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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
External Ids for TRPM4 Gene
- HGNC: 17993
- Entrez Gene: 54795
- Ensembl: ENSG00000130529
- OMIM: 606936
- UniProtKB: Q8TD43
Previous GeneCards Identifiers for TRPM4 Gene
- GC19P050319
- GC19P050029
- GC19P054337
- GC19P054352
- GC19P049661
- GC19P046037
Summaries 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 Aldosterone synthesis and secretion and CREB Pathway. 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).
Additional gene information for TRPM4 Gene
- HGNC(17993)
- Entrez Gene(54795)
- Ensembl(ENSG00000130529)
- OMIM(606936)
- UniProtKB(Q8TD43)
- Open Targets Platform(ENSG00000130529)
- Monarch Initiative
- Search for TRPM4 at DataMed
- Search for TRPM4 at HumanCyc
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
- 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
Genomic Locations for TRPM4 Gene
- chr19:49,157,741-49,211,841
- (GRCh38/hg38)
- Size:
- 54,101 bases
- Orientation:
- Plus strand
- chr19:49,660,998-49,715,098
- (GRCh37/hg19)
- 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:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
TRPM4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for TRPM4 Gene
Post-translational modifications for TRPM4 Gene
Other Protein References for TRPM4 Gene
Antibody Products
- LifeSpan BioSciences TRPM4 Antibody (LS-A8602) and TRPM4 Antibody (LS-A8605)
- NSJ Bioreagents TRPM4 Antibody
- HUABIO TRPM4 Antibody (ER1902-81)
- Novus Biologicals Antibodies for TRPM4
-
Abcam antibodies for TRPM4
- Invitrogen Antibodies for TRPM4 (AFLGC-TRPM4)
- antibodies-online: Show 35 available TRPM4 Antibodies ranked by validation data
- Compare Top TRPM4 Antibodies
-
Recommended
- 50 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 IHC (p) Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 18 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 21 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
-
Boster Bio Antibodies for TRPM4
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TRPM4
- Origene Custom Protein Services for TRPM4
Assay Products
-
Signalway ELISA kits for TRPM4
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
Q8TD43UniProtKB/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.
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
| 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:0005262 | calcium channel activity | IEA | -- |
| GO:0005509 | calcium ion binding | IDA | 29217581 |
Phenotypes for TRPM4 Gene
- MGI mutant phenotypes for TRPM4:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for TRPM4:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased circadian period length
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance
- Increased caspase activity
Animal Model Products
-
Taconic Biosciences Mouse Models for TRPM4
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TRPM4 - Select products 50% OFF >
- * TRPM4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TRPM4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TRPM4
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRPM4
miRNA for TRPM4 Gene
- miRTarBase miRNAs that target TRPM4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TRPM4
- Browse OriGene Inhibitory RNA Products For TRPM4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPM4
Clone Products
- Applied Biological Materials (abm): Clones for TRPM4 - Select products 50% OFF >
- * TRPM4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TRPM4
- Addgene plasmids for TRPM4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TRPM4
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Plasma membrane (3)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 19945433 |
| GO:0005794 | Golgi apparatus | IEA,IDA | 19945433 |
| GO:0005829 | cytosol | ISS | -- |
Pathways & Interactions for TRPM4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ion channel transport | ||
| 2 | Aldosterone synthesis and secretion | ||
| 3 | CREB Pathway |
Intracellular Calcium Signaling
.50
|
|
| 4 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 5 | TRP channels | ||
Pathways by source for TRPM4 Gene
4 Reactome pathways for TRPM4 Gene
1 KEGG pathway for TRPM4 Gene
1 Qiagen pathway for TRPM4 Gene
- Intracellular Calcium Signaling
Interacting Proteins for TRPM4 Gene
Selected Interacting proteins:
Q8TD43-TRPM4_HUMAN
ENSP00000252826
for TRPM4 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TRPM4
| 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 | -- |
Drugs & Compounds for TRPM4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Adenosine | Approved, Investigational | Pharma | Agonist, Channel blocker, agonist | 619 | ||
