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

Gene ID: 7223, updated on 14-Nov-2024

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
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Genomic context

See TRPC4 in Genome Data Viewer
Location:
13q13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (37632063..37869772, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (36851454..37089250, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (38206200..38443909, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:38120407-38120907 Neighboring gene long intergenic non-protein coding RNA 547 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:38169125-38169774 Neighboring gene periostin Neighboring gene Sharpr-MPRA regulatory region 14178 Neighboring gene Sharpr-MPRA regulatory region 929 Neighboring gene uncharacterized LOC124903160 Neighboring gene RNA, 5S ribosomal pseudogene 26 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:38488805-38489357 Neighboring gene long intergenic non-protein coding RNA 2334 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 9 Neighboring gene long intergenic non-protein coding RNA 571

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 IDA
Inferred from Direct Assay
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 IEA
Inferred from Electronic Annotation
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

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

  1. NG_029849.2 RefSeqGene

    Range
    5654..243363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135955.3NP_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:17749
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:122167
    ANK; ANK repeat [structural motif]
  2. NM_001135956.3NP_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:17684
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:122167
    ANK; ANK repeat [structural motif]
  3. NM_001135957.3NP_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:17733
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:122167
    ANK; ANK repeat [structural motif]
  4. NM_001135958.3NP_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:17576
    trp; transient-receptor-potential calcium channel protein
  5. NM_001354799.2NP_001341728.1  short transient receptor potential channel 4 isoform eta

    Status: REVIEWED

    Source sequence(s)
    AL138679, AL354802, AL356495
    Conserved Domains (1) summary
    TIGR00870
    Location:1329
    trp; transient-receptor-potential calcium channel protein
  6. NM_001354806.2NP_001341735.1  short transient receptor potential channel 4 isoform eta

    Status: REVIEWED

    Source sequence(s)
    AL138679, AL354802, AL356495
    Conserved Domains (1) summary
    TIGR00870
    Location:1329
    trp; transient-receptor-potential calcium channel protein
  7. NM_001372055.1NP_001358984.1  short transient receptor potential channel 4 isoform eta

    Status: REVIEWED

    Source sequence(s)
    AL138679, AL354802, AL356495
    Conserved Domains (1) summary
    TIGR00870
    Location:1329
    trp; transient-receptor-potential calcium channel protein
  8. NM_003306.3NP_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:17754
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:122167
    ANK; ANK repeat [structural motif]
  9. NM_016179.4NP_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:17749
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:122167
    ANK; ANK repeat [structural motif]

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

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    37632063..37869772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    TIGR00870
    Location:1334
    trp; transient-receptor-potential calcium channel protein
  2. XM_017020723.2XP_016876212.1  short transient receptor potential channel 4 isoform X1

    Conserved Domains (1) summary
    TIGR00870
    Location:1334
    trp; transient-receptor-potential calcium channel protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    36851454..37089250 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_054374914.1XP_054230889.1  short transient receptor potential channel 4 isoform X1