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Aliases for TRPM4 Gene

Aliases for TRPM4 Gene

  • Transient Receptor Potential Cation Channel Subfamily M Member 4 2 3
  • Transient Receptor Potential Cation Channel, Subfamily M, Member 4 2 3 5
  • Calcium-Activated Non-Selective Cation Channel 1 3 4
  • Long Transient Receptor Potential Channel 4 3 4
  • Melastatin-4 3 4
  • LTrpC4 3 4
  • HTRPM4 3 4
  • LTrpC-4 4
  • PFHB1B 3
  • TRPM4B 3

External Ids for TRPM4 Gene

Previous GeneCards Identifiers for TRPM4 Gene

  • GC19P050319
  • GC19P050029
  • GC19P054337
  • GC19P054352
  • GC19P049661
  • GC19P046037

Summaries for TRPM4 Gene

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. [provided by RefSeq, Mar 2016]

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 ib and brugada syndrome. Among its related pathways are Insulin secretion and CREB Pathway. GO annotations related to this gene include calmodulin binding and calcium channel activity. An important paralog of this gene is TRPM1.

UniProtKB/Swiss-Prot for TRPM4 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPM4 Gene

Genomics for TRPM4 Gene

Regulatory Elements for TRPM4 Gene

Enhancers for TRPM4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TRPM4 on UCSC Golden Path with GeneCards custom track

Promoters for TRPM4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TRPM4 on UCSC Golden Path with GeneCards custom track

Genomic Location for TRPM4 Gene

Chromosome:
19
Start:
49,157,741 bp from pter
End:
49,211,841 bp from pter
Size:
54,101 bases
Orientation:
Plus strand

Genomic View for TRPM4 Gene

Genes around TRPM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPM4 Gene

Proteins for TRPM4 Gene

  • Protein details for TRPM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TD43-TRPM4_HUMAN
    Recommended name:
    Transient receptor potential cation channel subfamily M member 4
    Protein Accession:
    Q8TD43
    Secondary Accessions:
    • A2RU25
    • Q7Z5D9
    • Q96L84
    • Q9NXV1

    Protein attributes for TRPM4 Gene

    Size:
    1214 amino acids
    Molecular mass:
    134301 Da
    Quaternary structure:
    • Homomultimer.
    SequenceCaution:
    • Sequence=BAA90907.1; Type=Erroneous termination; Positions=1191; Note=Translated as Glu.; Evidence={ECO:0000305};

    Alternative splice isoforms for TRPM4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPM4 Gene

Proteomics data for TRPM4 Gene at MOPED

Post-translational modifications for TRPM4 Gene

No data available for DME Specific Peptides for TRPM4 Gene

Domains & Families for TRPM4 Gene

Gene Families for TRPM4 Gene

Protein Domains for TRPM4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8TD43

UniProtKB/Swiss-Prot:

TRPM4_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM4 sub-subfamily.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM4 sub-subfamily.
genes like me logo Genes that share domains with TRPM4: view

Function for TRPM4 Gene

Molecular function for TRPM4 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
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 channels 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).
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for TRPM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TRPM4: view
genes like me logo Genes that share phenotypes with TRPM4: view

Human Phenotype Ontology for TRPM4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRPM4 Gene

MGI Knock Outs for TRPM4:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRPM4

miRNA for TRPM4 Gene

miRTarBase miRNAs that target TRPM4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRPM4 Gene

Localization for TRPM4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPM4 Gene

Isoform 1: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus.
Isoform 2: Endoplasmic reticulum. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRPM4 Gene COMPARTMENTS Subcellular localization image for TRPM4 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for TRPM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TRPM4: view

Pathways & Interactions for TRPM4 Gene

genes like me logo Genes that share pathways with TRPM4: view

Pathways by source for TRPM4 Gene

1 Qiagen pathway for TRPM4 Gene

Interacting Proteins for TRPM4 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000252826%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000254108%0d%0a
Selected Interacting proteins: ENSP00000252826 for TRPM4 Gene via STRING

SIGNOR curated interactions for TRPM4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TRPM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002407 dendritic cell chemotaxis ISS --
GO:0002724 regulation of T cell cytokine production IEA,IDA 20656926
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with TRPM4: view

Drugs & Compounds for TRPM4 Gene

(14) Drugs for TRPM4 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Agonist, agonist 384
Clotrimazole Approved Pharma Inhibition, Pore Blocker, inhibitor Cytochrome P450 inhibitor; antifungal 30
spermine Approved Nutra Full agonist, Agonist 0
Flufenamic acid Experimental Pharma Channel blocker Activates TRPC6; NSAID 0
9-phenanthrol Pharma Channel blocker 0

(3) Additional Compounds for TRPM4 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
AMP
Antagonist, Gating inhibitor
Ca<sub>i</sub><sup>2+</sup>
Activator
genes like me logo Genes that share compounds with TRPM4: view

Transcripts for TRPM4 Gene

mRNA/cDNA for TRPM4 Gene

Unigene Clusters for TRPM4 Gene

Transient receptor potential cation channel, subfamily M, member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TRPM4 Gene

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:
SP6: - -
SP7: - - - - -
SP8: -
SP9:
SP10:

ExUns: 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -

Relevant External Links for TRPM4 Gene

GeneLoc Exon Structure for
TRPM4
ECgene alternative splicing isoforms for
TRPM4

Expression for TRPM4 Gene

mRNA expression in normal human tissues for TRPM4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPM4 Gene

This gene is overexpressed in Colon - Transverse (x6.9).

