Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TRPM6 Gene

protein-coding   GIFtS: 65
GCID: GC09M077337

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

(Previous names: hypomagnesemia, secondary hypocalcemia)
(Previous symbols: HOMG, HSH)
  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

TryGeneCards Plus

Aliases
Transient Receptor Potential Cation Channel, Subfamily M, Member 61 2     EC 2.7.11.13 8
CHAK22 3 5     HOMG12 5
HOMG1 2     Hypomagnesemia, Secondary Hypocalcemia1
HSH1 2     HMGX2
Channel Kinase 22 3     Transient Receptor Potential Cation Channel Subfamily M Member 62
Melastatin-Related TRP Cation Channel 62 3     

External Ids:    HGNC: 179951   Entrez Gene: 1408032   Ensembl: ENSG000001191217   OMIM: 6070095   UniProtKB: Q9BX843   

Export aliases for TRPM6 gene to outside databases

Previous GC identifers: GC09M068381 GC09M069193 GC09M070907 GC09M072794 GC09M074566 GC09M076527 GC09M047159


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

TryGeneCards Plus

Entrez Gene summary for TRPM6 Gene:
This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel
domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in
epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this
gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants
encoding different isoforms have been noted for this gene. (provided by RefSeq, Apr 2010)

GeneCards Summary for TRPM6 Gene:
TRPM6 (transient receptor potential cation channel, subfamily M, member 6) is a protein-coding gene. Diseases associated with TRPM6 include hypomagnesemia 1, intestinal, and hypomagnesemia with secondary hypocalcemia. GO annotations related to this gene include protein serine/threonine kinase activity and calcium channel activity. An important paralog of this gene is TRPM2.

UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84
Function: Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an
important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney.
Isoforms of the type M6-kinase lack the ion channel region

Gene Wiki entry for TRPM6 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TRPM6 gene promoter:
         c-Fos   AP-1   AML1a   Nkx2-2   Bach2   Evi-1   FOXJ2 (long isoform)   ZID   FOXJ2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRPM6 promoter sequence
   Search Chromatin IP Primers for TRPM6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRPM6


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

Entrez Gene cytogenetic band: 9q21.13   Ensembl cytogenetic band:  9q21.13   HGNC cytogenetic band: 9q21.13

TRPM6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPM6 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M077337:  view genomic region     (about GC identifiers)

Start:
77,337,411 bp from pter      End:
77,503,010 bp from pter
Size:
165,600 bases      Orientation:
minus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84 (See protein sequence)
Recommended Name: Transient receptor potential cation channel subfamily M member 6  
Size: 2022 amino acids; 231708 Da
Subunit: Forms heterodimers with TRPM7. TRPM6 requires the presence of TRPM7 to be targeted to the cell membrane
(in HEK 293 cells). Interacts (via kinase domain) with GNB2L1/RACK1
Secondary accessions: Q6VPR8 Q6VPR9 Q6VPS0 Q6VPS1 Q6VPS2
Alternative splicing: 7 isoforms:  Q9BX84-1   Q9BX84-2   Q9BX84-3   Q9BX84-4   Q9BX84-5   Q9BX84-6   Q9BX84-7   (Lacks the ion channel region)

Explore the universe of human proteins at neXtProt for TRPM6: NX_Q9BX84

Explore proteomics data for TRPM6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TRPM6 (Q9BX84) (see all 22)
     WSVEKHT  PWGVIEN  AGRLIYC  SMSSWSQ 


    See TRPM6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001170781.1  NP_001170782.1  NP_060132.3  

    ENSEMBL proteins: 
     ENSP00000354006   ENSP00000351942   ENSP00000407341   ENSP00000366068   ENSP00000366067  
     ENSP00000396672   ENSP00000354962   ENSP00000366060  
    Reactome Protein details: Q9BX84

    TRPM6 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TRPM6
    GenScript Custom Purified and Recombinant Proteins Services for TRPM6
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TRPM6

    TRPM6 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for TRPM6
    Novus Biologicals TRPM6 Antibodies
    Abcam antibodies for TRPM6
    Cloud-Clone Corp. Antibodies for TRPM6
    ThermoFisher Antibodies for TRPM6
    LSBio Antibodies in human, mouse, rat for TRPM6

