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

    Gene ID: 7225, updated on 22-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
    mouse all
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    Genomic context

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    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. 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.
    2. [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].
    3. The Multifunctional TRPC6 Protein: Significance in the Field of Cardiovascular Studies.
      Title: The Multifunctional TRPC6 Protein: Significance in the Field of Cardiovascular Studies.
    4. 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.
    5. A Putative Role for TRPC6 in Immune-Mediated Kidney Injury.
      Title: A Putative Role for TRPC6 in Immune-Mediated Kidney Injury.
    6. An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
      Title: An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
    7. 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.
    8. Improvement of platelet preservation by inhibition of TRPC6.
      Title: Improvement of platelet preservation by inhibition of TRPC6.
    9. 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?
    10. TRPC6-protein expression in the elderly and in liver disease.
      Title: TRPC6-protein expression in the elderly and in liver disease.
    Submit: New GeneRIF Correction See all GeneRIFs (197)

    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
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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