TRPM4 transient receptor potential cation channel subfamily M member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRPM4provided by HGNC
Official Full Name: transient receptor potential cation channel subfamily M member 4provided by HGNC
Primary source: HGNC:HGNC:17993
See related: Ensembl:ENSG00000130529 MIM:606936; AllianceGenome:HGNC:17993
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EKVP6; LTrpC4; PFHB1B; TRPM4B; hTRPM4
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]
Expression: Broad expression in colon (RPKM 24.0), prostate (RPKM 19.3) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49157792..49211836)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52152347..52209191)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49661049..49715093)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exploring the role of TRPM4 in calcium-dependent triggered activity and cardiac arrhythmias.
Title: Exploring the role of TRPM4 in calcium-dependent triggered activity and cardiac arrhythmias.
Transient receptor potential channel TRPM4 favors oxidized low-density lipoprotein-induced coronary endothelial cell dysfunction via a mechanism involving ferroptosis.
Title: Transient receptor potential channel TRPM4 favors oxidized low-density lipoprotein-induced coronary endothelial cell dysfunction via a mechanism involving ferroptosis.
The Role of TRPM4 in Cardiac Electrophysiology and Arrhythmogenesis.
Title: The Role of TRPM4 in Cardiac Electrophysiology and Arrhythmogenesis.
Influence of TRPM4 rs8104571 genotype on intracranial pressure and outcomes in African Americans with traumatic brain injury.
Title: Influence of TRPM4 rs8104571 genotype on intracranial pressure and outcomes in African Americans with traumatic brain injury.
Roles of TRPM4 in immune responses in keratinocytes and identification of a novel TRPM4-activating agent.
Title: Roles of TRPM4 in immune responses in keratinocytes and identification of a novel TRPM4-activating agent.
The novel TRPM4 c.448G>T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death.
Title: The novel TRPM4 c.448G>T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death.
A Novel Role of the TRPM4 Ion Channel in Exocytosis.
Title: A Novel Role of the TRPM4 Ion Channel in Exocytosis.
Variants in genes encoding the SUR1-TRPM4 non-selective cation channel and sudden infant death syndrome (SIDS): potentially increased risk for cerebral edema.
Title: Variants in genes encoding the SUR1-TRPM4 non-selective cation channel and sudden infant death syndrome (SIDS): potentially increased risk for cerebral edema.
Genetic Variants Associated With Intraparenchymal Hemorrhage Progression After Traumatic Brain Injury.
Title: Genetic Variants Associated With Intraparenchymal Hemorrhage Progression After Traumatic Brain Injury.
Small Molecular Inhibitors Block TRPM4 Currents in Prostate Cancer Cells, with Limited Impact on Cancer Hallmark Functions.
Title: Small Molecular Inhibitors Block TRPM4 Currents in Prostate Cancer Cells, with Limited Impact on Cancer Hallmark Functions.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Erythrokeratodermia variabilis et progressiva 6 MedGen: C5193144 OMIM: 618531 GeneReviews: Not available	not available
Progressive familial heart block type IB MedGen: C1970298 OMIM: 604559 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium-activated cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-activated cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium-activated cation channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in calcium-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to ATP	IEA Inferred from Electronic Annotation more info
involved_in dendritic cell chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in inorganic cation transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane depolarization during AV node cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane depolarization during Purkinje myocyte cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane depolarization during bundle of His cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metal ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of adipose tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of atrial cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of heart rate	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of regulation of vascular associated smooth muscle cell membrane depolarization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vasoconstriction	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein sumoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of T cell cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of sodium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transient receptor potential cation channel subfamily M member 4

Names: calcium-activated non-selective cation channel 1; long transient receptor potential channel 4; melastatin-4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027551.2 RefSeqGene

Range

5034..59078

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195227.2 → NP_001182156.1 transient receptor potential cation channel subfamily M member 4 isoform 2

See identical proteins and their annotated locations for NP_001182156.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AY297046, BM857470, DA218254

Consensus CDS

CCDS56098.1

UniProtKB/Swiss-Prot

Q8TD43

Related

ENSP00000407492.1, ENST00000427978.6

Conserved Domains (1) summary

cl23717
Location:252 → 307

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
NM_001321281.2 → NP_001308210.1 transient receptor potential cation channel subfamily M member 4 isoform 3

Status: REVIEWED

Source sequence(s)

AC008891, AK307897, BM857470

Conserved Domains (1) summary

cl23717
Location:137 → 192

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
NM_001321282.2 → NP_001308211.1 transient receptor potential cation channel subfamily M member 4 isoform 4

Status: REVIEWED

Source sequence(s)

AC008891, BC144122, BM857470

Conserved Domains (1) summary

TIGR00870
Location:315 → 547

trp; transient-receptor-potential calcium channel protein
NM_001321283.2 → NP_001308212.1 transient receptor potential cation channel subfamily M member 4 isoform 5

Status: REVIEWED

Source sequence(s)

AC008891, AY297044, BM857470

UniProtKB/Swiss-Prot

Q8TD43

Conserved Domains (1) summary

cl23717
Location:78 → 133

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
NM_001321285.2 → NP_001308214.1 transient receptor potential cation channel subfamily M member 4 isoform 6

Status: REVIEWED

Source sequence(s)

AC008891, AK295820, BM857470

UniProtKB/TrEMBL

B4DIX5

Conserved Domains (1) summary

TIGR00870
Location:497 → 729

trp; transient-receptor-potential calcium channel protein
NM_017636.4 → NP_060106.2 transient receptor potential cation channel subfamily M member 4 isoform 1

See identical proteins and their annotated locations for NP_060106.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF497623, DA218254

Consensus CDS

CCDS33073.1

UniProtKB/Swiss-Prot

A2RU25, Q7Z5D9, Q8TD43, Q96L84, Q9NXV1

Related

ENSP00000252826.4, ENST00000252826.10

Conserved Domains (2) summary

TIGR00870
Location:851 → 1083

trp; transient-receptor-potential calcium channel protein

cl39032
Location:90 → 357

LSDAT_euk; SLOG in TRPM

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

49157792..49211836

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438992.1 → XP_047294948.1 transient receptor potential cation channel subfamily M member 4 isoform X1
XM_047438993.1 → XP_047294949.1 transient receptor potential cation channel subfamily M member 4 isoform X2

Related

ENST00000595071.5