    TRPM6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TRPM6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TRPM6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TRPM6
    Cloud-Clone Corp. CLIAs for TRPM6


    (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

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPM6
    ChaK subfamily
    Transient Receptor Potential channels

    2 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR004166 MHCK_EF2_kinase

    Graphical View of Domain Structure for InterPro Entry Q9BX84

    ProtoNet protein and cluster: Q9BX84

    UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84
    Similarity: In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase
    family. ALPK subfamily
    Similarity: In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM6
    sub-subfamily
    Similarity: Contains 1 alpha-type protein kinase domain


    TRPM6 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRPM6_HUMAN, Q9BX84
    Function: Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an
    important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney.
    Isoforms of the type M6-kinase lack the ion channel region
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0005216ion channel activity ----
    GO:0005261cation channel activity ----
    GO:0005262calcium channel activity IEA--
    GO:0005515protein binding IPI18258429
         
    TRPM6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TRPM6:
     Decreased substrate adherent c 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Trpm6):
     craniofacial  embryogenesis  growth/size/body  homeostasis/metabolism  mortality/aging 
     nervous system  reproductive system  skeleton 

    TRPM6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Trpm6tm1.1Rws for TRPM6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRPM6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TRPM6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPM6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPM6

    miRNA
    Products:
        
    miRTarBase miRNAs that target TRPM6:
    hsa-mir-1 (MIRT023597)

    Block miRNA regulation of human, mouse, rat TRPM6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TRPM6 (see all 25):
    hsa-miR-498 hsa-miR-1226 hsa-miR-539 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-1297 hsa-miR-3605-5p
    SwitchGear 3'UTR luciferase reporter plasmidTRPM6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TRPM6
    Predesigned siRNA for gene silencing in human, mouse, rat TRPM6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TRPM6

    Clone
    Products:
         
    OriGene clones in human, mouse for TRPM6 (see all 11)
    OriGene ORF clones in mouse, rat for TRPM6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TRPM6 (NM_017662)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRPM6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPM6

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TRPM6
    Browse ESI BIO Cell Lines and PureStem Progenitors for TRPM6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    TRPM6_HUMAN, Q9BX84: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0031526brush border membrane IEA--

    TRPM6 for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for TRPM6 About    
    See pathways by source

    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
    5Mineral absorption
    Mineral absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TRPM6
        Intracellular Calcium Signaling

    1 Reactome Pathway for TRPM6
        TRP channels


    1 Kegg Pathway  (Kegg details for TRPM6):
        Mineral absorption


    TRPM6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TRPM6: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TRPM6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for TRPM6 (Q9BX842, 3 ENSP000003540064) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYH10P355802, 3, ENSP000002692434MINT-6699529 I2D: score=1 STRING: ENSP00000269243
    MYH9P355792, 3, ENSP000002161814MINT-6699553 I2D: score=1 STRING: ENSP00000216181
    MYH14Q7Z4062, 3, ENSP000004078794MINT-6699445 I2D: score=1 STRING: ENSP00000407879
    TRPM7Q96QT43, ENSP000003202394I2D: score=1 STRING: ENSP00000320239
    PRKAA1Q131313I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0006811ion transport ----
    GO:0009636response to toxic substance IDA17575980
    GO:0030001metal ion transport ----
    GO:0034220ion transmembrane transport TAS--

    TRPM6 for ontologies           About GeneDecksing



    (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)
    About This Section

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

    Browse Tocris compounds for TRPM6

    3 HMDB Compounds for TRPM6    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--

    5 IUPHAR Ligands for TRPM6 (TRPM6)    About this table
    LigandTypeActionAffinityPubmed IDs
    Ca2+
    Channel blockerNone5.268 - 5.319--
    Mg2+
    Pore BlockerAntagonist3.314576148
    ruthenium red
    Pore BlockerAntagonist3.314576148
    H+ (extracellular)
    ActivatorPotentiation3.3--
    2-APB
    ActivatorPotentiation3.3--

    4 Novoseek inferred chemical compound relationships for TRPM6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    magnesium 75 40 19890837 (4), 16636202 (2), 14976260 (2), 18192217 (2) (see all 12)
    calcium 26.3 2 17599911 (1), 16580611 (1)
    threonine 20.8 1 17217065 (1)
    serine 5.28 1 17217065 (1)