| Clotrimazole | Approved, Vet_approved | Pharma | Pore Blocker, Inhibition, Agonist, Antagonist, Channel blocker, Gating inhibitor, inhibitor | 3024 | ||
| Glyburide | Approved | Pharma | Channel blocker, Inhibitor, Inhibition, Target, inhibitor | Kir6 (KATP) channel blocker | 127 | |
| Flufenamic acid | Approved | Pharma | Channel blocker, Inhibitor, Pore Blocker, Antagonist | Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 | 0 | |
| spermine | Experimental | Nutra | Agonist, Full agonist, Pore Blocker, Antagonist, Channel blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 | |||
| AMP |
|
Gating inhibitor, Antagonist |
|
|||
| Ca<sub>i</sub><sup>2+</sup> |
|
Activator, Agonist |
|
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 :
-
- ENST00000252826 4058 nts (view in UCSC)
- ENST00000427978 3444 nts (view in UCSC)
- ENST00000594568 532 nts (view in UCSC)
- ENST00000595071 2947 nts (view in UCSC)
- ENST00000595519 3702 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TRPM4 - Select products 50% OFF >
- * TRPM4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TRPM4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TRPM4
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRPM4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TRPM4
- Browse OriGene Inhibitory RNA Products For TRPM4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPM4
Clone Products
- Applied Biological Materials (abm): Clones for TRPM4 - Select products 50% OFF >
- * TRPM4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TRPM4
- Addgene plasmids for TRPM4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TRPM4
| 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 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).
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.467101mRNA 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(2.8)
- Muscle(2.8)
- Skin(2.6)
- Kidney(2.6)
- Stomach(2.3)
- Blood(2.3)
- Intestine(2.3)
- Pancreas(2.3)
- Lung(2)
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
Primer Products
-
OriGene qPCR primer pairs for TRPM4
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TRPM4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TRPM4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TRPM4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Trpm4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Trpm4 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TRPM4 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TRPM4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trpm5 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | trpm4a 30 31 |
|
OneToMany | |
| TRPM4 (3 of 3) 31 |
|
OneToMany | |||
| TRPM4 (2 of 3) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | trpm 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | gtl-2 31 |
|
ManyToMany | |
| gtl-1 31 |
|
ManyToMany | |||
| gon-2 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
(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
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 |
|---|---|---|---|---|---|
| 639177 | Uncertain Significance: Progressive familial heart block type IB | 49,168,683(+) | G/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 640131 | Uncertain Significance: Progressive familial heart block type IB | 49,182,622(+) | C/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 643777 | Uncertain Significance: Progressive familial heart block type IB | 49,168,401(+) | G/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 644316 | Uncertain Significance: Progressive familial heart block type IB | 49,171,701(+) | C/T | NONSENSE,FIVE_PRIME_UTR_VARIANT | |
| 645961 | Uncertain Significance: Progressive familial heart block type IB | 49,211,013(+) | AG/A |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPM4 Gene
Disorders for TRPM4 Gene
(16) MalaCards diseases for TRPM4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| progressive familial heart block, type ib |
|
|
| erythrokeratodermia variabilis et progressiva 6 |
|
|
| progressive familial heart block |
|
|
| brugada syndrome |
|
|
| erythrokeratodermia variabilis et progressiva 1 |
|
|
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.
- 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 mutations affecting the gene represented in this entry.
Additional Disease Information for TRPM4
No data available for Genatlas for TRPM4 Gene
Publications for TRPM4 Gene
- 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
- 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
- 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
- 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
- Structure of the human TRPM4 ion channel in a lipid nanodisc. (PMID: 29217581) Autzen HE … Cheng Y (Science (New York, N.Y.) 2018) 3 4
ExternalLinks
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