Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TRPM4 (transient receptor potential cation channel subfamily M member 4)

Identity

Alias_namestransient receptor potential cation channel
Alias_symbol (synonym)FLJ20041
Other aliasLTrpC4
PFHB1B
TRPM4B
hTRPM4
HGNC (Hugo) TRPM4
LocusID (NCBI) 54795
Atlas_Id 51840
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49157759 and ends at 49211841 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TRPM4 (19q13.33) / PPFIA3 (19q13.33)TRPM4 (19q13.33) / SERINC2 (1p35.2)TRPM4 19q13.33 / PPFIA3 19q13.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(19;19)(q13;q13) TRPM4/PPFIA3

External links

Nomenclature
HGNC (Hugo)TRPM4   17993
Cards
Entrez_Gene (NCBI)TRPM4  54795  transient receptor potential cation channel subfamily M member 4
AliasesLTrpC4; PFHB1B; TRPM4B; hTRPM4
GeneCards (Weizmann)TRPM4
Ensembl hg19 (Hinxton)ENSG00000130529 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130529 [Gene_View]  ENSG00000130529 [Sequence]  chr19:49157759-49211841 [Contig_View]  TRPM4 [Vega]
ICGC DataPortalENSG00000130529
TCGA cBioPortalTRPM4
AceView (NCBI)TRPM4
Genatlas (Paris)TRPM4
WikiGenes54795
SOURCE (Princeton)TRPM4
Genetics Home Reference (NIH)TRPM4
Genomic and cartography
GoldenPath hg38 (UCSC)TRPM4  -     chr19:49157759-49211841 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TRPM4  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblTRPM4 - 19q13.33 [CytoView hg19]  TRPM4 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBITRPM4 [Mapview hg19]  TRPM4 [Mapview hg38]
OMIM604559   606936   
Gene and transcription
Genbank (Entrez)AF497623 AJ575813 AK000048 AK000235 AK074664
RefSeq transcript (Entrez)NM_001195227 NM_001321281 NM_001321282 NM_001321283 NM_001321285 NM_017636
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TRPM4
Cluster EST : UnigeneHs.467101 [ NCBI ]
CGAP (NCI)Hs.467101
Alternative Splicing GalleryENSG00000130529
Gene ExpressionTRPM4 [ NCBI-GEO ]   TRPM4 [ EBI - ARRAY_EXPRESS ]   TRPM4 [ SEEK ]   TRPM4 [ MEM ]
Gene Expression Viewer (FireBrowse)TRPM4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54795
GTEX Portal (Tissue expression)TRPM4
Human Protein AtlasENSG00000130529-TRPM4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TD43   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TD43  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TD43
Splice isoforms : SwissVarQ8TD43
PhosPhoSitePlusQ8TD43
Domains : Interpro (EBI)Ion_trans_dom    TRPM4   
Domain families : Pfam (Sanger)Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00520   
Conserved Domain (NCBI)TRPM4
DMDM Disease mutations54795
Blocks (Seattle)TRPM4
SuperfamilyQ8TD43
Human Protein Atlas [tissue]ENSG00000130529-TRPM4 [tissue]
Peptide AtlasQ8TD43
HPRD09502
IPIIPI00294933   IPI00644607   IPI00385243   IPI00908934   
Protein Interaction databases
DIP (DOE-UCLA)Q8TD43
IntAct (EBI)Q8TD43
FunCoupENSG00000130529
BioGRIDTRPM4
STRING (EMBL)TRPM4
ZODIACTRPM4
Ontologies - Pathways
QuickGOQ8TD43
Ontology : AmiGOadaptive immune response  dendritic cell chemotaxis  regulation of T cell cytokine production  calcium activated cation channel activity  calcium activated cation channel activity  calcium channel activity  sodium channel activity  calmodulin binding  ATP binding  nucleoplasm  endoplasmic reticulum  Golgi apparatus  cytosol  plasma membrane  plasma membrane  positive regulation of cytosolic calcium ion concentration  positive regulation of cell proliferation  positive regulation of heart rate  protein sumoylation  calcium-mediated signaling  negative regulation of bone mineralization  sodium channel complex  positive regulation of insulin secretion involved in cellular response to glucose stimulus  vasoconstriction  neuronal cell body  positive regulation of fat cell differentiation  negative regulation of osteoblast differentiation  positive regulation of vasoconstriction  calcium ion transmembrane transport  membrane depolarization during AV node cell action potential  membrane depolarization during Purkinje myocyte cell action potential  membrane depolarization during bundle of His cell action potential  regulation of heart rate by cardiac conduction  positive regulation of canonical Wnt signaling pathway  sodium ion import across plasma membrane  regulation of ventricular cardiac muscle cell action potential  positive regulation of atrial cardiac muscle cell action potential  positive regulation of adipose tissue development  positive regulation of regulation of vascular smooth muscle cell membrane depolarization  
