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

TRPV6 Gene

protein-coding   GIFtS: 66
GCID: GC07M142568

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

(Previous name: epithelial calcium channel 2)
(Previous symbol: ECAC2)
  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 61 2     Alu-Binding Protein With Zinc Finger Domain2
ECAC21 2 3 5     Calcium Transporter-Like Protein2
Epithelial Calcium Channel 21 2 3     Epithelial Apical Membrane Calcium Transporter/Channel CaT12
Calcium Transport Protein 12 3     Transient Receptor Potential Cation Channel Subfamily V Member 62
CAT12 5     CaT-L3
CATL2 5     CaT-like3
ABP/ZF2     CaT13
HSA2779092     ECaC23
LP67282     TrpV63
ZFAB2     

External Ids:    HGNC: 140061   Entrez Gene: 555032   Ensembl: ENSG000001651257   OMIM: 6066805   UniProtKB: Q9H1D03   

Export aliases for TRPV6 gene to outside databases

Previous GC identifers: GC07U990280 GC07M140894 GC07M141963 GC07M142039 GC07M142085 GC07M142279 GC07M136907


(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 TRPV6 Gene:
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. 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, Jul
2013)

GeneCards Summary for TRPV6 Gene: 
TRPV6 (transient receptor potential cation channel, subfamily V, member 6) is a protein-coding gene. Diseases associated with TRPV6 include duodenum cancer, and hypervitaminosis d, and among its related super-pathways are TCR signaling in naive CD8+ T cells and CREB Pathway. GO annotations related to this gene include calcium channel activity and calmodulin binding. An important paralog of this gene is TRPV5.

UniProtKB/Swiss-Prot: TRPV6_HUMAN, Q9H1D0
Function: Calcium selective cation channel probably involved in Ca(2+) uptake in various tissues, including Ca(2+)
reabsorption in intestine. The channel is activated by low internal calcium level, probably including
intracellular calcium store depletion, and the current exhibits an inward rectification. Inactivation includes
both, a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism, the latter may be regulated by
phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly
with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent
gating (By similarity)

summary for TRPV6 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 TRPV6 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  NT_007914.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TRPV6 gene promoter:
         SRF   AML1a   SRF (504 AA)   MEF-2   AP-4   MEF-2A   AREB6   aMEF-2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TRPV6 promoter sequence
   Search SABiosciences Chromatin IP Primers for TRPV6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRPV6


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

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

TRPV6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPV6 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M142568:  view genomic region     (about GC identifiers)

Start:
142,568,956 bp from pter      End:
142,583,507 bp from pter
Size:
14,552 bases      Orientation:
minus strand

2 alternative locations:
Chr7-,CRA_TCAG 141,970,824-141,985,342      Chr7-,NW_003571040 1,074,320-1,088,843     

(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: TRPV6_HUMAN, Q9H1D0 (See protein sequence)
Recommended Name: Transient receptor potential cation channel subfamily V member 6  
Size: 725 amino acids; 83210 Da
Subunit: Homotetramer and probably heterotetramer with TRPV5. Interacts with TRPV5. 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 BSPRY (By similarity). Interacts with calmodulin
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: A4D2I8 Q8TDL3 Q8WXR8 Q96LC5 Q9H1D1 Q9H296
Alternative splicing: 2 isoforms:  Q9H1D0-1   Q9H1D0-2   

Explore the universe of human proteins at neXtProt for TRPV6: NX_Q9H1D0

Explore proteomics data for TRPV6 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated (By similarity)
  • UniProtKB: Phosphorylation at Tyr-161 by SRC leads to an increased calcium influx through the channel. Probably
    dephosphorylated at this site by PTPN1 (By similarity). Phosphorylation by PRKCA at the calmodulin binding site
    delays channel inactivation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H1D0

  • TRPV6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TRPV6 Protein Expression
    REFSEQ proteins: NP_061116.3  
    ENSEMBL proteins: 
     ENSP00000352358   ENSP00000411100   ENSP00000415917  

    Human Recombinant Protein Products for TRPV6: 
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    Novus Biologicals TRPV6 Proteins
    Novus Biologicals TRPV6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TRPV6 

    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 TAS11278579
    GO:0016020membrane ----
    GO:0016021integral to membrane ----

    TRPV6 for ontologies           About GeneDecksing



    TRPV6 Antibody Products: 
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    (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: TRPV6 
    Transient Receptor Potential channels

    5/7 InterPro protein domains (see all 7):
     IPR008344 TRPV5/TRPV6_channel
     IPR024862 TRPV_channel
     IPR008345 TRPV6_channel
     IPR020683 Ankyrin_rpt-contain_dom
     IPR005821 Ion_trans_dom

