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    TRPC3 transient receptor potential cation channel subfamily C member 3 [ Homo sapiens (human) ]

    Gene ID: 7222, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TRPC3provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily C member 3provided by HGNC
    Primary source
    HGNC:HGNC:12335
    See related
    Ensembl:ENSG00000138741 MIM:602345; AllianceGenome:HGNC:12335
    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
    TRP3; SCA41
    Summary
    The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TRPC3 in Genome Data Viewer
    Location:
    4q27
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (121874481..121952060, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (125178529..125256098, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (122795636..122873215, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Bardet-Biedl syndrome 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21872 Neighboring gene BBS7 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15661 Neighboring gene uncharacterized LOC102724158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21873 Neighboring gene Sharpr-MPRA regulatory region 11420 Neighboring gene uncharacterized LOC112268469 Neighboring gene RNA, 7SL, cytoplasmic 335, pseudogene

    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 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. Increased TRPC3 expression in vascular endothelium of patients with malignant hypertension. Thilo F, et al. Mod Pathol, 2009 Mar. PMID 19136933
    2. Structure of the human lipid-gated cation channel TRPC3. Fan C, et al. Elife, 2018 May 4. PMID 29726814, Free PMC Article
    3. Suppression of TRPC3 leads to disappearance of store-operated channels and formation of a new type of store-independent channels in A431 cells. Kaznacheyeva E, et al. J Biol Chem, 2007 Aug 10. PMID 17569672
    4. Subunit dissociation of TRPC3 ion channel under high-salt condition. Mio K, et al. J Electron Microsc (Tokyo), 2007 Jun. PMID 17967814
    5. An optically controlled probe identifies lipid-gating fenestrations within the TRPC3 channel. Lichtenegger M, et al. Nat Chem Biol, 2018 Apr. PMID 29556099, Free PMC Article

    See all (157) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Protective Role of TRPC3 Gene Polymorphism (rs10518289) in Obstructive Sleep Apnea Hypopnea Syndrome Among Hypertensive Patients.
      Title: Protective Role of TRPC3 Gene Polymorphism (rs10518289) in Obstructive Sleep Apnea Hypopnea Syndrome Among Hypertensive Patients.
    2. TRPC3 Is Downregulated in Primary Hyperparathyroidism.
      Title: TRPC3 Is Downregulated in Primary Hyperparathyroidism.
    3. New insights in the renal distribution profile of TRPC3 - Of mice and men.
      Title: New insights in the renal distribution profile of TRPC3 - Of mice and men.
    4. MiRNA-26a-5p inhibits preterm labor initiation by targeting and regulating TRPC3 ion channel protein expression.
      Title: MiRNA-26a-5p inhibits preterm labor initiation by targeting and regulating TRPC3 ion channel protein expression.
    5. Modulation and Regulation of Canonical Transient Receptor Potential 3 (TRPC3) Channels.
      Title: Modulation and Regulation of Canonical Transient Receptor Potential 3 (TRPC3) Channels.
    6. Reduction of TRPC1/TRPC3 mediated Ca[2+]-signaling protects oxidative stress-induced COPD.
      Title: Reduction of TRPC1/TRPC3 mediated Ca(2+)-signaling protects oxidative stress-induced COPD.
    7. TRPC3 Regulates Islet Beta-Cell Insulin Secretion.
      Title: TRPC3 Regulates Islet Beta-Cell Insulin Secretion.
    8. Rs11726196 Single-Nucleotide Polymorphism of the Transient Receptor Potential Canonical 3 (TRPC3) Gene Is Associated with Chronic Pain.
      Title: Rs11726196 Single-Nucleotide Polymorphism of the Transient Receptor Potential Canonical 3 (TRPC3) Gene Is Associated with Chronic Pain.
    9. TRPC3 governs the spatiotemporal organization of cellular Ca[2+] signatures by functional coupling to IP3 receptors.
      Title: TRPC3 governs the spatiotemporal organization of cellular Ca(2+) signatures by functional coupling to IP(3) receptors.
    10. PLAA suppresses ovarian cancer metastasis via METTL3-mediated m(6)A modification of TRPC3 mRNA.
      Title: PLAA suppresses ovarian cancer metastasis via METTL3-mediated m(6)A modification of TRPC3 mRNA.
    Submit: New GeneRIF Correction See all GeneRIFs (119)

