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    TRPV5 transient receptor potential cation channel subfamily V member 5 [ Homo sapiens (human) ]

    Gene ID: 56302, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TRPV5provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily V member 5provided by HGNC
    Primary source
    HGNC:HGNC:3145
    See related
    Ensembl:ENSG00000127412 MIM:606679; AllianceGenome:HGNC:3145
    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
    CAT2; ECAC1; OTRPC3
    Summary
    This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    See TRPV5 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142908101..142933746, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144263556..144289165, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142605267..142630843, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene EPH receptor B6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:142564181-142564714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:142564989-142565924 Neighboring gene transient receptor potential cation channel subfamily V member 6 Neighboring gene Sharpr-MPRA regulatory region 15349 Neighboring gene MPRA-validated peak6804 silencer Neighboring gene uncharacterized LOC105375542 Neighboring gene LLLL and CFNLAS motif containing 1

    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. TRPV5: an ingeniously controlled calcium channel. de Groot T, et al. Kidney Int, 2008 Nov. PMID 18596722
    2. The epithelial calcium channel TRPV5 is regulated differentially by klotho and sialidase. Leunissen EH, et al. J Biol Chem, 2013 Oct 11. PMID 23970553, Free PMC Article
    3. Urinary plasmin inhibits TRPV5 in nephrotic-range proteinuria. Tudpor K, et al. J Am Soc Nephrol, 2012 Nov. PMID 23024298, Free PMC Article
    4. Tissue transglutaminase inhibits the TRPV5-dependent calcium transport in an N-glycosylation-dependent manner. Boros S, et al. Cell Mol Life Sci, 2012 Mar. PMID 21952826, Free PMC Article
    5. A helix-breaking mutation in the epithelial Ca(2+) channel TRPV5 leads to reduced Ca(2+)-dependent inactivation. Lee KP, et al. Cell Calcium, 2010 Nov. PMID 21035851, Free PMC Article

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The ion channel TRPV5 regulates B-cell signaling and activation.
      Title: The ion channel TRPV5 regulates B-cell signaling and activation.
    2. Alterations in the microenvironment and the effects produced of TRPV5 in osteoporosis.
      Title: Alterations in the microenvironment and the effects produced of TRPV5 in osteoporosis.
    3. Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.
      Title: Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.
    4. Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.
      Title: Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.
    5. TRPV5 in renal tubular calcium handling and its potential relevance for nephrolithiasis.
      Title: TRPV5 in renal tubular calcium handling and its potential relevance for nephrolithiasis.
    6. cryoelectron microscopic analysis of the structural basis for TRPV5 channel inhibition by econazole
      Title: Structural basis of TRPV5 channel inhibition by econazole revealed by cryo-EM.
    7. rs4252424 was significantly associated with lead poisoning susceptibility, measured by blood lead level in Chinese workers.
      Title: Association between single nucleotide polymorphism (rs4252424) in TRPV5 calcium channel gene and lead poisoning in Chinese workers.
    8. TRPV5 and TRPV6 lack a positively charged residue in the TM4-TM5 loop that was shown to interact with PI(4,5)P2 in TRPV1, which shows high affinity for this lipid
      Title: A molecular determinant of phosphoinositide affinity in mammalian TRPV channels.
    9. The alterations may lead to misfolding of TRPV5, reduction in translocation of the channel to the plasma membrane and/or impaired Ca(2+) transport function of the channel, and ultimately disrupt TRPV5-mediated Ca(2+) reabsorption.
      Title: The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.
    10. These findings indicate that the A563T variation induces structural, dynamical, and electrostatic changes in the TRPV5 pore, providing structural insight into the functional alterations associated with the A563T variation.
      Title: Molecular Modeling of the Structural and Dynamical Changes in Calcium Channel TRPV5 Induced by the African-Specific A563T Variation.
    Submit: New GeneRIF Correction See all GeneRIFs (49)

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in calcium ion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein homotetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of urine volume ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    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 5
    Names
    calcium transport protein 2
    calcium transporter 2
    epithelial calcium channel 1
    osm-9-like TRP channel 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_046912.1 RefSeqGene

      Range
      4978..30623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_019841.7 → NP_062815.3  transient receptor potential cation channel subfamily V member 5

      Status: REVIEWED

      Source sequence(s)
      AC245427, AF304464, BC034740
      Consensus CDS
      CCDS5875.1
      UniProtKB/Swiss-Prot
      A0A0A6YY98, A4D2H7, E9PBZ6, Q8N4C1, Q8NDW5, Q8NDX7, Q8NDX8, Q96PM6, Q9NQA5
      UniProtKB/TrEMBL
      H7C2J6
      Related
      ENSP00000265310.1, ENST00000265310.6
      Conserved Domains (3) summary
      sd00045
      Location:117 → 147
      ANK; ANK repeat [structural motif]
      cd22192
      Location:29 → 637
      TRPV5-6; Transient Receptor Potential channel, Vanilloid subfamily (TRPV), types 5 and 6
      cd22296
      Location:649 → 725
      CBD_TRPV5_C; C-terminal CaM binding domain found in transient receptor potential cation channel subfamily V member 5 (TRPV5) and similar proteins

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      142908101..142933746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      931168..956813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      144263556..144289165 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQA5.3 GenPept UniProtKB/Swiss-Prot:Q9NQA5

    Gene LinkOut

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

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