TRPC4 transient receptor potential cation channel subfamily C member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRPC4provided by HGNC
Official Full Name: transient receptor potential cation channel subfamily C member 4provided by HGNC
Primary source: HGNC:HGNC:12336
See related: Ensembl:ENSG00000133107 MIM:603651; AllianceGenome:HGNC:12336
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: TRP4; HTRP4; HTRP-4
Summary: This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Expression: Biased expression in endometrium (RPKM 6.2), prostate (RPKM 2.5) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (37632063..37869772, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (36851454..37089250, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (38206200..38443909, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Pan-Cancer Analysis of the TRP Family, Especially TRPV4 and TRPC4, and Its Expression Correlated with Prognosis, Tumor Microenvironment, and Treatment Sensitivity.
Title: Pan-Cancer Analysis of the TRP Family, Especially TRPV4 and TRPC4, and Its Expression Correlated with Prognosis, Tumor Microenvironment, and Treatment Sensitivity.
Expression of pH-Sensitive TRPC4 in Common Skin Tumors.
Title: Expression of pH-Sensitive TRPC4 in Common Skin Tumors.
Downregulation of TRPC4 and TRPC5 Inhibits Smooth Muscle Cell Proliferation without Affecting Endothelial Cell Proliferation.
Title: Downregulation of TRPC4 and TRPC5 Inhibits Smooth Muscle Cell Proliferation without Affecting Endothelial Cell Proliferation.
Transient Receptor Potential C 1/4/5 Is a Determinant of MTI-101 Induced Calcium Influx and Cell Death in Multiple Myeloma.
Title: Transient Receptor Potential C 1/4/5 Is a Determinant of MTI-101 Induced Calcium Influx and Cell Death in Multiple Myeloma.
Differential PI(4,5)P2 sensitivities of TRPC4, C5 homomeric and TRPC1/4, C1/5 heteromeric channels.
Title: Differential PI(4,5)P(2) sensitivities of TRPC4, C5 homomeric and TRPC1/4, C1/5 heteromeric channels.
Study reports a novel mechanism of self-limiting activation of TRPC1/4 and TRPC1/5 channels by G protein-coupled receptor stimulation. Galphaq protein directly interacts with either TRPC4 or TRPC5 of the heterotetrameric channels to permit activation. Simultaneously, Galphaq-coupled PLCbeta activation leads to the breakdown of PI(4,5)P2, which inhibits activity of TRPC1/4 and 1/5 channels.
Title: Dual action of the Gα(q)-PLCβ-PI(4,5)P(2) pathway on TRPC1/4 and TRPC1/5 heterotetramers.
We found that the inhibitory Galphai3 protein selectively bound to the G-protein-binding domain on the C-terminus of PC1. The dissociation of Galphai3 upon cleavage of PC1 increased TRPC4 activity.
Title: Gα(i)-mediated TRPC4 activation by polycystin-1 contributes to endothelial function via STAT1 activation.
Our results suggest that OGR1-dependent increases in TRPC4 expression may favor formation of highly Ca(2+) -permeable TRPC4-containing channels that promote transformed granule cell migration. Increased motility of cancer cells is a prerequisite for cancer invasion and metastasis, and our findings may point towards a key role for TRPC4 in progression of certain types of medullablastoma.
Title: Functional expression of calcium-permeable canonical transient receptor potential 4-containing channels promotes migration of medulloblastoma cells.
Protein levels of TRPC4 were elevated in FCD II and tuberous sclerosis complex cortical samples compared to those of control samples.
Title: Elevated Expression of TRPC4 in Cortical Lesions of Focal Cortical Dysplasia II and Tuberous Sclerosis Complex.
STIM1L and TRPC1/4 are working together in myotubes to ensure efficient store refilling and a proper differentiation program.
Title: TRPC1 and TRPC4 channels functionally interact with STIM1L to promote myogenesis and maintain fast repetitive Ca(2+) release in human myotubes.

Submit: New GeneRIF Correction See all GeneRIFs (47)

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

EBI GWAS Catalog

Description
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD. EBI GWAS Catalog EBI GWAS CatalogPubMed
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of transient receptor potential cation channel, subfamily C, member 4 (TRPC4) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-146298 (e-PCR)
- UniSTS:172580

SHGC-82198 (e-PCR)
- UniSTS:103096

Clone Names

MGC119570, MGC119571, MGC119572, MGC119573

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium channel activity	TAS Traceable Author Statement more info
enables inositol 1,4,5 trisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables store-operated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables store-operated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in calcium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in gamma-aminobutyric acid secretion	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of cation channel complex	IBA Inferred from Biological aspect of Ancestor more info
located_in caveola	IEA Inferred from Electronic Annotation more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cortical cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
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

General protein information

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Preferred Names: short transient receptor potential channel 4

Names: trp-related protein 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_029849.2 RefSeqGene

Range

5654..243363

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135955.3 → NP_001129427.1 short transient receptor potential channel 4 isoform beta

See identical proteins and their annotated locations for NP_001129427.1

Status: REVIEWED

Source sequence(s)