Protein differential expression in normal tissues from HIPED for TRPM4 Gene

This gene is overexpressed in Nasal epithelium (64.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TRPM4 Gene



SOURCE GeneReport for Unigene cluster for TRPM4 Gene Hs.467101

mRNA Expression by UniProt/SwissProt for TRPM4 Gene

Q8TD43-TRPM4_HUMAN
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.
genes like me logo Genes that share expression patterns with TRPM4: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for TRPM4 Gene

Orthologs for TRPM4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPM4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TRPM4 35
  • 84.34 (n)
  • 82.77 (a)
TRPM4 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPM4 35
  • 85.57 (n)
  • 85.34 (a)
TRPM4 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trpm4 35
  • 80.34 (n)
  • 82.47 (a)
Trpm4 16
Trpm4 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRPM4 35
  • 99.31 (n)
  • 99.17 (a)
TRPM4 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpm4 35
  • 80.81 (n)
  • 82.44 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia TRPM4 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRPM4 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpm5 35
  • 58.84 (n)
  • 54.96 (a)
zebrafish
(Danio rerio)
Actinopterygii trpm4a 35
  • 53.82 (n)
  • 48.71 (a)
TRPM4 (2 of 3) 36
  • 41 (a)
OneToMany
TRPM4 (3 of 3) 36
  • 43 (a)
OneToMany
trpm4a 36
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta trpm 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gon-2 36
  • 16 (a)
ManyToMany
gtl-1 36
  • 17 (a)
ManyToMany
gtl-2 36
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for TRPM4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRPM4 Gene

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

Paralogs for TRPM4 Gene

Paralogs for TRPM4 Gene

(6) SIMAP similar genes for TRPM4 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with TRPM4: view

Variants for TRPM4 Gene

Sequence variations from dbSNP and Humsavar for TRPM4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_064042 Progressive familial heart block 1B (PFHB1B)
rs113984787 - 49,167,950(+) CAGCT(A/G)CAGTT intron-variant, upstream-variant-2KB, reference, missense
VAR_066762 -
VAR_066763 Progressive familial heart block 1B (PFHB1B)
VAR_066764 Progressive familial heart block 1B (PFHB1B)

Structural Variations from Database of Genomic Variants (DGV) for TRPM4 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
dgv3970n71 CNV Loss 21882294
nsv833859 CNV Loss 17160897
nsv912255 CNV Loss 21882294
nsv912258 CNV Loss 21882294
dgv3971n71 CNV Loss 21882294
nsv524235 CNV Gain 19592680
esv2718704 CNV Deletion 23290073
esv2741166 CNV Deletion 23290073
esv999596 CNV Insertion 20482838
esv2718705 CNV Deletion 23290073
esv2718706 CNV Deletion 23290073
esv2718708 CNV Deletion 23290073
esv2718709 CNV Deletion 23290073
esv2718710 CNV Deletion 23290073

Variation tolerance for TRPM4 Gene

Residual Variation Intolerance Score: 28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRPM4 Gene

HapMap Linkage Disequilibrium report
TRPM4
Human Gene Mutation Database (HGMD)
TRPM4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPM4 Gene

Disorders for TRPM4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TRPM4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
progressive familial heart block, type ib
  • right bundle branch block
brugada syndrome
  • sudden unexpected nocturnal death syndrome
familial progressive cardiac conduction defect
  • familial lenègre disease
right bundle branch block
  • right bundle branch block with left posterior fascicular block
brugada syndrome 1
  • brugada syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TRPM4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRPM4_HUMAN
  • 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. {ECO:0000269 PubMed:19726882, ECO:0000269 PubMed:20562447, ECO:0000269 PubMed:21887725}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRPM4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPM4
genes like me logo Genes that share disorders with TRPM4: view

No data available for Genatlas for TRPM4 Gene

Publications for TRPM4 Gene

  1. Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform. (PMID: 11535825) Xu X.-Z.S. … Montell C. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4 23 67
  2. Cloning and characterization of rat transient receptor potential- melastatin 4 (TRPM4). (PMID: 19945433) Yoo J.C. … Park J.Y. (Biochem. Biophys. Res. Commun. 2010) 3 23
  3. A pyrazole derivative potently inhibits lymphocyte Ca2+ influx and cytokine production by facilitating transient receptor potential melastatin 4 channel activity. (PMID: 16407466) Takezawa R. … Penner R. (Mol. Pharmacol. 2006) 3 23
  4. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PMID: 16382100) Clapham D.E. … Schultz G. (Pharmacol. Rev. 2005) 2 3
  5. TRPM5 is a voltage-modulated and Ca(2+)-activated monovalent selective cation channel. (PMID: 12842017) Hofmann T. … Montell C. (Curr. Biol. 2003) 3 23

Products for TRPM4 Gene

Sources for TRPM4 Gene

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