    Graphical View of Domain Structure for InterPro Entry Q9H1D0

    ProtoNet protein and cluster: Q9H1D0

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: TRPV6_HUMAN, Q9H1D0
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV6 sub-subfamily
    Similarity: Contains 6 ANK repeats


    TRPV6 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: TRPV6_HUMAN, Q9H1D0
    Function: Calcium selective cation channel probably involved in Ca(2+) uptake in various tissues, including Ca(2+)
    reabsorption in intestine. The channel is activated by low internal calcium level, probably including
    intracellular calcium store depletion, and the current exhibits an inward rectification. Inactivation includes
    both, a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism, the latter may be regulated by
    phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly
    with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent
    gating (By similarity)

         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 IDA15184369
    GO:0005515protein binding IPI15894168
    GO:0005516calmodulin binding IDA11278579
         
    TRPV6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TRPV6:
     Increased G2M DNA content  Upregulation of Wnt/beta-caten 

         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Trpv6):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     immune system  integument  no phenotypic analysis  renal/urinary system  reproductive system 
     skeleton 

    TRPV6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TRPV6: Ephb6/Trpv6Ephb6/tm2.1Mfre Ephb6/Trpv6Ephb6/tm1Mhed Ephb6/Trpv6Ephb6/tm1.2Mfre

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TRPV6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TRPV6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPV6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPV6 

    miRNA
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    hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372 hsa-miR-93 hsa-miR-520d-3p
    SwitchGear 3'UTR luciferase reporter plasmidTRPV6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPV6


    (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 TRPV6 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD4+ T cells0.64
    TCR signaling in naive CD8+ T cells0.64
    2CREB Pathway
    Intracellular Calcium Signaling0.50
    3Gastric acid secretion
    Salivary secretion0.34
    4Signaling events mediated by PTP1B
    Signaling events mediated by PTP1B
    5Mineral absorption
    Mineral absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TRPV6
        Calcium channels

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TRPV6
        Intracellular Calcium Signaling

    3 BioSystems Pathways for TRPV6
        Signaling events mediated by PTP1B
    TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells


    2         Kegg Pathways  (Kegg details for TRPV6):
        Salivary secretion
    Mineral absorption


    TRPV6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TRPV6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/16 Interacting proteins for TRPV6 (Q9H1D02, 3 ENSP000003523584) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN1P180312, 3, ENSP000003606834MINT-6765232 MINT-6765208 MINT-6764676 MINT-6764665 MINT-6764687 MINT-6765197 I2D: score=2 STRING: ENSP00000360683
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    CALB1P059372, 3, ENSP000002654314MINT-2834911 I2D: score=2 STRING: ENSP00000265431
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006816calcium ion transport NAS11278579
    GO:0017158regulation of calcium ion-dependent exocytosis NAS11278579
    GO:0055085transmembrane transport ----

    TRPV6 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

    TRPV6 for compounds           About GeneDecksing

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

    Compounds for TRPV6 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 TRPV6    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    5 IUPHAR Ligands for TRPV6 (TRPV6)    About this table 
    LigandTypeActionAffinityPubmed IDs
    ruthenium red
    Channel blockerNone5--
    La3+
    Channel blockerNone5--
    Mg2+
    Channel blockerNone5--
    2-APB
    ActivatorPotentiation5--
    Cd2+
    Channel blockerNone5--

    8 Novoseek inferred chemical compound relationships for TRPV6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p-mca 75.3 3 12181175 (1), 19339512 (1), 16650747 (1)
    1,25 dihydroxy vitamin d3 68.3 4 17550901 (2), 12869611 (1), 11545681 (1), 17293108 (1) (see all 5)
    vitamin d 64.8 18 17002582 (3), 16362534 (3), 11545681 (2), 18290714 (1) (see all 9)
    calcium 63.7 111 12869611 (5), 11287959 (3), 11545681 (3), 12520541 (3) (see all 43)
    calcitriol 55.2 18 16362534 (7), 11545681 (2), 17217060 (1), 12181175 (1) (see all 5)
    inositol 1,4,5 trisphosphate 37 2 12361955 (1), 14534305 (1)
    thapsigargin 32.8 3 12361955 (1), 14534305 (1), 16529812 (1)
    steroid 0 1 16574738 (1)

    Search CenterWatch for drugs/clinical trials and news about TRPV6

    (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,
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    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 TRPV6 gene (2 alternative transcripts): 
    NM_018646.4  NM_014274.3  

    Unigene Clusters for TRPV6:

