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] See more...

Aliases for TRPM4 Gene

Aliases for TRPM4 Gene

  • Transient Receptor Potential Cation Channel Subfamily M Member 4 2 3 4 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
  • Transient Receptor Potential Cation Channel, Subfamily M, Member 4 2
  • FLJ20041 2
  • LTrpC-4 4
  • PFHB1B 3
  • TRPM4B 3
  • LTRPC4 4
  • EKVP6 3
  • TRPM4 5

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 Erythrokeratodermia Variabilis Et Progressiva 6. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and TRP channels. Gene Ontology (GO) annotations related to this gene include calmodulin binding and calcium channel activity. An important paralog of this gene is TRPM5.

UniProtKB/Swiss-Prot Summary for TRPM4 Gene

  • Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:29211723, PubMed:30528822). While it is activated by increase in intracellular Ca(2+), it is impermeable to it (PubMed:12015988). 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. Plays a role in keratinocyte differentiation (PubMed:30528822).

Gene Wiki entry for TRPM4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRPM4 Gene

Genomics for TRPM4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRPM4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J049154 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 264.1 -0.7 -667 5.1 ZSCAN16 TBP ZBTB10 MXD4 FEZF1 MNT IKZF1 SMAD5 ZFP64 MBD2 TRPM4 HRC HSALNG0126963 HSALNG0126964 PRR12 SEC1P GRWD1 RPS11 SNORD35A RPL13A
GH19J049147 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 -6.8 -6808 6.1 TBP ZBTB10 SIX5 MNT IKZF1 SMAD5 ETS1 MBD2 BRCA1 BHLHE40 PPFIA3 NONHSAG026224.2 TRPM4 SNRNP70 PRR12 C19orf73 LIN7B PTOV1 GRWD1 PIH1D1
GH19J049161 Enhancer 0.6 Ensembl dbSUPER 8.6 +4.3 4260 0.4 FOSL1 ARID1B DPF2 SMARCE1 ATF3 SMARCA4 TRPM4 HSALNG0126965 SLC6A16
GH19J049176 Enhancer 0.7 Ensembl 6.9 +19.5 19460 1.2 VEZF1 GABPA ADNP PRDM10 CBX1 PTBP1 HDAC2 STAT5A TCF12 EGR1 TRPM4 LOC400710 HSALNG0126966 HSALNG0126967 SLC6A16
GH19J048988 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 2.1 -165.7 -165688 7.2 TBP SP1 FEZF1 CEBPA NR2C1 MNT IKZF1 SMAD5 ETS1 ZFP64 RUVBL2 GYS1 HSALNG0126941 lnc-LHB-2 NUP62 GRWD1 PTOV1-AS2 SNORD35A IRF3 SNORD35B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRPM4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRPM4

Top Transcription factor binding sites by QIAGEN in the TRPM4 gene promoter:
  • AML1a
  • AP-4
  • AREB6
  • Arnt
  • Bach2
  • Egr-3
  • MAZR
  • p300
  • ZID

Genomic Locations for TRPM4 Gene

Latest Assembly
chr19:49,157,741-49,211,841
(GRCh38/hg38)
Size:
54,101 bases
Orientation:
Plus strand

Previous Assembly
chr19:49,661,049-49,715,093
(GRCh37/hg19 by Entrez Gene)
Size:
54,045 bases
Orientation:
Plus strand

chr19:49,660,998-49,715,093
(GRCh37/hg19 by Ensembl)
Size:
54,096 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:
    • Homotetramer.
    SequenceCaution:
    • Sequence=BAA90907.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TRPM4 Gene

    Alternative splice isoforms for TRPM4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPM4 Gene

Post-translational modifications for TRPM4 Gene

  • Phosphorylation by PKC leads to increase the sensitivity to Ca(2+).
  • Sumoylated. Desumoylated by SENP1.
  • Glycosylation at Asn992
  • Ubiquitination at Lys1059, Lys1129, and Lys1160
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TRPM4 Gene

