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TRPC6 transient receptor potential cation channel subfamily C member 6 [ Homo sapiens (human) ]

Gene ID: 7225, updated on 7-Apr-2024

Summary

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Official Symbol
TRPC6provided by HGNC
Official Full Name
transient receptor potential cation channel subfamily C member 6provided by HGNC
Primary source
HGNC:HGNC:12338
See related
Ensembl:ENSG00000137672 MIM:603652; AllianceGenome:HGNC:12338
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
TRP6; FSGS2
Summary
The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]
Expression
Broad expression in placenta (RPKM 7.7), lung (RPKM 7.3) and 18 other tissues See more
Orthologs
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Genomic context

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See TRPC6 in Genome Data Viewer
Location:
11q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (101451564..101584007, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (101461274..101593486, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (101322295..101454738, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369458 Neighboring gene uncharacterized LOC124902737 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:101336455-101337138 Neighboring gene NANOG hESC enhancer GRCh37_chr11:101384863-101385388 Neighboring gene microRNA 3920 Neighboring gene KIAA1191 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr11:101480606-101481128 Neighboring gene endogenous retrovirus group K member 25 Env polyprotein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Improvement of platelet preservation by inhibition of TRPC6. Tan Y, et al. Transfus Med, 2023 Jun. PMID 36746770
  2. Is Zn(2+) the new Ca(2+) for TRPC6 channels in the myocardium? Dietrich A. Cell Calcium, 2023 Jan. PMID 36450202
  3. TRPC6-protein expression in the elderly and in liver disease. Walz M, et al. Ann Anat, 2023 Jan. PMID 36280186
  4. TRPC6 N338S is a gain-of-function mutant identified in patient with doxorubicin-induced cardiotoxicity. Lu T, et al. Biochim Biophys Acta Mol Basis Dis, 2022 Nov 1. PMID 35882306, Free PMC Article
  5. Protein detection and localization of the non-selective cation channel TRPC6 in the human heart. Jacobs T, et al. Eur J Pharmacol, 2022 Jun 5. PMID 35483666

See all (222) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Expansion of the genotypic and phenotypic spectrum and treatment of four children with Steroid-resistant nephrotic syndrome due to variants of TRPC6 gene].
    Title: [Expansion of the genotypic and phenotypic spectrum and treatment of four children with Steroid-resistant nephrotic syndrome due to variants of TRPC6 gene].
  2. The Multifunctional TRPC6 Protein: Significance in the Field of Cardiovascular Studies.
    Title: The Multifunctional TRPC6 Protein: Significance in the Field of Cardiovascular Studies.
  3. TRPC6 Deletion Enhances eNOS Expression and Reduces LPS-Induced Acute Lung Injury.
    Title: TRPC6 Deletion Enhances eNOS Expression and Reduces LPS-Induced Acute Lung Injury.
  4. A Putative Role for TRPC6 in Immune-Mediated Kidney Injury.
    Title: A Putative Role for TRPC6 in Immune-Mediated Kidney Injury.
  5. An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
    Title: An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
  6. Familial systemic lupus erythematosus associated with a loss-of-function mutation in TRPC6.
    Title: Familial systemic lupus erythematosus associated with a loss-of-function mutation in TRPC6.
  7. Improvement of platelet preservation by inhibition of TRPC6.
    Title: Improvement of platelet preservation by inhibition of TRPC6.
  8. Is Zn[2+] the new Ca[2+] for TRPC6 channels in the myocardium?
    Title: Is Zn(2+) the new Ca(2+) for TRPC6 channels in the myocardium?
  9. TRPC6-protein expression in the elderly and in liver disease.
    Title: TRPC6-protein expression in the elderly and in liver disease.
  10. Mechanosensitive cation currents through TRPC6 and Piezo1 channels in human pulmonary arterial endothelial cells.
    Title: Mechanosensitive cation currents through TRPC6 and Piezo1 channels in human pulmonary arterial endothelial cells.
Submit: New GeneRIF Correction See all GeneRIFs (196)

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
Focal segmental glomerulosclerosis 2
MedGen: C1858915 OMIM: 603965 GeneReviews: Not available
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EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11098, FLJ14863

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 inositol 1,4,5 trisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables monoatomic cation channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables store-operated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
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 monoatomic cation transport TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within positive regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in single fertilization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of cation channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane 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
  
located_in slit diaphragm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
short transient receptor potential channel 6
Names
TRP-6
focal segmental glomerulosclerosis 2
transient receptor protein 6

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_011476.2 RefSeqGene

    Range
    4922..137365
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004621.6 → NP_004612.2  short transient receptor potential channel 6

    See identical proteins and their annotated locations for NP_004612.2

    Status: REVIEWED

    Source sequence(s)
    AJ006276, AK001960, AP003080
    Consensus CDS
    CCDS8311.1
    UniProtKB/Swiss-Prot
    Q52M59, Q9HCW3, Q9NQA8, Q9NQA9, Q9Y210
    UniProtKB/TrEMBL
    E9PJN4
    Related
    ENSP00000340913.3, ENST00000344327.8
    Conserved Domains (2) summary
    TIGR00870
    Location:82 → 897
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:132 → 159
    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

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    101451564..101584007 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427509.1 → XP_047283465.1  short transient receptor potential channel 6 isoform X2

  2. XM_017018221.3 → XP_016873710.1  short transient receptor potential channel 6 isoform X4

    UniProtKB/TrEMBL
    E9PJN4
    Related
    ENSP00000343672.4, ENST00000348423.8
    Conserved Domains (4) summary
    cd00204
    Location:105 → 239
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    TIGR00870
    Location:82 → 781
    trp; transient-receptor-potential calcium channel protein
    pfam08344
    Location:253 → 312
    TRP_2; Transient receptor ion channel II
    sd00045
    Location:132 → 159
    ANK; ANK repeat [structural motif]

  3. XM_047427511.1 → XP_047283467.1  short transient receptor potential channel 6 isoform X2

  4. XM_011542968.4 → XP_011541270.1  short transient receptor potential channel 6 isoform X1

    UniProtKB/TrEMBL
    E9PJN4
    Conserved Domains (2) summary
    TIGR00870
    Location:27 → 842
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:77 → 104
    ANK; ANK repeat [structural motif]

  5. XM_047427510.1 → XP_047283466.1  short transient receptor potential channel 6 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    101461274..101593486 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369803.1 → XP_054225778.1  short transient receptor potential channel 6 isoform X4

  2. XM_054369801.1 → XP_054225776.1  short transient receptor potential channel 6 isoform X1

  3. XM_054369802.1 → XP_054225777.1  short transient receptor potential channel 6 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y210.1 GenPept UniProtKB/Swiss-Prot:Q9Y210

Gene LinkOut

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