AL138679, AL354802, AL356495

Consensus CDS

CCDS45038.1

UniProtKB/TrEMBL

B2R6C6, Q2M2U7

Related

ENSP00000351264.2, ENST00000358477.6

Conserved Domains (2) summary

TIGR00870
Location:17 → 749

trp; transient-receptor-potential calcium channel protein

sd00045
Location:122 → 167

ANK; ANK repeat [structural motif]
NM_001135956.3 → NP_001129428.1 short transient receptor potential channel 4 isoform gamma

See identical proteins and their annotated locations for NP_001129428.1

Status: REVIEWED

Source sequence(s)

AL138679, AL354802, AL356495

Consensus CDS

CCDS45036.1

UniProtKB/TrEMBL

B2R6C6, Q2M2U7

Related

ENSP00000368995.2, ENST00000379673.2

Conserved Domains (2) summary

TIGR00870
Location:17 → 684

trp; transient-receptor-potential calcium channel protein

sd00045
Location:122 → 167

ANK; ANK repeat [structural motif]
NM_001135957.3 → NP_001129429.1 short transient receptor potential channel 4 isoform delta

See identical proteins and their annotated locations for NP_001129429.1

Status: REVIEWED

Source sequence(s)

AL138679, AL354802, AL356495

Consensus CDS

CCDS45039.1

UniProtKB/TrEMBL

B2R6C6

Related

ENSP00000348025.2, ENST00000355779.6

Conserved Domains (2) summary

TIGR00870
Location:17 → 733

trp; transient-receptor-potential calcium channel protein

sd00045
Location:122 → 167

ANK; ANK repeat [structural motif]
NM_001135958.3 → NP_001129430.1 short transient receptor potential channel 4 isoform zeta

See identical proteins and their annotated locations for NP_001129430.1

Status: REVIEWED

Source sequence(s)

AL138679, AL354802, AL356495

Consensus CDS

CCDS45035.1

UniProtKB/TrEMBL

B2R6C6, Q2M2U7

Related

ENSP00000342580.5, ENST00000338947.9

Conserved Domains (1) summary

TIGR00870
Location:17 → 576

trp; transient-receptor-potential calcium channel protein
NM_001354799.2 → NP_001341728.1 short transient receptor potential channel 4 isoform eta

Status: REVIEWED

Source sequence(s)

AL138679, AL354802, AL356495

Conserved Domains (1) summary

TIGR00870
Location:1 → 329

trp; transient-receptor-potential calcium channel protein
NM_001354806.2 → NP_001341735.1 short transient receptor potential channel 4 isoform eta

Status: REVIEWED

Source sequence(s)

AL138679, AL354802, AL356495

Conserved Domains (1) summary

TIGR00870
Location:1 → 329

trp; transient-receptor-potential calcium channel protein
NM_001372055.1 → NP_001358984.1 short transient receptor potential channel 4 isoform eta

Status: REVIEWED

Source sequence(s)

AL138679, AL354802, AL356495

Conserved Domains (1) summary

TIGR00870
Location:1 → 329

trp; transient-receptor-potential calcium channel protein
NM_003306.3 → NP_003297.1 short transient receptor potential channel 4 isoform epsilon

See identical proteins and their annotated locations for NP_003297.1

Status: REVIEWED

Source sequence(s)

AL138679, AL354802, AL356495

Consensus CDS

CCDS45037.1

UniProtKB/TrEMBL

B2R6C6, Q2M2U7

Related

ENSP00000486109.1, ENST00000625583.2

Conserved Domains (2) summary

TIGR00870
Location:17 → 754

trp; transient-receptor-potential calcium channel protein

sd00045
Location:122 → 167

ANK; ANK repeat [structural motif]
NM_016179.4 → NP_057263.1 short transient receptor potential channel 4 isoform alpha

See identical proteins and their annotated locations for NP_057263.1

Status: REVIEWED

Source sequence(s)

AL138679, AL354802, AL356495

Consensus CDS

CCDS9365.1

UniProtKB/Swiss-Prot

B1ALE0, B1ALE1, B1ALE2, Q15721, Q3SWS6, Q96P03, Q96P04, Q96P05, Q9UBN4, Q9UIB0, Q9UIB1, Q9UIB2

UniProtKB/TrEMBL

B2R6C6, Q2M2U7

Related

ENSP00000369027.4, ENST00000379705.8

Conserved Domains (2) summary

TIGR00870
Location:17 → 749

trp; transient-receptor-potential calcium channel protein

sd00045
Location:122 → 167

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

37632063..37869772 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535206.2 → XP_011533508.1 short transient receptor potential channel 4 isoform X1

Conserved Domains (1) summary

TIGR00870
Location:1 → 334

trp; transient-receptor-potential calcium channel protein
XM_017020723.2 → XP_016876212.1 short transient receptor potential channel 4 isoform X1

Conserved Domains (1) summary

TIGR00870
Location:1 → 334

trp; transient-receptor-potential calcium channel protein

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

36851454..37089250 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374913.1 → XP_054230888.1 short transient receptor potential channel 4 isoform X1
XM_054374914.1 → XP_054230889.1 short transient receptor potential channel 4 isoform X1