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    TRPV2 transient receptor potential cation channel subfamily V member 2 [ Homo sapiens (human) ]

    Gene ID: 51393, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TRPV2provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily V member 2provided by HGNC
    Primary source
    HGNC:HGNC:18082
    See related
    Ensembl:ENSG00000187688 MIM:606676; AllianceGenome:HGNC:18082
    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
    VRL; VRL1; VRL-1
    Summary
    This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lung (RPKM 13.6), spleen (RPKM 9.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRPV2 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16415571..16437003)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16317872..16339304)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16318885..16340317)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr17.878 Neighboring gene ferritin light chain pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11758 Neighboring gene uncharacterized LOC124904150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16329088-16329588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16339567-16340199 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16340803-16341704 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16341705-16342604 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16342605-16343506 Neighboring gene small nucleolar RNA, C/D box 49B Neighboring gene small nucleolar RNA, C/D box 49A Neighboring gene small nucleolar RNA host gene 29

    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. Phagocytosis depends on TRPV2-mediated calcium influx and requires TRPV2 in lipids rafts: alteration in macrophages from patients with cystic fibrosis. Lévêque M, et al. Sci Rep, 2018 Mar 9. PMID 29523858, Free PMC Article
    2. The Effects of Cannabidiol and Prognostic Role of TRPV2 in Human Endometrial Cancer. Marinelli O, et al. Int J Mol Sci, 2020 Jul 29. PMID 32751388, Free PMC Article
    3. Clinical significance of transient receptor potential vanilloid 2 expression in human hepatocellular carcinoma. Liu G, et al. Cancer Genet Cytogenet, 2010 Feb. PMID 20113837
    4. Ca2+-dependent desensitization of TRPV2 channels is mediated by hydrolysis of phosphatidylinositol 4,5-bisphosphate. Mercado J, et al. J Neurosci, 2010 Oct 6. PMID 20926660, Free PMC Article
    5. The expression and role of TRPV2 in esophageal squamous cell carcinoma. Kudou M, et al. Sci Rep, 2019 Nov 5. PMID 31690728, Free PMC Article

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tyrosine phosphorylation and palmitoylation of TRPV2 ion channel tune microglial beta-amyloid peptide phagocytosis.
      Title: Tyrosine phosphorylation and palmitoylation of TRPV2 ion channel tune microglial beta-amyloid peptide phagocytosis.
    2. TRPV2: a universal regulator in cellular physiology with a yet poorly defined thermosensitivity.
      Title: TRPV2: a universal regulator in cellular physiology with a yet poorly defined thermosensitivity.
    3. TCAF1 promotes TRPV2-mediated Ca[2+] release in response to cytosolic DNA to protect stressed replication forks.
      Title: TCAF1 promotes TRPV2-mediated Ca(2+) release in response to cytosolic DNA to protect stressed replication forks.
    4. TRPV2 modulates mechanically Induced ATP Release from Human bronchial epithelial cells.
      Title: TRPV2 modulates mechanically Induced ATP Release from Human bronchial epithelial cells.
    5. Ion channel TRPV2 is critical in enhancing B cell activation and function.
      Title: Ion channel TRPV2 is critical in enhancing B cell activation and function.
    6. Effects of TRPV2 on the Expression of PD-L1 and Its Binding Ability to PD-1 in Gastric Cancer.
      Title: Effects of TRPV2 on the Expression of PD-L1 and Its Binding Ability to PD-1 in Gastric Cancer.
    7. TRPV2, a novel player in the human ovary and human granulosa cells.
      Title: TRPV2, a novel player in the human ovary and human granulosa cells.
    8. The mechanosensitive TRPV2 calcium channel promotes human melanoma invasiveness and metastatic potential.
      Title: The mechanosensitive TRPV2 calcium channel promotes human melanoma invasiveness and metastatic potential.
    9. Hypo-osmolarity induces apoptosis resistance via TRPV2-mediated AKT-Bcl-2 pathway.
      Title: Hypo-osmolarity induces apoptosis resistance via TRPV2-mediated AKT-Bcl-2 pathway.
    10. Impact of the TRPV2 Inhibitor on Advanced Heart Failure in Patients with Muscular Dystrophy: Exploratory Study of Biomarkers Related to the Efficacy of Tranilast.
      Title: Impact of the TRPV2 Inhibitor on Advanced Heart Failure in Patients with Muscular Dystrophy: Exploratory Study of Biomarkers Related to the Efficacy of Tranilast.
    Submit: New GeneRIF Correction See all GeneRIFs (70)

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of transient receptor potential cation channel V, member 2 (TRPV2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC12549

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables monoatomic cation channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables monoatomic ion channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables monoatomic ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of axon extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of calcium ion import IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    acts_upstream_of_or_within response to temperature stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sensory perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axonal growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in growth cone membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in melanosome 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 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
    transient receptor potential cation channel subfamily V member 2
    Names
    OTRPC2
    osm-9-like TRP channel 2
    vanilloid receptor-like protein 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_016113.5 → NP_057197.2  transient receptor potential cation channel subfamily V member 2

      See identical proteins and their annotated locations for NP_057197.2

      Status: REVIEWED

      Source sequence(s)
      AK289705, BC018926
      Consensus CDS
      CCDS32576.1
      UniProtKB/Swiss-Prot
      A6NML2, A8K0Z0, Q9Y5S1, Q9Y670
      Related
      ENSP00000342222.7, ENST00000338560.12
      Conserved Domains (3) summary
      cd00204
      Location:163 → 314
      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:27 → 764
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:162 → 193
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      16415571..16437003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721541.5 → XP_006721604.1  transient receptor potential cation channel subfamily V member 2 isoform X2

