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

Gene ID: 7225, updated on 27-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (101451564..101584007, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (101461274..101593486, complement)
RS_2024_09 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. High expression of transient potential receptor C6 correlated with poor prognosis in patients with esophageal squamous cell carcinoma. Zhang SS, et al. Med Oncol, 2013. PMID 23686700
  2. Essential role of TRPC6 channels in G2/M phase transition and development of human glioma. Ding X, et al. J Natl Cancer Inst, 2010 Jul 21. PMID 20554944
  3. The role of TRPC6 in HGF-induced cell proliferation of human prostate cancer DU145 and PC3 cells. Wang Y, et al. Asian J Androl, 2010 Nov. PMID 20835261, Free PMC Article
  4. Tyrosine phosphorylation-dependent activation of TRPC6 regulated by PLC-γ1 and nephrin: effect of mutations associated with focal segmental glomerulosclerosis. Kanda S, et al. Mol Biol Cell, 2011 Jun 1. PMID 21471003, Free PMC Article
  5. TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype. Gigante M, et al. Clin J Am Soc Nephrol, 2011 Jul. PMID 21734084

See all (230) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Immunohistochemical expression of the cation channel TRPC6 in the submandibular and lacrimal gland and in salivary gland tumors.
    Title: Immunohistochemical expression of the cation channel TRPC6 in the submandibular and lacrimal gland and in salivary gland tumors.
  2. Renal ischaemia-reperfusion injury is promoted by transcription factor NF-kB p65, which inhibits TRPC6 expression by activating miR-150.
    Title: Renal ischaemia-reperfusion injury is promoted by transcription factor NF-kB p65, which inhibits TRPC6 expression by activating miR-150.
  3. [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].
  4. The Multifunctional TRPC6 Protein: Significance in the Field of Cardiovascular Studies.
    Title: The Multifunctional TRPC6 Protein: Significance in the Field of Cardiovascular Studies.
  5. 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.
  6. A Putative Role for TRPC6 in Immune-Mediated Kidney Injury.
    Title: A Putative Role for TRPC6 in Immune-Mediated Kidney Injury.
  7. An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
    Title: An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
  8. 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.
  9. Improvement of platelet preservation by inhibition of TRPC6.
    Title: Improvement of platelet preservation by inhibition of TRPC6.
  10. 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?
Submit: New GeneRIF Correction See all GeneRIFs (198)

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)

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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium channel activity IMP
Inferred from Mutant Phenotype
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 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_2024_08

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

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