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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TRPV5 Gene

protein-coding   GIFtS: 65
GCID: GC07M142606

Transient Receptor Potential Cation Channel, Subfamily V,...

(Previous name: epithelial calcium channel 1)
(Previous symbol: ECAC1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transient Receptor Potential Cation Channel, Subfamily V, Member 51 2     CAT22 5
ECAC11 2 3 5     Calcium Transporter 22
Epithelial Calcium Channel 11 2 3     Transient Receptor Potential Cation Channel Subfamily V Member 52
Calcium Transport Protein 22 3     CaT23
Osm-9-Like TRP Channel 32 3     ECaC13
ECaC2 3     TrpV53
OTRPC32 3     

External Ids:    HGNC: 31451   Entrez Gene: 563022   Ensembl: ENSG000001274127   OMIM: 6066795   UniProtKB: Q9NQA53   

Export aliases for TRPV5 gene to outside databases

Previous GC identifers: GC07M140931 GC07M141999 GC07M142076 GC07M142122 GC07M142315 GC07M136943


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TRPV5 Gene:
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)

GeneCards Summary for TRPV5 Gene: 
TRPV5 (transient receptor potential cation channel, subfamily V, member 5) is a protein-coding gene. Diseases associated with TRPV5 include hypervitaminosis d, and aromatase deficiency, and among its related super-pathways are CREB Pathway. GO annotations related to this gene include calcium channel activity and calmodulin binding. An important paralog of this gene is TRPV6.

UniProtKB/Swiss-Prot: TRPV5_HUMAN, Q9NQA5
Function: Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in
kidney and intestine. The channel is activated by low internal calcium level and the current exhibits an inward
rectification. A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay.
Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers
exhibit voltage-dependent gating (By similarity)

summary for TRPV5 Gene:
Vanilloids are a group of compounds, structurally related to capsaicin, thought to exert their actions via
vanilloid receptors. The vanilloid receptor family (TRPV) is a subgroup of the transient receptor potential
(TRP) superfamily of ion channels, and six members (TRPV1-6) have so far been identified. The six vanilloid
receptor members have been divided into four groups on the basis of structure and function: TRPV1/2, TRPV3,
TRPV4 and TRPV5/6. TRPV1-4 are thermosensitive, non-selective cation channels that exist as tetrameric
complexes. They are activated by a range of stimuli including heat, protons, lipids and changes in
osmolarity or pressure. TRPV5-6 are calcium selective channels that are involved in the absorption and
reabsorption of calcium across intestinal and renal epithelia. It has been proposed that cannabinoids are
endogenous ligands for vanilloid receptors. Furthermore, adenosine has been shown to be an endogenous TRPV1
ligand and TRPV4 is activated by anandamide and arachidonic acid.

Gene Wiki entry for TRPV5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TRPV5 gene promoter:
         NF-1   Tal-1   AML1a   Tal-1beta   E47   HOXA5   FOXJ2 (long isoform)   FOXJ2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRPV5 promoter sequence
   Search SABiosciences Chromatin IP Primers for TRPV5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRPV5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q35   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

TRPV5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPV5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M142606:  view genomic region     (about GC identifiers)

Start:
142,605,267 bp from pter      End:
142,630,905 bp from pter
Size:
25,639 bases      Orientation:
minus strand

2 alternative locations:
Chr7-,CRA_TCAG 142,007,517-142,032,689      Chr7-,NW_003571040 1,111,308-1,136,480     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TRPV5_HUMAN, Q9NQA5 (See protein sequence)
Recommended Name: Transient receptor potential cation channel subfamily V member 5  
Size: 729 amino acids; 82551 Da
Subunit: Homotetramer and probably heterotetramer with TRPV6. Interacts with TRPV6. Interacts with S100A10 and
probably with the ANAX2-S100A10 heterotetramer. The interaction with S100A10 is required for the trafficking to
the plasma membrane. Interacts with calmodulin. Interacts with BSPRY, which results in its inactivation (By
similarity)
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Note=Colocalized with S100A10 and ANAX2
along the apical domain of kidney distal tubular cells (By similarity). The expression of the glycosylated form
in the cell membrane is increased in the presence of WNK3
Secondary accessions: A4D2H7 Q8NDW5 Q8NDX7 Q8NDX8 Q96PM6