Ontology : EGO-EBIadaptive immune response  dendritic cell chemotaxis  regulation of T cell cytokine production  calcium activated cation channel activity  calcium activated cation channel activity  calcium channel activity  sodium channel activity  calmodulin binding  ATP binding  nucleoplasm  endoplasmic reticulum  Golgi apparatus  cytosol  plasma membrane  plasma membrane  positive regulation of cytosolic calcium ion concentration  positive regulation of cell proliferation  positive regulation of heart rate  protein sumoylation  calcium-mediated signaling  negative regulation of bone mineralization  sodium channel complex  positive regulation of insulin secretion involved in cellular response to glucose stimulus  vasoconstriction  neuronal cell body  positive regulation of fat cell differentiation  negative regulation of osteoblast differentiation  positive regulation of vasoconstriction  calcium ion transmembrane transport  membrane depolarization during AV node cell action potential  membrane depolarization during Purkinje myocyte cell action potential  membrane depolarization during bundle of His cell action potential  regulation of heart rate by cardiac conduction  positive regulation of canonical Wnt signaling pathway  sodium ion import across plasma membrane  regulation of ventricular cardiac muscle cell action potential  positive regulation of atrial cardiac muscle cell action potential  positive regulation of adipose tissue development  positive regulation of regulation of vascular smooth muscle cell membrane depolarization  
NDEx NetworkTRPM4
Atlas of Cancer Signalling NetworkTRPM4
Wikipedia pathwaysTRPM4
Orthology - Evolution
OrthoDB54795
GeneTree (enSembl)ENSG00000130529
Phylogenetic Trees/Animal Genes : TreeFamTRPM4
HOVERGENQ8TD43
HOGENOMQ8TD43
Homologs : HomoloGeneTRPM4
Homology/Alignments : Family Browser (UCSC)TRPM4
Gene fusions - Rearrangements
Fusion : MitelmanTRPM4/PPFIA3 [19q13.33/19q13.33]  
Fusion PortalTRPM4 19q13.33 PPFIA3 19q13.33 BRCA PRAD
Fusion : QuiverTRPM4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTRPM4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRPM4
dbVarTRPM4
ClinVarTRPM4
1000_GenomesTRPM4 
Exome Variant ServerTRPM4
ExAC (Exome Aggregation Consortium)ENSG00000130529
GNOMAD BrowserENSG00000130529
Genetic variants : HAPMAP54795
Genomic Variants (DGV)TRPM4 [DGVbeta]
DECIPHERTRPM4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTRPM4 
Mutations
ICGC Data PortalTRPM4 
TCGA Data PortalTRPM4 
Broad Tumor PortalTRPM4
OASIS PortalTRPM4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTRPM4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTRPM4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch TRPM4
DgiDB (Drug Gene Interaction Database)TRPM4
DoCM (Curated mutations)TRPM4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TRPM4 (select a term)
intoGenTRPM4
Cancer3DTRPM4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604559    606936   
Orphanet965    8022    8022   
DisGeNETTRPM4
MedgenTRPM4
Genetic Testing Registry TRPM4
NextProtQ8TD43 [Medical]
TSGene54795
GENETestsTRPM4
Target ValidationTRPM4
Huge Navigator TRPM4 [HugePedia]
snp3D : Map Gene to Disease54795
BioCentury BCIQTRPM4
ClinGenTRPM4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54795
Chemical/Pharm GKB GenePA38272
Clinical trialTRPM4
Miscellaneous
canSAR (ICR)TRPM4 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTRPM4
EVEXTRPM4
GoPubMedTRPM4
iHOPTRPM4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:55:32 CEST 2018
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