4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRPM4

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TRPM4 gene from 6/13 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 80.46(n)1
    83.42(a)1
      7 (29.24 cM)5
    686671  NM_175130.41  NP_780339.21 
     453031555 
    lizard
    (Anolis carolinensis)
    Reptilia TRPM46
    Uncharacterized protein
    54(a)
    1 ↔ 1
    6(79824026-79849614)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC056004.12   -- 75.77(n)    BC056004.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000049461 transient receptor potential cation channel subfamily more 54.74(n)
    50.31(a)
      100004946  XM_003198133.1  XP_003198181.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta trpm6
    --
    16(a)
    possible ortholog
    2R(11150309-11180386)
    worm
    (Caenorhabditis elegans)
    Secernentea gtl-26
    gtl-16
    (see all 4)
    Protein GTL-1
    (see all 4)
    21(a)
    17(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    IV(11273483-11281924)
    IV(11248902-11259465)


    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)
    About This Section
    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

    TRPM4 for paralogs           About GeneDecksing



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

    10/1639 SNPs in TRPM4 are shown (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
    ----------
    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--------
    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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 10 diseases for TRPM4:    About MalaCards
    progressive familial heart block type 1b    right bundle branch block    brugada syndrome    syncope
    encephalomyelitis    cerebritis    multiple sclerosis    pancreatitis
    prostatitis    neuronitis

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

    TRPM4 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for TRPM4 gene, integrated from 9 sources (see all 40):
    (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. (2001)
    2. Cloning and characterization of rat transient recepto r potential-melastatin 4 (TRPM4). (PubMed id 19945433)1, 2, 9 Yoo J.C....Park J.Y. (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. (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. (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. (2011)
    6. TRPM4 enhances cell proliferation through up-regulati on of the I^-catenin signaling pathway. (PubMed id 20625999)1, 2 ArmisAcn R....Stutzin A. (2011)
    7. Gain-of-function mutations in TRPM4 cause autosomal d ominant isolated cardiac conduction disease. (PubMed id 20562447)1, 2 Liu H....Bouvagnet P. (2010)
    8. Impaired endocytosis of the ion channel TRPM4 is asso ciated with human progressive familial heart block type I. (PubMed id 19726882)1, 2 Kruse M....Pongs O. (2009)
    9. TRPM4 controls insulin secretion in pancreatic beta-cells. (PubMed id 16806463)1, 2 Cheng H.... Penner R. (2007)
    10. The Ca2+-activated cation channel TRPM4 is regulated by phosphatidylinositol 4,5-biphosphate. (PubMed id 16424899)1, 2 Nilius B.... Voets T. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54795 HGNC: 17993 AceView: TRPM4 Ensembl:ENSG00000130529 euGenes: HUgn54795
    ECgene: TRPM4 Kegg: 54795 H-InvDB: TRPM4

    (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 TRPM4 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 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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