Explore the universe of human proteins at neXtProt for TRPV5: NX_Q9NQA5

Explore proteomics data for TRPV5 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQA5

  • TRPV5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TRPV5 Protein Expression
    REFSEQ proteins: NP_062815.2  
    ENSEMBL proteins: 
     ENSP00000265310   ENSP00000406361   ENSP00000406572  

    Human Recombinant Protein Products for TRPV5: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TRPV5 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane IDA15489237
    GO:0016021integral to membrane ----
    GO:0016324apical plasma membrane IEA--

    TRPV5 for ontologies           About GeneDecksing



    TRPV5 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for TRPV5 
    Cloud-Clone Corp. CLIAs for TRPV5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TRP: Voltage-gated ion channels / Transient receptor potential cation channels
    ANKRD: Ankyrin repeat domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPV5 
    Transient Receptor Potential channels

    5/7 InterPro protein domains (see all 7):
     IPR008344 TRPV5/TRPV6_channel
     IPR024862 TRPV_channel
     IPR020683 Ankyrin_rpt-contain_dom
     IPR005821 Ion_trans_dom
     IPR004729 TRP_channel

    Graphical View of Domain Structure for InterPro Entry Q9NQA5

    ProtoNet protein and cluster: Q9NQA5

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: TRPV5_HUMAN, Q9NQA5
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV5 sub-subfamily
    Similarity: Contains 5 ANK repeats


    TRPV5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRPV5_HUMAN, Q9NQA5
    Function: Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in
    kidney and intestine. The channel is activated by low internal calcium level and the current exhibits an inward
    rectification. A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay.
    Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers
    exhibit voltage-dependent gating (By similarity)
    Enzyme regulation: Activated by WNK3

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005262calcium channel activity ISS--
    GO:0005515protein binding IPI16763551
    GO:0005516calmodulin binding IEA--
         
    TRPV5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TRPV5:
     Upregulation of Wnt/beta-caten 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Trpv5):
     behavior/neurological  cellular  digestive/alimentary  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  renal/urinary system  skeleton 

    TRPV5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Trpv5tm1Bind for TRPV5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TRPV5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TRPV5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPV5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPV5 

    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPV5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TRPV5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CREB Pathway
    Intracellular Calcium Signaling0.50
    2Osteoclast Signaling
    Osteoclast Signaling
    3Endocrine and other factor-regulated calcium reabsorption
    Endocrine and other factor-regulated calcium reabsorption
    4Calcium channels
    Calcium channels

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TRPV5
        Calcium channels

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TRPV5
        Intracellular Calcium Signaling

    1 BioSystems Pathway for TRPV5
        Osteoclast Signaling


    1         Kegg Pathway  (Kegg details for TRPV5):
        Endocrine and other factor-regulated calcium reabsorption


    TRPV5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TRPV5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/11 Interacting proteins for TRPV5 (Q9NQA52, 3 ENSP000002653104) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALB1P059372, 3, ENSP000002654314MINT-2834893 MINT-2834584 MINT-2834867 MINT-2834926 I2D: score=2 STRING: ENSP00000265431
    ANXA2P073553, ENSP000003460324I2D: score=1 STRING: ENSP00000346032
    S100A10P609033, ENSP000003577994I2D: score=1 STRING: ENSP00000357799
    USF2Q158533, ENSP000002223054I2D: score=1 STRING: ENSP00000222305
    EWSR1Q018443, ENSP000003810314I2D: score=2 STRING: ENSP00000381031
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006816calcium ion transport TAS15665527
    GO:0051262protein tetramerization ISS--

    TRPV5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TRPV5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for TRPV5 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    HC 067047Potent and selective TRPV4 antagonist[883031-03-6]
    5'-Iodoresiniferatoxin Potent, silent TRPV1 antagonist [535974-91-5]
    CapsazepineVanilloid receptor antagonist. Also activator of ENaCdelta[138977-28-3]
    AMG 9810 Potent and selective, competitive antagonist of TRPV1 [545395-94-6]
    AnandamideEndogenous CB receptor agonist[94421-68-8]

