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

Homo sapiens

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

Gene ID: 54795 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110220	CIM0216	Agonist	99.94%	Unkown
HY-108457	9-Phenanthrol	Inhibitor	99.61%	Unkown
HY-128172	TRPM4-IN-2	Inhibitor	99.21%	Unkown
HY-122605	TRPM4-IN-1	Inhibitor	99.98%	Unkown
HY-139192	NMDAR/TRPM4-IN-2		99.59%	Unkown
HY-139192A	NMDAR/TRPM4-IN-2 free base		99.24%	Unkown
HY-RS15114	TRPM4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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