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    TRPM4 transient receptor potential cation channel subfamily M member 4 [ Homo sapiens (human) ]

    Gene ID: 54795, updated on 13-May-2024

    Summary

    Official Symbol
    TRPM4provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily M member 4provided by HGNC
    Primary source
    HGNC:HGNC:17993
    See related
    Ensembl:ENSG00000130529 MIM:606936; AllianceGenome:HGNC:17993
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EKVP6; LTrpC4; PFHB1B; TRPM4B; hTRPM4
    Summary
    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. [provided by RefSeq, Mar 2016]
    Expression
    Broad expression in colon (RPKM 24.0), prostate (RPKM 19.3) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TRPM4 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49157792..49211836)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52152347..52209191)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49661049..49715093)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49623585-49624085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49635887-49636531 Neighboring gene PTPRF interacting protein alpha 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49640079-49640585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49644909-49645502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49654589-49655198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49660783-49661404 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49662088-49662274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49668584-49669227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49669228-49669870 Neighboring gene histidine rich calcium binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49691645-49692146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49692147-49692646 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49700016-49700342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49713888-49714526 Neighboring gene uncharacterized LOC107985340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14929 Neighboring gene solute carrier family 6 member 21, pseudogene Neighboring gene SUMO1 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20041

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium-activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium-activated cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ligand-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sodium channel activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in calcium-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to ATP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendritic cell chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inorganic cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane depolarization during AV node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during Purkinje myocyte cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during bundle of His cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of adipose tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of atrial cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of heart rate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of regulation of vascular associated smooth muscle cell membrane depolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of vasoconstriction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein sumoylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of T cell cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of sodium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transient receptor potential cation channel subfamily M member 4
    Names
    calcium-activated non-selective cation channel 1
    long transient receptor potential channel 4
    melastatin-4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027551.2 RefSeqGene

      Range
      5034..59078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195227.2NP_001182156.1  transient receptor potential cation channel subfamily M member 4 isoform 2

      See identical proteins and their annotated locations for NP_001182156.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AY297046, BM857470, DA218254
      Consensus CDS
      CCDS56098.1
      UniProtKB/Swiss-Prot
      Q8TD43
      Related
      ENSP00000407492.1, ENST00000427978.6
      Conserved Domains (1) summary
      cl23717
      Location:252307
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
    2. NM_001321281.2NP_001308210.1  transient receptor potential cation channel subfamily M member 4 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC008891, AK307897, BM857470
      Conserved Domains (1) summary
      cl23717
      Location:137192
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
    3. NM_001321282.2NP_001308211.1  transient receptor potential cation channel subfamily M member 4 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC008891, BC144122, BM857470
      Conserved Domains (1) summary
      TIGR00870
      Location:315547
      trp; transient-receptor-potential calcium channel protein
    4. NM_001321283.2NP_001308212.1  transient receptor potential cation channel subfamily M member 4 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC008891, AY297044, BM857470
      UniProtKB/Swiss-Prot
      Q8TD43
      Conserved Domains (1) summary
      cl23717
      Location:78133
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
    5. NM_001321285.2NP_001308214.1  transient receptor potential cation channel subfamily M member 4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC008891, AK295820, BM857470
      UniProtKB/TrEMBL
      B4DIX5
      Conserved Domains (1) summary
      TIGR00870
      Location:497729
      trp; transient-receptor-potential calcium channel protein
    6. NM_017636.4NP_060106.2  transient receptor potential cation channel subfamily M member 4 isoform 1

      See identical proteins and their annotated locations for NP_060106.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF497623, DA218254
      Consensus CDS
      CCDS33073.1
      UniProtKB/Swiss-Prot
      A2RU25, Q7Z5D9, Q8TD43, Q96L84, Q9NXV1
      Related
      ENSP00000252826.4, ENST00000252826.10
      Conserved Domains (2) summary
      TIGR00870
      Location:8511083
      trp; transient-receptor-potential calcium channel protein
      cl39032
      Location:90357
      LSDAT_euk; SLOG in TRPM

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49157792..49211836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438992.1XP_047294948.1  transient receptor potential cation channel subfamily M member 4 isoform X1

    2. XM_047438993.1XP_047294949.1  transient receptor potential cation channel subfamily M member 4 isoform X2

      Related
      ENST00000595071.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52152347..52209191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321303.1XP_054177278.1  transient receptor potential cation channel subfamily M member 4 isoform X2