    1 HMDB Compound for TRPV5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    4 IUPHAR Ligands for TRPV5 (TRPV5)    About this table 
    LigandTypeActionAffinityPubmed IDs
    ruthenium red
    Channel blockerNone6.9--
    econazole
    Channel blockerNone6.9--
    Mg2+
    Channel blockerNone6.9--
    miconazole
    Channel blockerNone6.9--

    7 Novoseek inferred chemical compound relationships for TRPV5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    1,25 dihydroxy vitamin d3 61.8 5 15100231 (2), 11741335 (1), 11423563 (1)
    ruthenium 59.3 5 11588099 (2), 19295174 (1), 11744752 (1), 12634930 (1)
    calcium 57.6 96 11352507 (8), 15319523 (5), 12869611 (3), 11549322 (3) (see all 30)
    bapta 54.9 3 11352507 (1), 10660551 (1), 11588099 (1)
    vitamin d 50.9 4 11741335 (2), 17346947 (1), 16650747 (1)
    magnesium 30.8 5 16230466 (4), 11417220 (1)
    aspartate 2.68 2 11352507 (1), 11880255 (1)

    Search CenterWatch for drugs/clinical trials and news about TRPV5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TRPV5 gene: 
    NM_019841.4  

    Unigene Cluster for TRPV5:

    Transient receptor potential cation channel, subfamily V, member 5
    Hs.283369  [show with all ESTs]
    Unigene Representative Sequence: AF304464
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265310(uc003wby.1) ENST00000439304 ENST00000442623(uc003wbz.3)

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    Additional mRNA sequence: 

    AF304464.1 AJ271207.2 AJ487965.2 BC034740.1 

    2 DOTS entries:

    DT.92421847  DT.99941323 

    7 AceView cDNA sequences:

    AF304464 BX281636 NM_019841 AJ487965 AJ271207 BC034740 BI761603 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TRPV5 expression in normal human tissues (normalized intensities)      TRPV5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAATAATGT
    TRPV5 Expression
    About this image


    TRPV5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Kidney (Urinary System)
             Distal Tubule Cells Distal Tubule

    See TRPV5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRPV5

    SOURCE GeneReport for Unigene cluster: Hs.283369

    UniProtKB/Swiss-Prot: TRPV5_HUMAN, Q9NQA5
    Tissue specificity: Expressed at high levels in kidney, small intestine and pancreas, and at lower levels in
    testis, prostate, placenta, brain, colon and rectum

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPV5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TRPV5 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trpv51 , 5 transient receptor potential cation channel, subfamily more1, 5 81.76(n)1
    81.67(a)1
      6 (19.83 cM)5
    1943521  NM_001007572.21  NP_001007573.11 
     416527705 
    chicken
    (Gallus gallus)
    Aves --
    --
    69(a)
    1 → many
    1(77385714-77417888)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    67(a)
    63(a)
    many ↔ many
    many ↔ many
    GL343391.1(246038-283384)
    GL343499.1(35241-159052)
    zebrafish
    (Danio rerio)
    Actinopterygii trpv66
    transient receptor potential cation channel, subfa...
    46(a)
    1 → many
    16(14044291-14069829)
    fruit fly
    (Drosophila melanogaster)
    Insecta nan3 calcium ion transport calcium channel 27(a)   70D3   --
    worm
    (Caenorhabditis elegans)
    Secernentea ocr-43 ankyrin-like protein 30(a)
    (best of 2)
      IV(7329867-7332932)   --


    ENSEMBL Gene Tree for TRPV5 (if available)
    TreeFam Gene Tree for TRPV5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRPV5 gene
    TRPV62  TRPV32  TRPV12  TRPV22  TRPV42  
    5 SIMAP similar genes for TRPV5 using alignment to 3 protein entries:     TRPV5_HUMAN (see all proteins):
    ECAC1    ECAC2    TRPV6    FLJ00078    TRPV4