    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
    Spinocerebellar ataxia type 41
    MedGen: C4225158 OMIM: 616410 GeneReviews: Not available
    		Compare labs

    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 calcium-activated cation channel activity IEA
    Inferred from Electronic Annotation
    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 metal ion binding IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 phototransduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion transport into cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cardiac muscle hypertrophy in response to stress 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 response to ATP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to calcium ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    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

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    Preferred Names
    short transient receptor potential channel 3
    Names
    hTrp-3
    transient receptor protein 3

    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_030368.2 RefSeqGene

      Range
      5000..82579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130698.2 → NP_001124170.1  short transient receptor potential channel 3 isoform a

      See identical proteins and their annotated locations for NP_001124170.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC079341, AC108930, AY865574, Y13758
      Consensus CDS
      CCDS47130.1
      UniProtKB/Swiss-Prot
      A7VJS1, E9PCJ9, O00593, Q13507, Q15660, Q52M35, Q5G1L5
      UniProtKB/TrEMBL
      J3QTB0
      Related
      ENSP00000368966.3, ENST00000379645.8
      Conserved Domains (4) summary
      cd00204
      Location:119 → 253
      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:96 → 890
      trp; transient-receptor-potential calcium channel protein
      pfam08344
      Location:267 → 326
      TRP_2; Transient receptor ion channel II
      sd00045
      Location:146 → 177
      ANK; ANK repeat [structural motif]

    2. NM_001366479.2 → NP_001353408.1  short transient receptor potential channel 3 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC079341, AC108930
      UniProtKB/TrEMBL
      J3QTB0
      Conserved Domains (2) summary
      TIGR00870
      Location:96 → 862
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:146 → 177
      ANK; ANK repeat [structural motif]

    3. NM_003305.2 → NP_003296.1  short transient receptor potential channel 3 isoform b

      See identical proteins and their annotated locations for NP_003296.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an upstream exon , compared to variant 1, resulting in a different 5' UTR and 5' coding region and translation initiation from an inframe, downstream ATG. The encoded protein (isoform b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AY865574, Y13758
      Consensus CDS
      CCDS3725.1
      UniProtKB/TrEMBL
      J3QTB0
      Related
      ENSP00000264811.5, ENST00000264811.9
      Conserved Domains (2) summary
      TIGR00870
      Location:23 → 817
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:73 → 104
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      121874481..121952060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532218.4 → XP_011530520.1  short transient receptor potential channel 3 isoform X3

      UniProtKB/TrEMBL
      J3QTB0
      Conserved Domains (4) summary
      cd00204
      Location:119 → 253
      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:96 → 889
      trp; transient-receptor-potential calcium channel protein
      pfam08344
      Location:267 → 326
      TRP_2; Transient receptor ion channel II
      sd00045
      Location:146 → 177
      ANK; ANK repeat [structural motif]

    2. XM_017008578.3 → XP_016864067.1  short transient receptor potential channel 3 isoform X2

      UniProtKB/TrEMBL
      J3QTB0

    3. XM_011532217.4 → XP_011530519.1  short transient receptor potential channel 3 isoform X1

      UniProtKB/TrEMBL
      J3QTB0
      Conserved Domains (4) summary
      cd00204
      Location:119 → 253
      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:96 → 906
      trp; transient-receptor-potential calcium channel protein
      pfam08344
      Location:267 → 326
      TRP_2; Transient receptor ion channel II
      sd00045
      Location:146 → 177
      ANK; ANK repeat [structural motif]

    4. XM_047416117.1 → XP_047272073.1  short transient receptor potential channel 3 isoform X5

    5. XM_047416116.1 → XP_047272072.1  short transient receptor potential channel 3 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      125178529..125256098 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350770.1 → XP_054206745.1  short transient receptor potential channel 3 isoform X3

    2. XM_054350769.1 → XP_054206744.1  short transient receptor potential channel 3 isoform X2

    3. XM_054350768.1 → XP_054206743.1  short transient receptor potential channel 3 isoform X1

    4. XM_054350772.1 → XP_054206747.1  short transient receptor potential channel 3 isoform X5

    5. XM_054350771.1 → XP_054206746.1  short transient receptor potential channel 3 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13507.4 GenPept UniProtKB/Swiss-Prot:Q13507

    Gene LinkOut

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

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