InnateDB Protein
|
IDBP-383157.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
TRPM4
|
Protein Name
|
transient receptor potential cation channel, subfamily M, member 4
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000407492
|
InnateDB Gene
|
IDBG-62419 (TRPM4)
|
Protein Structure
|
|
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. {ECO:0000269PubMed:12015988, ECO:0000269PubMed:12799367, ECO:0000269PubMed:15121803, ECO:0000269PubMed:15472118, ECO:0000269PubMed:15550671, ECO:0000269PubMed:16806463, ECO:0000269PubMed:20625999, ECO:0000269PubMed:20656926}.
|
Subcellular Localization |
Isoform 1: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus.Isoform 2: Endoplasmic reticulum. Golgi apparatus.
|
Disease Associations |
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:0000269PubMed:19726882, ECO:0000269PubMed:20562447, ECO:0000269PubMed:21887725}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
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. {ECO:0000269PubMed:11535825, ECO:0000269PubMed:12015988, ECO:0000269PubMed:12799367, ECO:0000269PubMed:15472118, ECO:0000269PubMed:16777713, ECO:0000269PubMed:19726882, ECO:0000269PubMed:20656926}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
|
Protein-Protein |
3
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q8TD43
|
PhosphoSite |
PhosphoSite-Q8TD43
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
54795
|
UniGene |
Hs.467101
|
RefSeq |
NP_001182156
|
HUGO |
HGNC:17993
|
OMIM |
606936
|
CCDS |
CCDS56098
|
HPRD |
09502
|
IMGT |
|
EMBL |
AF497623
AJ575813
AK000048
AK292862
AY046396
AY297044
AY297045
AY297046
BC132727
|
GenPept |
AAI32728
AAL02142
AAM18083
AAP44473
AAP44474
AAP44475
BAA90907
BAF85551
CAE05941
|
|
|