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

TRPV6 Gene

protein-coding   GIFtS: 63
GCID: GC07M142568

transient receptor potential cation channel, subfamily V,...

(Previous name: epithelial calcium channel 2 )
(Previous symbol: ECAC2)
 Explore 21 diseases affiliated with
TRPV6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TRPV6    

Aliases
for TRPV6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transient Receptor Potential Cation Channel, Subfamily V, Member 61 2     ZFAB2
ECAC21 2 3 5     Alu-Binding Protein With Zinc Finger Domain2
Epithelial Calcium Channel 21 2 3     CaT-L3
CaT11 3     Calcium Channel CaT12
Calcium Transport Protein 12 3     Epithelial Apical Membrane Calcium Transporter/Channel CaT12
CAT12 5     Transient Receptor Potential Cation Channel Subfamily V Member 62
CATL2 5     CaT-L3
ABP/ZF2     CaT-Like1
HSA2779092     ECaC23
LP67282     TrpV63

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


Summaries
for TRPV6 gene

(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:
This gene encodes a member of the vanilloid family of transient receptor potential (TRP) calcium channel proteins.
Proteins in this TRP family have an N-terminal ankyrin repeat domain, which is required for channel assembly and
regulation. (provided by RefSeq, Nov 2011)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007914.15  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

1 alternative location:
Chr7-,CRA_TCAG 141,970,824-141,985,342     

Proteins
for TRPV6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Glycosylated (By similarity)1
  • 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
    inactivation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H1D0

    • TRPV6 Protein expression data from MOPED and PaxDb:    About this image 
    TRPV6 Protein Expression
    REFSEQ proteins: NP_061116.2  
    ENSEMBL proteins: 
     ENSP00000352358   ENSP00000411100   ENSP00000415917  

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    Novus Biologicals TRPV6 Protein
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    Uscn Proteins for TRPV6

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane TAS11278579
    GO:0016021integral to membrane ----

    TRPV6 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TRPV6

    Protein Domains /
    Families
    for TRPV6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TRPV6 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: 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


    Function
    for TRPV6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005262calcium channel activity IDA15184369
    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 

         10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Trpv6):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     immune system  integument  renal/urinary system  reproductive system  skeleton 

    TRPV6 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for TRPV6: Ephb6/Trpv6Ephb6/tm2.1Mfre Ephb6/Trpv6Ephb6/tm1Mhed Ephb6/Trpv6Ephb6/tm1.2Mfre
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TRPV6 

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRPV6
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate TRPV6 (see all 21):
    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 plasmid: TRPV6 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TRPV6 (see all 7)
    OriGene siRNA: TRPV6
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    Sirion Biotech Custom design and validation of potent shRNA sequences against TRPV6 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of TRPV6 
    Sirion Biotech Customized adenovirus for potent knockdown of TRPV6

    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPV6


    Pathways & Interactions
    for TRPV6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TCR signaling in naive CD4+ T cells
    		TCR signaling in naive CD4+ T cells1.00
    		TCR signaling in naive CD8+ T cells0.64
    2Calcium channels
    		Calcium channels1.00
    3Signaling events mediated by PTP1B
    		Signaling events mediated by PTP1B1.00
    4Mineral absorption
    		Mineral absorption1.00
    5CREB Pathway
    		Intracellular Calcium Signaling0.50

    Pathway sources
    See GeneCards unified pathways
    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 
        TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells
    Signaling events mediated by PTP1B


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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006816calcium ion transport NAS11278579
    GO:0017158regulation of calcium ion-dependent exocytosis NAS11278579
    GO:0070588calcium ion transmembrane transport ----

    TRPV6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TRPV6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    CapsazepineVanilloid receptor antagonist. Also activator of ENaCdelta[138977-28-3]
    OlvanilPotent vanilloid receptor agonist[58493-49-5]
    ResiniferatoxinPotent vanilloid receptor agonist[57444-62-9]
    6-Iodonordihydrocapsaicin Potent, competitive vanilloid receptor antagonist --
    PPAHVNon-pungent vanilloid receptor agonist[175796-50-6]

    1 HMDB Compound for TRPV6    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    8 Novoseek 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 

    Transcripts
    for TRPV6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TRPV6 gene (2 alternative transcripts): 
    NM_014274.3  NM_018646.3  

    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


    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 plasmid: TRPV6 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    AK075103 AK075206 CD722430 BF222670 BX402867 AJ277909 BC034814 CF528075 
    AI611008 AF365927 AF365928 CR600768 BC007094 AA908264 BM984853 CD724031 
    NM_018646 AJ243501 BF223297 AJ487964 BX334550 AJ243500 AA078617 AI972384 

    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

    Expression
    for TRPV6 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™, 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAGAGCACT
    TRPV6 Expression
    About this image
    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
    for TRPV6 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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for TRPV6 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 --
    --
    		 --
    		 77(a)
    68(a)
    		 many ↔ many
    many ↔ many
    		 GL343499.1(112250-144704)
    GL343391.1(246038-266927)
    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
    for TRPV6 gene

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

    TRPV6 for paralogs           About GeneDecksing



    Genomic Variants
    for TRPV6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/368 NCBI SNPs in TRPV6 are shown (see all 368)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs49876851,2
    		C,F--142569363(-) CCCAGG/-CCCCA 1 -- ut316Minor allele frequency- -:0.06NS NA 230
    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
    		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

    HapMap Linkage Disequilibrium report for TRPV6 (142568956 - 142583507 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TRPV6
         1 CNV: 52134

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    Disorders / Diseases
    for TRPV6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TRPV6 for disorders           About GeneDecksing

    OMIM gene information: 606680    OMIM disorders: --

    20/21 diseases for TRPV6 (see all 21):    About MalaCards
    cri-du-chat syndrome    dandy-walker syndrome    hypervitaminosis d    aromatase deficiency
    duodenum cancer    pendred syndrome    intellectual disability    pseudohypoaldosteronism
    hypercalciuria    rickets    bipolar disorder    microcephaly
    crohn's disease    prostate cancer    duodenitis    prostatitis
    atherosclerosis    glioblastoma    retinitis    leukemia

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: TRPV6 (2 documents)

    Export disorders for TRPV6 gene to outside databases

    Publications
    for TRPV6 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)
    About This Section

    PubMed articles for TRPV6 gene, integrated from 9 sources (see all 123):
    (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. 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)
    4. TRPV6 exhibits unusual patterns of polymorphism and divergence in worldwide populations. (PubMed id 16717058)1, 3, 9 Akey J.M....Shriver M.D. (2006)
    5. 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)
    6. 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)
    7. 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)
    8. Ca2+ dependence of the Ca2+-selective TRPV6 channel. (PubMed id 15184369)1, 2 Bodding M. and Flockerzi V. (2004)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    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)

    External Searches for TRPV6 gene

    (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)

    Genome Databases showing TRPV6 gene

    (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

    Other Databases showing TRPV6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TRPV6 gene

    (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
    Wikipedia http://en.wikipedia.org/wiki/TRPV6
    SeattleSNPshttp://pga.gs.washington.edu/data/trpv5/

    Intellectual Property
    for TRPV6 gene

    (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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    About This Section

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