Domains & Families for TRPM4 Gene

Gene Families for TRPM4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for TRPM4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TRPM4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61284, highly similar to Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), mRNA (B4DIX5_HUMAN)
  • Melastatin-4 (TRPM4_HUMAN)

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 Function:
Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:29211723, PubMed:30528822). While it is activated by increase in intracellular Ca(2+), it is impermeable to it (PubMed:12015988). 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. Plays a role in keratinocyte differentiation (PubMed:30528822).
UniProtKB/Swiss-Prot EnzymeRegulation:
Gating is voltage-dependent and repressed by decavanadate (PubMed:15331675, PubMed:29211723). Calmodulin-binding confers the Ca(2+) sensitivity (PubMed:15590641). ATP is able to restore Ca(2+) sensitivity after desensitization (PubMed:15590641). ATP inhibits channel activity (PubMed:15331675, PubMed:14758478, PubMed:29211723). 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 (PubMed:16186107, PubMed:16424899). Activity is also enhanced by 3,5-bis(trifluoromethyl)pyrazole derivative (BTP2) (PubMed:16407466).

Phenotypes From GWAS Catalog for TRPM4 Gene

Gene Ontology (GO) - Molecular Function for TRPM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005216 ion channel activity IEA --
GO:0005227 calcium activated cation channel activity IEA,ISS --
GO:0005261 cation channel activity IBA 21873635
GO:0005262 calcium channel activity 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 Models for research

  • Taconic Biosciences Mouse Models for TRPM4

miRNA for TRPM4 Gene

miRTarBase miRNAs that target TRPM4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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]: Cell membrane. Endoplasmic reticulum. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPM4 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
cytosol 4
extracellular 2
cytoskeleton 2
mitochondrion 2
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRPM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005783 endoplasmic reticulum IEA,IDA 19945433
GO:0005794 Golgi apparatus IEA,IDA 19945433
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane TAS --
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
  • Intracellular Calcium Signaling

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:0002376 immune system process IEA --
GO:0002407 dendritic cell chemotaxis ISS --
GO:0002724 regulation of T cell cytokine production IEA,IDA 20656926
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with TRPM4: view

Drugs & Compounds for TRPM4 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Channel blocker, agonist 659
Clotrimazole Approved, Vet_approved Pharma Channel blocker, Gating inhibitor, Antagonist, inhibitor 3138
Glyburide Approved Pharma Target, inhibitor Kir6 (KATP) channel blocker 126
Flufenamic acid Approved Pharma Channel blocker Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 0
spermine Experimental Nutra Channel blocker, Pore Blocker, Antagonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Gating inhibitor, Antagonist 58-64-0
AMP
Gating inhibitor, Antagonist
Ca<sub>i</sub><sup>2+</sup>
Activator, Agonist
genes like me logo Genes that share compounds with TRPM4: view

Transcripts for TRPM4 Gene

mRNA/cDNA for TRPM4 Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPM4

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

Expression for TRPM4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TRPM4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRPM4

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. Expressed in keratocytes (PubMed:30528822).

Evidence on tissue expression from TISSUES for TRPM4 Gene

  • Nervous system(4.6)
  • Heart(2.6)
  • Muscle(2.6)
  • Skin(2.5)
  • Kidney(2.4)
  • Stomach(2.2)
  • Intestine(2.2)
  • Blood(2.1)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPM4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with TRPM4: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia TRPM4 30 31
  • 99.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TRPM4 30 31
  • 85.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TRPM4 30 31
  • 84.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trpm4 30
  • 80.81 (n)
Mouse
(Mus musculus)
Mammalia Trpm4 30 17 31
  • 80.34 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TRPM4 31
  • 55 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRPM4 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia trpm5 30
  • 58.84 (n)
Zebrafish
(Danio rerio)
Actinopterygii trpm4a 30 31
  • 53.82 (n)
OneToMany
TRPM4 (3 of 3) 31
  • 43 (a)
OneToMany
TRPM4 (2 of 3) 31
  • 41 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta trpm 31
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea gtl-2 31
  • 22 (a)
ManyToMany
gtl-1 31
  • 17 (a)
ManyToMany
gon-2 31
  • 16 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
OneToMany
Species where no ortholog for TRPM4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TRPM4: view image