    Transient receptor potential cation channel, subfamily V, member 6
    Hs.302740  [show with all ESTs], Hs.638966
    Unigene Representative Sequences: AY203947, BC017071
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359396(uc003wbw.1 uc003wbx.2) ENST00000463646 ENST00000487077(uc010lou.1)
    ENST00000485138 ENST00000436401 ENST00000474388 ENST00000489123 ENST00000431833

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TRPV6

    Additional mRNA sequence: BC017071.2 

    11 DOTS entries:

    DT.441920  DT.40106465  DT.100019851  DT.95076556  DT.40238567  DT.100019850  DT.121076131  DT.95068923 
    DT.121076465  DT.121076513  DT.121076849 

    24/57 AceView cDNA sequences (see all 57):

    AK075206 BC007094 AI611008 AJ277909 NM_018646 AA908264 AF365927 BC034814 
    CD722430 BF222670 BM984853 AF365928 CR600768 AK075103 CF528075 CD724031 
    BX402867 AA078558 AI969838 AY203947 BX371488 BX389466 W88571 AF304463 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TRPV6    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:        -                             -                                             
    SP2:                                                                                    
    SP3:                                                                                    


    ECgene alternative splicing isoforms for TRPV6

    (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

    TRPV6 expression in normal human tissues (normalized intensities)      TRPV6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGAGCACT
    TRPV6 Expression
    About this image


    TRPV6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             salivary gland   
     
     Intestine (Gastrointestinal Tract)
             duodenum   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Placenta (Extraembryonic Tissues)
     
     Prostate (Endocrine System)

    See TRPV6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRPV6

    SOURCE GeneReport for Unigene clusters: Hs.302740 Hs.638966

    UniProtKB/Swiss-Prot: TRPV6_HUMAN, Q9H1D0
    Tissue specificity: Expressed at high levels in the gastrointestinal tract, including esophagus, stomach,
    duodenum, jejunum, ileum and colon, and in pancreas, placenta, prostate and salivary gland. Expressed at moderate
    levels in liver, kidney and testis. Expressed in locally advanced prostate cancer, metastatic and
    androgen-insensitive prostatic lesions but not detected in healthy prostate tissue and benign prostatic
    hyperplasia

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    (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 TRPV6 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trpv61 , 5 transient receptor potential cation channel, subfamily more1, 5 86.37(n)1
    90.06(a)1
      6 (19.79 cM)5
    641771  NM_022413.41  NP_071858.21 
     416206215 
    chicken
    (Gallus gallus)
    Aves TRPV61 transient receptor potential cation channel, subfamily more 69.57(n)
    72.04(a)
      418307  XM_416530.2  XP_416530.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    68(a)
    68(a)
    many ↔ many
    many ↔ many
    GL343499.1(35241-159052)
    GL343391.1(246038-283384)
    African clawed frog
    (Xenopus laevis)
    Amphibia XCAT12 calcium transporter 1 75.44(n)    AB085630.1 
    zebrafish
    (Danio rerio)
    Actinopterygii trpv61 transient receptor potential cation channel, subfamily more 58.28(n)
    51.55(a)
      100000322  NM_001001849.1  NP_001001849.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nan6
    iav6
    inactive
    20(a)
    14(a)
    many ↔ many
    many ↔ many
    3L(14179349-14182748)
    X(6708151-6712189)
    worm
    (Caenorhabditis elegans)
    Secernentea ocr-43 ankyrin-like protein 27(a)
    (best of 2)
      IV(7329867-7332932)   --


    ENSEMBL Gene Tree for TRPV6 (if available)
    TreeFam Gene Tree for TRPV6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRPV6 gene
    TRPV52  TRPV32  TRPV12  TRPV22  TRPV42  
    4 SIMAP similar genes for TRPV6 using alignment to 3 protein entries:     TRPV6_HUMAN (see all proteins):
    ECAC2    TRPV5    TRPV1    TRPV2