    TRPV5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/770 SNPs in TRPV5 are shown (see all 770)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs42525121,2
    C,F,H--142605221(-) CACCAA/GCTGCA 1 -- ds500124Minor allele frequency- G:0.07NS EA NA WA 2476
    rs1434159421,2
    --142605314(+) TCCCAC/TGTAAG 1 -- ds50010--------
    rs42525111,2
    C,F,A,H--142605336(-) AGGCTA/TTTCTG 1 -- ds5001 ese318Minor allele frequency- T:0.32NS EA NA WA CSA 894
    rs42525101,2
    C,F,H--142605480(-) CTCACG/ATATTT 1 -- ds5001 ese319Minor allele frequency- A:0.02NS EA NA WA 1428
    rs1471774961,2
    C--142605703(+) CTCTCC/TATCCC 2 R G mis10--------
    rs1387956681,2
    F--142605725(+) TTCAGT/CCCAAG 2 /G syn11Minor allele frequency- C:0.00NA 4552
    rs42525091,2,4
    C,H--142605734(-) CACTTG/CAATCT 2 /F /L mis1 ese38Minor allele frequency- C:0.00NS EA NA 500
    rs1405366681,2
    C--142605741(+) AGTGCC/TCCAGG 2 E G mis11Minor allele frequency- T:0.00NA 4552
    rs1811627671,2
    C--142605774(+) AGCCTC/TGGTGA 2 Q R mis10--------
    rs2004402581,2
    C--142605828(+) GAGCCA/GAAGAG 2 S L mis10--------

    HapMap Linkage Disequilibrium report for TRPV5 (142605267 - 142630905 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for TRPV5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv428187CNV Loss18775914
    nsv520735CNV Loss19592680
    nsv889274CNV Loss21882294
    nsv889286CNV Loss21882294
    nsv526015CNV Gain19592680
    nsv831168CNV Gain17160897
    nsv889285CNV Gain21882294
    dgv2145e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): TRPV5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TRPV5
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPV5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606679    OMIM disorders: --

    11 diseases for TRPV5:    About MalaCards
    hypervitaminosis d    aromatase deficiency    pseudohypoaldosteronism    rickets
    hypercalcemia    crohn's disease    kidney disease    hypertension
    retinitis    leukemia    prostatitis

    1 disease from the University of Copenhagen DISEASES database for TRPV5:
    Hypervitaminosis D

    TRPV5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TRPV5
    Human Genome Epidemiology (HuGE) Navigator: TRPV5 (3 documents)

    Export disorders for TRPV5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TRPV5 gene, integrated from 9 sources (see all 94):
    (articles sorted by number of sources associating them with TRPV5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial calcium channel (ECAC1). (PubMed id 10945469)1, 2, 3, 9 Mueller D.... Bindels R.J.M. (2000)
    2. Structural conservation of the genes encoding CaT1, CaT2, and related cation channels. (PubMed id 11549322)1, 2, 9 Peng J.-B.... Hediger M.A. (2001)
    3. Gene structure and chromosomal mapping of human epithelial calcium channel. (PubMed id 10944439)1, 3, 9 Muller D.... Bindels R.J. (2000)
    4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    5. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)1, 3 Clapham D.E....Schultz G. (2005)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    7. TRPV5 gene polymorphisms in renal hypercalciuria. (PubMed id 19131347)1, 9 Renkema K.Y....Hoenderop J.G. (2009)
    8. WNK4 regulates the secretory pathway via which TRPV5 is targeted to the plasma membrane. (PubMed id 18703016)1, 9 Jiang Y....Peng J.B. (2008)
    9. Molecular determinants in TRPV5 channel assembly. (PubMed id 15489237)1, 9 Chang Q....Hoenderop J.G. (2004)
    10. Expression of transient receptor potential vanilloid channels TRPV5 and TRPV6 in retinal pigment epithelium. (PubMed id 20405023)1, 9 Kennedy B.G....Mangini N.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56302 HGNC: 3145 AceView: TRPV5 Ensembl:ENSG00000127412 euGenes: HUgn56302
    ECgene: TRPV5 Kegg: 56302 H-InvDB: TRPV5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TRPV5 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/trpv5/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TRPV5 gene:
    Search GeneIP for patents involving TRPV5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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