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Aliases for TRPM4 Gene

Aliases for TRPM4 Gene

  • 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
  • Transient Receptor Potential Cation Channel, Subfamily M, Member 4 2
  • 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 Familial Progressive Cardiac Conduction Defect. Among its related pathways are TRP channels and Insulin secretion. GO annotations related to this gene include calmodulin binding and calcium channel activity. An important paralog of this gene is TRPM5.

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

Additional gene information for TRPM4 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H049154 1.6 Ensembl ENCODE dbSUPER 14.2 -1.0 -978 5 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 SP3 SP5 TRPM4 PRR12 SEC1P GRWD1 RPS11 SNORD35A RPL13A PIH1D1 RPL18 KDELR1
GH19H048988 1.5 FANTOM5 ENCODE 13.1 -165.7 -165688 7 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 ZBTB7B YY1 NUP62 GRWD1 ENSG00000268047 TSKS RUVBL2 AKT1S1 LOC101059948 TRPM4 NUCB1 CYTH2
GH19H049801 1.3 Ensembl ENCODE dbSUPER 12.6 +644.5 644519 1 CTCF HDGF PKNOX1 KLF1 NFIB FEZF1 RAD21 ZFHX2 GLIS2 POLR2A LOC105372435 TRPM4 AP2A1 AKT1S1 PIR61442 MIR6799
GH19H049164 1.1 Ensembl ENCODE dbSUPER 14.6 +7.8 7807 1 BCOR ZMYM3 FOXA1 ZNF121 ZFHX2 ZNF512 PRDM1 ZFX EGR2 TRPM4 SLC6A21P
GH19H048644 1.1 ENCODE 12.6 -511.8 -511811 2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ZNF766 ZNF143 GRWD1 SNORD35A NOP53-AS1 ALDH16A1 SNORD35B NOP53 RPS11 RPL13A PRR12 KDELR1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000110853 159 1001 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF2 GLIS2 SP3 SP5 REST

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

Post-translational modifications for TRPM4 Gene

  • Phosphorylation by PKC leads to increase the sensitivity to Ca(2+).
  • Sumoylated. Desumoylated by SENP1.
  • Ubiquitination at posLast=10591059, posLast=11291129, and posLast=11601160
  • 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:

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.

Phenotypes From GWAS Catalog for TRPM4 Gene

Gene Ontology (GO) - Molecular Function for TRPM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005227 calcium activated cation channel activity IEA,ISS --
GO:0005262 calcium channel activity IEA --
GO:0005272 sodium channel activity TAS --
GO:0005516 calmodulin 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

CRISPR Products

miRNA for TRPM4 Gene

miRTarBase miRNAs that target TRPM4

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TRPM4
  • Applied Biological Materials Clones for TRPM4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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

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

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 IDA,IEA 20656926
GO:0006810 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 528
Clotrimazole Approved, Vet_approved Pharma Inhibition, Pore Blocker, inhibitor Cytochrome P450 inhibitor; antifungal 38
spermine Approved Nutra Full agonist, Agonist 0
Flufenamic Acid Experimental Pharma Channel blocker 1
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TRPM4
  • Applied Biological Materials Clones for TRPM4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TRPM4 Gene



NURSA nuclear receptor signaling pathways regulating expression of TRPM4 Gene:

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.

Evidence on tissue expression from TISSUES for TRPM4 Gene

  • Nervous system(4.6)
  • Muscle(2.4)
  • Heart(2.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Organs:
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

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 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia TRPM4 33 34
  • 85.57 (n)
cow
(Bos Taurus)
Mammalia TRPM4 33 34
  • 84.34 (n)
rat
(Rattus norvegicus)
Mammalia Trpm4 33
  • 80.81 (n)
mouse
(Mus musculus)
Mammalia Trpm4 33 16 34
  • 80.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRPM4 34
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRPM4 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpm5 33
  • 58.84 (n)
zebrafish
(Danio rerio)
Actinopterygii trpm4a 33 34
  • 53.82 (n)
TRPM4 (3 of 3) 34
  • 43 (a)
OneToMany
TRPM4 (2 of 3) 34
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta trpm 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gtl-2 34
  • 22 (a)
ManyToMany
gtl-1 34
  • 17 (a)
ManyToMany
gon-2 34
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToMany
Species where no ortholog for TRPM4 was found in the sources mined by GeneCards:
  • 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
rs172146854 Progressive familial heart block 1B (PFHB1B) [MIM:604559] 49,168,042(+) CTCCA(C/G)ACCTG intron-variant, upstream-variant-2KB, reference, missense
rs172147855 Progressive familial heart block 1B (PFHB1B) [MIM:604559] 49,171,597(+) CACCC(A/G)GGCTC reference, missense, utr-variant-5-prime
rs172149856 other, Progressive familial heart block 1B (PFHB1B) [MIM:604559] 49,188,641(+) TCCAG(A/G)GTTCC reference, missense
rs172150857 Progressive familial heart block 1B (PFHB1B) [MIM:604559] 49,196,597(+) TCAGC(C/T)ACCTG intron-variant, reference, missense
rs172151858 Pathogenic, Progressive familial heart block 1B (PFHB1B) [MIM:604559] 49,200,395(+) CAACA(A/G)ACAGC reference, missense

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)

Relevant External Links for TRPM4 Gene

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

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

Disorders for TRPM4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
progressive familial heart block, type ib
  • progressive familial heart block type ib
familial progressive cardiac conduction defect
  • progressive familial heart block
brugada syndrome
  • bangungut
progressive familial heart block
  • familial lenegre disease
right bundle branch block
  • right bundle branch block with left posterior fascicular block
- 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 XZ … Montell C (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 22 60
  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 22 60
  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 (Molecular pharmacology 2006) 3 4 22 60
  4. 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 22 60
  5. Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances. (PMID: 21887725) Stallmeyer B … Schulze-Bahr E (Human mutation 2012) 3 4 60

Products for TRPM4 Gene

  • Addgene plasmids for TRPM4

Sources for TRPM4 Gene

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