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    TRPV6 transient receptor potential cation channel subfamily V member 6 [ Homo sapiens (human) ]

    Gene ID: 55503, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TRPV6provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily V member 6provided by HGNC
    Primary source
    HGNC:HGNC:14006
    See related
    Ensembl:ENSG00000165125 MIM:606680; AllianceGenome:HGNC:14006
    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
    CAT1; CATL; ZFAB; ECAC2; ABP/ZF; HRPTTN; LP6728; HSA277909
    Summary
    This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
    Expression
    Biased expression in prostate (RPKM 26.0), salivary gland (RPKM 21.3) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRPV6 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 (142871208..142885745, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144227023..144241552, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142568961..142583490, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375541 Neighboring gene CRISPRi-validated cis-regulatory element chr7.5168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:142564181-142564714 Neighboring gene EPH receptor B6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:142564989-142565924 Neighboring gene Sharpr-MPRA regulatory region 15349 Neighboring gene MPRA-validated peak6804 silencer Neighboring gene transient receptor potential cation channel subfamily V member 5 Neighboring gene uncharacterized LOC105375542

    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. Derived (mutated)-types of TRPV6 channels elicit greater Ca²+ influx into the cells than ancestral-types of TRPV6: evidence from Xenopus oocytes and mammalian cell expression system. Sudo Y, et al. J Pharmacol Sci, 2010. PMID 20948163
    2. The role of TRPV6 in breast carcinogenesis. Bolanz KA, et al. Mol Cancer Ther, 2008 Feb. PMID 18245667
    3. Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. Suzuki Y, et al. Hum Mol Genet, 2008 Jun 1. PMID 18276610
    4. Parallel selection on TRPV6 in human populations. Hughes DA, et al. PLoS One, 2008 Feb 27. PMID 18301763, Free PMC Article
    5. Rapid effects of 17beta-estradiol on epithelial TRPV6 Ca2+ channel in human T84 colonic cells. Irnaten M, et al. Cell Calcium, 2008 Nov. PMID 18395250

    See all (139) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An overlooked African gene variant linked to the calcium selective channel TRPV6: A mini-review.
      Title: An overlooked African gene variant linked to the calcium selective channel TRPV6: A mini-review.
    2. The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
      Title: The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
    3. Biochemistry and pathophysiology of the Transient Potential Receptor Vanilloid 6 (TRPV6) calcium channel.
      Title: Biochemistry and pathophysiology of the Transient Potential Receptor Vanilloid 6 (TRPV6) calcium channel.
    4. Vital but vulnerable: Human TRPV6 is a trade-off of powerful Ca(2+) uptake and susceptibility to epithelial barrier dysfunction.
      Title: Vital but vulnerable: Human TRPV6 is a trade-off of powerful Ca(2+) uptake and susceptibility to epithelial barrier dysfunction.
    5. TRPV6 Regulation by Cis-22a and Cholesterol.
      Title: TRPV6 Regulation by Cis-22a and Cholesterol.
    6. TRPV6 channel mediates alcohol-induced gut barrier dysfunction and systemic response.
      Title: TRPV6 channel mediates alcohol-induced gut barrier dysfunction and systemic response.
    7. Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
      Title: Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
    8. Down-regulation of TRPV6 Is Associated With Adverse Prognosis in Hepatocellular Carcinoma Treated With Curative Resection.
      Title: Down-regulation of TRPV6 Is Associated With Adverse Prognosis in Hepatocellular Carcinoma Treated With Curative Resection.
    9. Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
      Title: Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
    10. Calcium selective channel TRPV6: Structure, function, and implications in health and disease.
      Title: Calcium selective channel TRPV6: Structure, function, and implications in health and disease.
    Submit: New GeneRIF Correction See all GeneRIFs (113)

    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
    Hyperparathyroidism, transient neonatal
    MedGen: C1300287 OMIM: 618188 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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of transient receptor potential cation channel, subfamily V, member 6 (TRPV6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 TAS
    Traceable Author Statement
    more info
    		  
    enables calmodulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein 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 import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium ion transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in parathyroid hormone secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of calcium ion-dependent exocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of calcium channel complex 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transient receptor potential cation channel subfamily V member 6
    Names
    Alu-binding protein with zinc finger domain
    calcium transport protein 1
    calcium transporter-like protein
    epithelial apical membrane calcium transporter/channel CaT1
    epithelial calcium channel 2

    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_050669.2 RefSeqGene

      Range
      5000..19537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018646.6 → NP_061116.5  transient receptor potential cation channel subfamily V member 6

      See identical proteins and their annotated locations for NP_061116.5

      Status: REVIEWED

      Source sequence(s)
      AC245427
      Consensus CDS
      CCDS5874.2
      UniProtKB/Swiss-Prot
      A4D2I8, Q8TDL3, Q8WXR8, Q96LC5, Q9H1D0, Q9H1D1, Q9H296
      UniProtKB/TrEMBL
      A0A1X7SBT1
      Related
      ENSP00000352358.5, ENST00000359396.9
      Conserved Domains (3) summary
      cd00204
      Location:119 → 242
      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:52 → 698
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:156 → 187
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      142871208..142885745 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
      894250..908785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      144227023..144241552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014274.3: Suppressed sequence

      Description
      NM_014274.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1D0.3 GenPept UniProtKB/Swiss-Prot:Q9H1D0

    Gene LinkOut

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

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