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    TRPC7 transient receptor potential cation channel subfamily C member 7 [ Homo sapiens (human) ]

    Gene ID: 57113, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TRPC7provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily C member 7provided by HGNC
    Primary source
    HGNC:HGNC:20754
    See related
    Ensembl:ENSG00000069018 AllianceGenome:HGNC:20754
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TRP7
    Summary
    Predicted to enable inositol 1,4,5 trisphosphate binding activity and store-operated calcium channel activity. Predicted to be involved in metal ion transport; regulation of cytosolic calcium ion concentration; and single fertilization. Predicted to act upstream of or within calcium ion transport. Predicted to be located in plasma membrane. Predicted to be part of cation channel complex. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TRPC7 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (136212745..136365545, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (136735275..136888049, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (135548433..135701233, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16379 Neighboring gene SMAD5 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:135488895-135490094 Neighboring gene SMAD family member 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:135527733-135528647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:135528804-135529321 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:135537973-135538930 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:135538931-135539888 Neighboring gene small integral membrane protein 32 Neighboring gene TRPC7 antisense RNA 1 Neighboring gene TRPC7 antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:135586892-135587392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23180 Neighboring gene uncharacterized LOC124901075 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:135717435-135718266 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 18 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 13

    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. Importance of melastatin-like transient receptor potential 7 and cations (magnesium, calcium) in human osteoblast-like cell proliferation. Abed E, et al. Cell Prolif, 2007 Dec. PMID 18021175, Free PMC Article
    2. TRPC7. Numaga T, et al. Handb Exp Pharmacol, 2007. PMID 17217055
    3. TRPC7 is a receptor-operated DAG-activated channel in human keratinocytes. Beck B, et al. J Invest Dermatol, 2006 Sep. PMID 16741513
    4. Canonical transient receptor potential TRPC7 can function as both a receptor- and store-operated channel in HEK-293 cells. Lièvremont JP, et al. Am J Physiol Cell Physiol, 2004 Dec. PMID 15342342
    5. PLC-mediated PI(4,5)P2 hydrolysis regulates activation and inactivation of TRPC6/7 channels. Itsuki K, et al. J Gen Physiol, 2014 Feb. PMID 24470487, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nociceptive transient receptor potential canonical 7 (TRPC7) mediates aging-associated tumorigenesis induced by ultraviolet B.
      Title: Nociceptive transient receptor potential canonical 7 (TRPC7) mediates aging-associated tumorigenesis induced by ultraviolet B.
    2. A fundamental role for PI(4,5)P2 was identified in the regulation of TRPC7 and TRPC6.
      Title: PLC-mediated PI(4,5)P2 hydrolysis regulates activation and inactivation of TRPC6/7 channels.
    3. Phosphorylation of transient receptor potential cation channel subfamily C member 7 significantly suppressed carbachol-induced calcium influx and CREB phosphorylation.
      Title: Functional regulation of transient receptor potential canonical 7 by cGMP-dependent protein kinase Iα.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. heteromeric cation channels comprised of the TRPP2 mutant and the TRPC3 or TRPC7 protein induce enhanced receptor-activated Ca(2+) influx that may lead to dysregulated cell growth in ADPKD
      Title: A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.
    7. Expression and activity of TRPM7 is modulated by extracellular Mg2+ and Ca2+ availability, indicating that TRPM7 channels are involved in intracellular ion homeostasis and proliferation of osteoblasts.
      Title: Importance of melastatin-like transient receptor potential 7 and cations (magnesium, calcium) in human osteoblast-like cell proliferation.
    8. activation of both muscarinic and purinergic receptors via a common DAG-dependent link opens Ca(2+)-permeable TRPC7 channels
      Title: TRPC7 is a receptor-operated DAG-activated channel in human keratinocytes.
    9. the physiological importance of TRPC7 in the native environment remains elusive, TRPC7 would play important roles in Ca2+ signaling pathway--{REVIEW}
      Title: TRPC7.
    10. can be activated by both receptor- and store-operated modes in the same cell.
      Title: Canonical transient receptor potential TRPC7 can function as both a receptor- and store-operated channel in HEK-293 cells.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    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

    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 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
    		  
    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 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 nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    short transient receptor potential channel 7
    Names
    likley ortholog of mouse transient receptor potential cation channel, subfamily C, member 7
    putative capacitative calcium channel
    transient receptor protein 7
    NP_001161048.1
    NP_001161049.1
    NP_001363830.1
    NP_065122.1

    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.

    mRNA and Protein(s)

    1. NM_001167576.2 → NP_001161048.1  short transient receptor potential channel 7 isoform 3

      See identical proteins and their annotated locations for NP_001161048.1

      Status: VALIDATED

      Source sequence(s)
      AC008661
      Consensus CDS
      CCDS54905.1
      UniProtKB/TrEMBL
      Q8IWP8
      Related
      ENSP00000330322.5, ENST00000352189.8
      Conserved Domains (2) summary
      TIGR00870
      Location:27 → 706
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:77 → 108
      ANK; ANK repeat [structural motif]

    2. NM_001167577.2 → NP_001161049.1  short transient receptor potential channel 7 isoform 2

      See identical proteins and their annotated locations for NP_001161049.1

      Status: VALIDATED

      Source sequence(s)
      AC008661
      Consensus CDS
      CCDS54906.1
      UniProtKB/TrEMBL
      Q8IWP8
      Related
      ENSP00000367720.3, ENST00000378459.7
      Conserved Domains (2) summary
      TIGR00870
      Location:27 → 761
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:77 → 108
      ANK; ANK repeat [structural motif]

    3. NM_001376901.1 → NP_001363830.1  short transient receptor potential channel 7 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008661
      Consensus CDS
      CCDS93787.1
      UniProtKB/TrEMBL
      H0Y9S0, Q70T25, Q8IWP8
      Related
      ENSP00000424854.3, ENST00000502753.4
      Conserved Domains (2) summary
      TIGR00870
      Location:27 → 767
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:77 → 108
      ANK; ANK repeat [structural motif]

    4. NM_020389.3 → NP_065122.1  short transient receptor potential channel 7 isoform 1

      See identical proteins and their annotated locations for NP_065122.1

      Status: VALIDATED

      Source sequence(s)
      AC008661
      Consensus CDS
      CCDS47267.2
      UniProtKB/Swiss-Prot
      A1A4Z4, F5H5U9, Q70T26, Q8IWP7, Q9HCX4
      UniProtKB/TrEMBL
      Q8WWL3
      Related
      ENSP00000426070.2, ENST00000513104.6
      Conserved Domains (2) summary
      TIGR00870
      Location:27 → 822
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:77 → 108
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      136212745..136365545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      136735275..136888049 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCX4.1 GenPept UniProtKB/Swiss-Prot:Q9HCX4

    Gene LinkOut

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

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