    TRPV6 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

    10/463 SNPs in TRPV6 are shown (see all 463)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2014360431,2
    --142569428(+) GAGAGC/TAAGTT 1 -- ut310--------
    rs1417342361,2
    C--142569441(+) AGGAAA/GCGAAG 1 -- ut310--------
    rs1114891571,2
    C,F--142569455(+) GAACAC/TGCAGT 1 -- ut313Minor allele frequency- T:0.00CSA WA EU 1443
    rs49876841,2
    C,F,H--142569531(-) GGACCC/TTGAGG 2 L syn1 ese316Minor allele frequency- T:0.02NS NA WA 5916
    rs49876831,2
    C,F,H--142569556(-) GCCAAT/CTGGGA 2 /N syn122Minor allele frequency- C:0.04NS NA EA WA EU 7348
    rs49876821,2,4
    C,F,H--142569596(-) TCCTAT/CGCCCT 2 /T /M mis141Minor allele frequency- C:0.22NS MN NA EA WA CSA EU 9587
    rs1493329101,2
    C--142569615(+) GTGGGG/AGCTGA 2 /P /S mis11Minor allele frequency- A:0.00NA 4552
    rs2003852861,2
    --142569675(+) AGAGCC/TCCGGG 2 S G mis10--------
    rs1144898971,2
    C,F--142569753(+) GAATGC/TGGGAG 1 -- int11Minor allele frequency- T:0.04WA 118
    rs1995493931,2
    C--142569754(+) AATGCC/GGGAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for TRPV6 (142568956 - 142583507 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for TRPV6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv428187CNV Loss18775914
    nsv520735CNV Loss19592680
    nsv889274CNV Loss21882294
    nsv889280CNV Gain21882294
    dgv7506n71CNV Gain21882294
    nsv526015CNV Gain19592680
    nsv831168CNV Gain17160897
    dgv7505n71CNV Gain21882294
    nsv889285CNV Gain21882294
    dgv2145e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606680    OMIM disorders: --

    20 diseases for TRPV6:    About MalaCards
    duodenum cancer    hypervitaminosis d    aromatase deficiency    cri-du-chat syndrome
    dandy-walker syndrome    pendred syndrome    dent's disease    pseudohypoaldosteronism
    rickets    intellectual disability    microcephaly    duodenitis
    bipolar disorder    crohn's disease    prostate cancer    prostatitis
    atherosclerosis    glioblastoma    retinitis    leukemia

    4 diseases from the University of Copenhagen DISEASES database for TRPV6:
    Cri-Du-Chat syndrome     Microcephaly     Hypervitaminosis D     Intellectual disability

    TRPV6 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for TRPV6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 39.1 21 14586412 (4), 19857260 (3), 12869611 (2), 16529812 (2) (see all 9)
    benign prostatic hyperplasia 34.5 3 11401523 (1), 14586412 (1), 19857260 (1)
    tumors 0 4 14586412 (3), 11401523 (1)
    cancer 0 4 12869611 (1), 12480925 (1), 17217060 (1)

    Genetic Association Database (GAD): TRPV6
    Human Genome Epidemiology (HuGE) Navigator: TRPV6 (2 documents)

    Export disorders for TRPV6 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 TRPV6 gene, integrated from 9 sources (see all 129):
    (articles sorted by number of sources associating them with TRPV6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural conservation of the genes encoding CaT1, CaT2, and related cation channels. (PubMed id 11549322)1, 2, 3, 9 Peng J.-B.... Hediger M.A. (2001)
    2. Human calcium transport protein CaT1. (PubMed id 11097838)1, 2, 3 Peng J.-B.... Hediger M.A. (2000)
    3. TRPV6 alleles do not influence prostate cancer progre ssion. (PubMed id 19857260)1, 4, 9 Kessler T....Flockerzi V. (2009)
    4. 1,25-dihydroxyvitamin D3 increases the expression of the CaT1 epithelial calcium channel in the Caco-2 human intestinal cell line. (PubMed id 11545681)1, 2, 9 Wood R.J.... Taparia S. (2001)
    5. TRPV6 exhibits unusual patterns of polymorphism and divergence in worldwide populations. (PubMed id 16717058)1, 3, 9 Akey J.M....Shriver M.D. (2006)
    6. Competitive regulation of CaT-like-mediated Ca2+ entry by protein kinase C and calmodulin. (PubMed id 11248124)1, 2, 9 Niemeyer B.A.... Trost C. (2001)
    7. Expression of CaT-like, a novel calcium selective channel, correlates with the malignancy of prostate cancer. (PubMed id 11278579)1, 2, 9 Wissenbach U.... Flockerzi V. (2001)
    8. Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. (PubMed id 18276610)1, 4 Suzuki Y....Frey F.J. (2008)
    9. 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)
    10. Ca2+ dependence of the Ca2+-selective TRPV6 channel. (PubMed id 15184369)1, 2 Bodding M. and Flockerzi V. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 55503 HGNC: 14006 AceView: TRPV6 Ensembl:ENSG00000165125 euGenes: HUgn55503
    ECgene: TRPV6 Kegg: 55503 H-InvDB: TRPV6

    (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 TRPV6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TRPV6 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/TRPV6
    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 TRPV6 gene:
    Search GeneIP for patents involving TRPV6

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



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