TRPM4 - transient receptor potential cation channel subfamily M member 4 Gene

Also Known as EKVP6; LTrpC4; PFHB1B; TRPM4B; hTRPM4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54795

About TRPM4

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,157,792-49,211,836 (from NCBI)

This gene has 14 transcripts (splice variants), 304 orthologues, 7 paralogues and is associated with 5 phenotypes. Broad expression in colon (RPKM 24.0), prostate (RPKM 19.3) and 19 other tissues.

Summary

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]

TRPM4 Products (6)

mRNA	Protein	Name
NM_001195227.2	NP_001182156.1	transient receptor potential cation channel subfamily M member 4 isoform 2
NM_001321281.2	NP_001308210.1	transient receptor potential cation channel subfamily M member 4 isoform 3
NM_001321282.2	NP_001308211.1	transient receptor potential cation channel subfamily M member 4 isoform 4
NM_001321283.2	NP_001308212.1	transient receptor potential cation channel subfamily M member 4 isoform 5
NM_001321285.2	NP_001308214.1	transient receptor potential cation channel subfamily M member 4 isoform 6
NM_017636.4	NP_060106.2	transient receptor potential cation channel subfamily M member 4 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	29217581	GOA
enables calcium-activated cation channel activity	IDA IDA: Inferred from direct assay	27207958	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	29211723	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	31837246	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in calcium-mediated signaling	IDA IDA: Inferred from direct assay	27207958	GOA
involved in inorganic cation transmembrane transport	IDA IDA: Inferred from direct assay	29211723	GOA
involved in membrane depolarization during AV node cell action potential	IMP IMP: Inferred from mutant phenotype	27207958	GOA
involved in membrane depolarization during Purkinje myocyte cell action potential	IMP IMP: Inferred from mutant phenotype	27207958	GOA
involved in membrane depolarization during bundle of His cell action potential	IMP IMP: Inferred from mutant phenotype	27207958	GOA
involved in positive regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	20625999	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	20625999	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	29211723	GOA
involved in protein sumoylation	IDA IDA: Inferred from direct assay	19726882	GOA
involved in regulation of T cell cytokine production	IDA IDA: Inferred from direct assay	20656926	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	27207958	GOA
involved in regulation of ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	27207958	GOA
involved in sodium ion import across plasma membrane	IDA IDA: Inferred from direct assay	27207958	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	19945433	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19945433	GOA
located in membrane	IDA IDA: Inferred from direct assay	29217581	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	19945433	GOA
part of sodium channel complex	IDA IDA: Inferred from direct assay	27207958	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRPM4 Protein Structure

Ion_trans

0
200
400
600
800
1000
1214 a.a.

Protein Preferred Names	Protein Names
transient receptor potential cation channel subfamily M member 4	calcium-activated non-selective cation channel 1

TRPM4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	TRPM4	Q8TD43	S100A3	Homo sapiens	P33764	FPS	31837246
Intra	TRPM4	Q8TD43	S100A6	Homo sapiens	P06703	FPS	31837246
Intra	TRPM4	Q8TD43	S100A8	Homo sapiens	P05109	FPS	31837246
Intra	TRPM4	Q8TD43	S100A11	Homo sapiens	P31949	FPS	31837246
Intra	TRPM4	Q8TD43	S100A10	Homo sapiens	P60903	FPS	31837246
Intra	TRPM4	Q8TD43	S100A4	Homo sapiens	P26447	FPS	31837246
Intra	TRPM4	Q8TD43	S100A5	Homo sapiens	P33763	FPS	31837246
Intra	TRPM4	Q8TD43	S100A5	Homo sapiens	P33763	ITC	31837246
Intra	TRPM4	Q8TD43	S100A2	Homo sapiens	P29034	FPS	31837246

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Erythrokeratodermia Variabilis Et Progressiva 6	EKVP6
Progressive Familial Heart Block, Type Ib	Progressive Familial Heart Block Type Ib PFHB1B Pfhbib Progressive Familial Heart Block Type 1b Heart Block Progressive Familial Type 1b Progressive Familial Heart Block 1b Cardiac Conduction Block Right-Bundle Branch Block Heart Block, Familial, Progressive, Type 1b Heart Block Right Bundle Branch Block
Familial Progressive Cardiac Conduction Defect	Familial Lenegre Disease Familial Lev Disease Familial Lev-Lenegre Disease Familial Pccd Familial Progressive Heart Block Hereditary Bundle Branch Defect Hereditary Bundle Branch System Defect
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Progressive Familial Heart Block	Hereditary Bundle Branch Defect Hereditary Bundle Branch System Defect Familial Lenegre Disease Familial Lev Disease Familial Lev-Lenegre Disease Familial Pccd Familial Progressive Heart Block Pfhb Bundle Branch Block Hbbd Lenegre Lev Disease Lev Syndrome Lev'S Disease Lev-Lenègre Disease Pccd Progressive Cardiac Conduction Defect Bundle-Branch Block
Right Bundle Branch Block	Right Bundle Branch Block With Left Posterior Fascicular Block
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Intracranial Hypertension	Raised Intracranial Pressure
Atrioventricular Block	Av Block
Lymph Node Carcinoma	Lymph Node Cancer Lymph Node Neoplasm Neoplasm Of Lymph Node
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Luminal Breast Carcinoma B	Luminal B Breast Carcinoma
Brugada Syndrome 1	BRGDA1 Sudden Unexplained Nocturnal Death Syndrome Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sunds Brugada Syndrome, Type 1 Brugada Syndrome
Familial Episodic Pain Syndrome	Feps
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Olmsted Syndrome Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques Palmoplantar And Periorificial Keratoderma Olms
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Intracranial Berry Aneurysm	Familial Aneurysmal Subarachnoid Hemorrhage Familial Berry Aneurysm Familial Intracranial Saccular Aneurysm Saccular Cerebral Aneurysm Aneurysm, Intracranial Berry Aneurysmal Subarachnoid Hemorrhage Aneurysm, Intracranial Berry, 1
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-128172	TRPM4-IN-2	Inhibitor	99.17%	Unkown
HY-108457	9-Phenanthrol	Inhibitor	99.61%	Unkown
HY-153468	ErSO-TFPy	Activator	99.33%	Unkown
HY-183268	TRPM4-IN-4	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TRPM4	VGNC	VGNC:47875
Bos taurus	TRPM4	VGNC	VGNC:36390
Rattus norvegicus	TRPM4	RGD	RGD:620244
Mus musculus	TRPM4	MGD	MGI:1915917
Macaca mulatta	TRPM4	VGNC	VGNC:79105
Felis catus	TRPM4	VGNC	VGNC:66590
Others	TRPM4	NCBI