      Conserved Domains (3) summary
      cd00204
      Location:163 → 314
      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:27 → 732
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:162 → 193
      ANK; ANK repeat [structural motif]

    2. XM_011523922.3 → XP_011522224.1  transient receptor potential cation channel subfamily V member 2 isoform X3

      Conserved Domains (3) summary
      cd00204
      Location:163 → 314
      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:27 → 705
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:162 → 193
      ANK; ANK repeat [structural motif]

    3. XM_006721543.5 → XP_006721606.1  transient receptor potential cation channel subfamily V member 2 isoform X5

      See identical proteins and their annotated locations for XP_006721606.1

      Conserved Domains (5) summary
      cd00204
      Location:163 → 314
      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 ...
      pfam00520
      Location:452 → 652
      Ion_trans; Ion transport protein
      pfam12796
      Location:114 → 192
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:163 → 229
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:162 → 193
      ANK; ANK repeat [structural motif]

    4. XM_047436217.1 → XP_047292173.1  transient receptor potential cation channel subfamily V member 2 isoform X5

    5. XM_005256677.3 → XP_005256734.1  transient receptor potential cation channel subfamily V member 2 isoform X7

      See identical proteins and their annotated locations for XP_005256734.1

      Conserved Domains (3) summary
      cd00204
      Location:163 → 314
      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:27 → 630
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:162 → 193
      ANK; ANK repeat [structural motif]

    6. XM_017024732.3 → XP_016880221.1  transient receptor potential cation channel subfamily V member 2 isoform X9

    7. XM_005256676.3 → XP_005256733.1  transient receptor potential cation channel subfamily V member 2 isoform X1

      See identical proteins and their annotated locations for XP_005256733.1

      Conserved Domains (3) summary
      cd00204
      Location:163 → 314
      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:27 → 763
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:162 → 193
      ANK; ANK repeat [structural motif]

    8. XM_047436216.1 → XP_047292172.1  transient receptor potential cation channel subfamily V member 2 isoform X4

    9. XM_017024730.3 → XP_016880219.1  transient receptor potential cation channel subfamily V member 2 isoform X6

    10. XM_017024731.3 → XP_016880220.1  transient receptor potential cation channel subfamily V member 2 isoform X8

    11. XM_011523923.3 → XP_011522225.1  transient receptor potential cation channel subfamily V member 2 isoform X12

      Conserved Domains (4) summary
      cd00204
      Location:163 → 314
      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 ...
      pfam12796
      Location:114 → 192
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:163 → 229
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:162 → 193
      ANK; ANK repeat [structural motif]

    12. XM_047436219.1 → XP_047292175.1  transient receptor potential cation channel subfamily V member 2 isoform X11

    13. XM_005256678.6 → XP_005256735.1  transient receptor potential cation channel subfamily V member 2 isoform X10

      Conserved Domains (4) summary
      cd00204
      Location:163 → 314
      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 ...
      pfam12796
      Location:114 → 192
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:163 → 229
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:162 → 193
      ANK; ANK repeat [structural motif]

    14. XM_047436220.1 → XP_047292176.1  transient receptor potential cation channel subfamily V member 2 isoform X13

    15. XM_011523925.3 → XP_011522227.1  transient receptor potential cation channel subfamily V member 2 isoform X14

      UniProtKB/TrEMBL
      B3KMH7
      Conserved Domains (1) summary
      pfam00520
      Location:22 → 222
      Ion_trans; Ion transport protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      16317872..16339304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316379.1 → XP_054172354.1  transient receptor potential cation channel subfamily V member 2 isoform X2

    2. XM_054316380.1 → XP_054172355.1  transient receptor potential cation channel subfamily V member 2 isoform X3

    3. XM_054316383.1 → XP_054172358.1  transient receptor potential cation channel subfamily V member 2 isoform X5

    4. XM_054316382.1 → XP_054172357.1  transient receptor potential cation channel subfamily V member 2 isoform X5

    5. XM_054316385.1 → XP_054172360.1  transient receptor potential cation channel subfamily V member 2 isoform X7

    6. XM_054316387.1 → XP_054172362.1  transient receptor potential cation channel subfamily V member 2 isoform X9

    7. XM_054316378.1 → XP_054172353.1  transient receptor potential cation channel subfamily V member 2 isoform X1

    8. XM_054316381.1 → XP_054172356.1  transient receptor potential cation channel subfamily V member 2 isoform X4

    9. XM_054316384.1 → XP_054172359.1  transient receptor potential cation channel subfamily V member 2 isoform X6

    10. XM_054316386.1 → XP_054172361.1  transient receptor potential cation channel subfamily V member 2 isoform X8

    11. XM_054316390.1 → XP_054172365.1  transient receptor potential cation channel subfamily V member 2 isoform X12

    12. XM_054316389.1 → XP_054172364.1  transient receptor potential cation channel subfamily V member 2 isoform X11

    13. XM_054316388.1 → XP_054172363.1  transient receptor potential cation channel subfamily V member 2 isoform X10

    14. XM_054316391.1 → XP_054172366.1  transient receptor potential cation channel subfamily V member 2 isoform X13

    15. XM_054316392.1 → XP_054172367.1  transient receptor potential cation channel subfamily V member 2 isoform X14

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5S1.1 GenPept UniProtKB/Swiss-Prot:Q9Y5S1

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