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TRPV5 Gene

protein-coding   GIFtS: 66
GCID: GC07M142606

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

(Previous name: epithelial calcium channel 1)
(Previous symbol: ECAC1)
  See TRPV5-related diseases
at
MalaCards
 

Aliases
for TRPV5 gene

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


Summaries
for TRPV5 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 aromatase deficiency, and hypervitaminosis d. 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


Genomic Views
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  NT_187562.1  
Regulatory elements:
   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 plasmid: TRPV5 promoter sequence
   Search Chromatin IP Primers for TRPV5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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-,NW_003571040 1,111,308-1,136,480      Chr7-,CRA_TCAG 142,007,517-142,032,689     

Proteins
for TRPV5 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Glycosylated1
  • Glycosylation2 at Asn358
  • Modification sites at PhosphoSitePlus

    • See TRPV5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_062815.2  
    ENSEMBL proteins: 
     ENSP00000265310   ENSP00000406361   ENSP00000406572  
    Reactome Protein details: Q9NQA5

    TRPV5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TRPV5

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         		antibodies-online proteins for TRPV5 (2 products) 

         		antibodies-online peptides for TRPV5

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    TRPV5 Assay Products:

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    Search eBioscience for ELISAs for TRPV5 
    antibodies-online kits for TRPV5 (8 products) 

    Domains /
    Families
    for TRPV5 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 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

    Selected InterPro protein domains (see all 7):
     IPR024862 TRPV
     IPR005821 Ion_trans_dom
     IPR004729 TRP_channel
     IPR008346 TRPV5
     IPR002110 Ankyrin_rpt

    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


    Find genes that share domains with TRPV5           About GenesLikeMe


    Function
    for TRPV5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with TRPV5           About GenesLikeMe


    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/body  hematopoietic system 
     homeostasis/metabolism  immune system  renal/urinary system  skeleton 

    Find genes that share phenotypes with TRPV5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Trpv5tm1Bind for TRPV5

       genOway: Develop your customized and physiologically relevant rodent model for TRPV5

    miRNA
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    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPV5

    Cell Line
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    In Situ Assay
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    Localization
    for TRPV5 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRPV5_HUMAN, Q9NQA5: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    peroxisome2
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA15489237
    GO:0016021integral component of membrane ----
    GO:0016324apical plasma membrane IEA--

    Find genes that share ontologies with TRPV5           About GenesLikeMe


    Pathways & Interactions
    for TRPV5 gene

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TRPV5 About   (see all 6)  
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Ion channel transport
    		Ion channel transport0.58
    		Stimuli-sensing channels0.58
    2CREB Pathway
    		Intracellular Calcium Signaling0.50
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    		Transmembrane transport of small molecules0.47
    4TRP channels
    		TRP channels
    5Osteoclast Signaling
    		Osteoclast Signaling


    Find genes that share SuperPaths with TRPV5           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for TRPV5
        Osteoclast Signaling

    1 Reactome Pathway for TRPV5
        TRP channels


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TRPV5
    Interactions:

        GeneGlobe Interaction Network for TRPV5

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

    Selected Interacting proteins for TRPV5 (Q9NQA51, 2, 3 ENSP000002653104) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALB1P059371, 2, 3, ENSP000002654314EBI-1053443,EBI-4286943 MINT-2834893 MINT-2834584 MINT-2834867 MINT-2834926 I2D: score=2 STRING: ENSP00000265431
    ANXA2P073553, ENSP000003460324I2D: score=1 STRING: ENSP00000346032
    S100A10P609033, ENSP000003577994I2D: score=1 STRING: ENSP00000357799
    SLC9A3R2Q155993, ENSP000004080054I2D: score=1 STRING: ENSP00000408005
    USF2Q158533, ENSP000002223054I2D: score=1 STRING: ENSP00000222305
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006816calcium ion transport TAS15665527
    GO:0034220ion transmembrane transport TAS--
    GO:0051262protein tetramerization ISS--
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with TRPV5           About GenesLikeMe



    Drugs & Compounds
    for TRPV5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with TRPV5           About GenesLikeMe



    Transcripts
    for TRPV5 gene

    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TRPV5 gene: 
    NM_019841.5  

    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:

    NM_019841 BX281636 AF304464 AJ271207 AJ487965 BC034740 BI761603 

    GeneLoc Exon Structure


    Expression
    for TRPV5 gene

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TRPV5 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Distal Tubule Cells Distal Tubule
     
     Kidney (Urinary System)
             Distal Tubule Cells Distal Tubule
    TRPV5 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    TRPV5 Protein Expression

    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
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    Orthologs
    for TRPV5 gene

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TRPV5 gene from Selected 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 V, member 5 less1, 5 81.71(n)1
    81.67(a)1    		   6 (19.83 cM)5
    1943521  NM_001007572.21  NP_001007573.11 
     416527705 
    chicken
    (Gallus gallus)    		 Aves --
    		 Uncharacterized protein
    		 69(a)
    		 1 → many
    		 1(77385714-77417888)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 Uncharacterized protein
    		 68(a)
    65(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) ENSDARG00000014496
    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
    for TRPV5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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

    Find genes that share paralogs with TRPV5           About GenesLikeMe



    Genomic Variants
    for TRPV5 gene

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TRPV5 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRPV5
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPV5

    Disorders / Diseases
    for TRPV5 gene

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

    3 diseases for TRPV5:    
    About MalaCards
    aromatase deficiency    hypervitaminosis d    pseudohypoaldosteronism type ii

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

    Find genes that share disorders with TRPV5           About GenesLikeMe

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

    Export disorders for TRPV5 gene to outside databases

    Publications
    for TRPV5 gene

    (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)
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    PubMed articles for TRPV5 gene, integrated from 10 sources (see all 96):
    (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. (Genomics 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. (Genomics 2001)
    3. Gene structure and chromosomal mapping of human epithelial calcium channel. (PubMed id 10944439)1, 3, 9 Muller D.... Bindels R.J. (Biochem. Biophys. Res. Commun. 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. (J. Bone Miner. Res. 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. (Pharmacol. Rev. 2005)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    7. TRPV5 gene polymorphisms in renal hypercalciuria. (PubMed id 19131347)1, 9 Renkema K.Y....Hoenderop J.G. (Nephrol. Dial. Transplant. 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. (Biochem. Biophys. Res. Commun. 2008)
    9. Molecular determinants in TRPV5 channel assembly. (PubMed id 15489237)1, 9 Chang Q....Hoenderop J.G. (J. Biol. Chem. 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. (Mol. Vis. 2010)

    External Searches for TRPV5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing TRPV5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 56302 HGNC: 3145 AceView: TRPV5 Ensembl:ENSG00000127412 euGenes: HUgn56302
    ECgene: TRPV5 Kegg: 56302 H-InvDB: TRPV5

    Other Databases showing TRPV5 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing TRPV5 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TRPV5 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/trpv5/

    Intellectual Property
    for TRPV5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		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



    Products
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    Advanced Cell Diagnostics, Animal models from genOway)
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