Paralogs for TRPM4 Gene

Paralogs for TRPM4 Gene

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

  • TRPM4_HUMAN
  • B4DIX5_HUMAN
  • M0QX92_HUMAN
  • M0QYK7_HUMAN
  • M0QZ19_HUMAN
  • M0R0H1_HUMAN
  • M0R3H6_HUMAN
genes like me logo Genes that share paralogs with TRPM4: view

Variants for TRPM4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRPM4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
834215 Uncertain Significance: Progressive familial heart block type IB 49,196,598(+) A/G
NM_017636.4(TRPM4):c.2369A>G (p.Tyr790Cys)
MISSENSE_VARIANT,INTRON
835027 Uncertain Significance: Progressive familial heart block type IB 49,211,231(+) C/T
NM_017636.4(TRPM4):c.3602C>T (p.Pro1201Leu)
MISSENSE
837354 Uncertain Significance: Progressive familial heart block type IB 49,158,197(+) G/A
NM_017636.4(TRPM4):c.30G>A (p.Trp10Ter)
NONSENSE,FIVE_PRIME_UTR
839576 Uncertain Significance: Progressive familial heart block type IB 49,210,286(+) A/T
NM_017636.4(TRPM4):c.3209A>T (p.His1070Leu)
MISSENSE
840837 Uncertain Significance: Progressive familial heart block type IB 49,200,421(+) G/A
NM_017636.4(TRPM4):c.2767G>A (p.Val923Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TRPM4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1057e212 CNV loss 25503493
dgv3621n100 CNV gain 25217958
dgv667e214 CNV gain 21293372
esv2718704 CNV deletion 23290073
esv2718705 CNV deletion 23290073
esv2718706 CNV deletion 23290073
esv2718708 CNV deletion 23290073
esv2718709 CNV deletion 23290073
esv2718710 CNV deletion 23290073
esv2741166 CNV deletion 23290073
esv2760526 CNV gain 21179565
esv3574576 CNV gain 25503493
esv3644616 CNV gain 21293372
esv999596 CNV insertion 20482838
nsv1057663 CNV gain 25217958
nsv1060108 CNV gain 25217958
nsv1123270 CNV deletion 24896259
nsv524235 CNV gain 19592680
nsv833859 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

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)

Additional Variant Information for TRPM4 Gene

Human Gene Mutation Database (HGMD)
TRPM4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPM4

SNP Genotyping and Copy Number Assays for research

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

Disorders for TRPM4 Gene

MalaCards: The human disease database

(23) MalaCards diseases for TRPM4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.
  • Erythrokeratodermia variabilis et progressiva 6 (EKVP6) [MIM:618531]: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP6 inheritance is autosomal dominant. {ECO:0000269 PubMed:30528822}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for 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 XZ … Montell C (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 23
  2. Cloning and characterization of rat transient receptor potential-melastatin 4 (TRPM4). (PMID: 19945433) Yoo JC … Park JY (Biochemical and biophysical research communications 2010) 3 4 23
  3. Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. (PMID: 19726882) Kruse M … Pongs O (The Journal of clinical investigation 2009) 3 4 74
  4. 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 (Molecular pharmacology 2006) 3 4 23
  5. TRPM5 is a voltage-modulated and Ca(2+)-activated monovalent selective cation channel. (PMID: 12842017) Hofmann T … Montell C (Current biology : CB 2003) 3 4 23

Products for TRPM4 Gene

Sources for TRPM4 Gene