    TRPM6 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for TRPM6 gene (3 alternative transcripts): 
    NM_001177310.1  NM_001177311.1  NM_017662.4  

    Unigene Cluster for TRPM6:

    Transient receptor potential cation channel, subfamily M, member 6
    Hs.272225  [show with all ESTs]
    Unigene Representative Sequence: NM_017662
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360774(uc004ajl.1 uc010mpb.1 uc010mpc.1 uc010mpd.1)
    ENST00000483186 ENST00000359047(uc004ajn.1) ENST00000451710 ENST00000376872
    ENST00000376871(uc010mpe.1) ENST00000449912(uc004ajj.1 uc022bib.1)
    ENST00000361255(uc004ajk.1) ENST00000376864
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TRPM6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TRPM6 (see all 25):
    hsa-miR-498 hsa-miR-1226 hsa-miR-539 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-1297 hsa-miR-3605-5p
    SwitchGear 3'UTR luciferase reporter plasmidTRPM6 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TRPM6
    Predesigned siRNA for gene silencing in human, mouse, rat TRPM6
    Clone
    Products:
         
    OriGene clones in human, mouse for TRPM6 (see all 11)
    OriGene ORF clones in mouse, rat for TRPM6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TRPM6 (NM_017662)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRPM6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPM6
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TRPM6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TRPM6
      QuantiTect SYBR Green Assays in human, mouse, rat TRPM6
      QuantiFast Probe-based Assays in human, mouse, rat TRPM6

    Additional mRNA sequence: 

    AF350881.2 AF448232.1 AK000094.1 AK026281.1 AK057748.1 AK225207.1 AY333282.1 AY333283.1 
    AY333284.1 AY333286.1 AY333287.1 AY333288.1 

    8 DOTS entries:

    DT.102826835  DT.102826834  DT.100657746  DT.100662746  DT.95176357  DT.95076159  DT.121168357  DT.100762226 

    Selected AceView cDNA sequences (see all 55):

    AY333284 CA420033 CB159778 AF350881 AY333286 AY333283 AF448232 AY333282 
    AI272662 AY333288 BI754451 AK026281 AY333287 AW772222 BF447669 AY333285 
    NM_017662 CR618713 BX281186 BX412547 AK057748 CD628395 BX440183 CD244036 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TRPM6 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^
    SP1:              -     -                 -           -                       -           -                                                     -               
    SP2:              -     -                 -           -                       -           -                                                     -               
    SP3:                    -                 -           -                       -           -                                                     -               
    SP4:                                      -           -                       -           -                                                     -               
    SP5:              -     -                 -           -                       -           -                                               -     -     -     -   

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b ·
    SP1:                                      -                                                                                                                     
    SP2:                                      -                                                                                         -                           
    SP3:                                      -                                                                                         -                           
    SP4:                                      -                                                                                         -                           
    SP5:  -     -     -     -     -     -     -     -     -     -     -     -                                                           -                           


    ECgene alternative splicing isoforms for TRPM6

    (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

    TryGeneCards Plus

    TRPM6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAATGAGCT
    TRPM6 Expression
    About this image


    TRPM6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Ovary (Reproductive System)
             Granulosa Cells Primary Follicle
     
     Kidney (Urinary System)
             Loop of Henle Cells Loop of Henle
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    TRPM6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRPM6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.272225

    UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84
    Tissue specificity: Highly expressed in kidney and colon. Isoform TRPM6a and isoform TRPM6b, are coexpressed with
    TRPM7 in kidney, and testis, and are also found in several cell lines of lung origin. Isoform TRPM6c is detected
    only in testis and in NCI-H510A small cell lung carcinoma cells

        Pathway & Disease-focused RT2 Profiler PCR Array including TRPM6: 
              Neuronal Ion Channels in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TRPM6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TRPM6
    QuantiTect SYBR Green Assays in human, mouse, rat TRPM6
    QuantiFast Probe-based Assays in human, mouse, rat TRPM6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM6

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for TRPM6 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trpm61 , 5 transient receptor potential cation channel, subfamily more1, 5 81.71(n)1
    78.82(a)1
      19 (13.21 cM)5
    2259971  NM_153417.11  NP_700466.11 
     187499835 
    chicken
    (Gallus gallus)
    Aves TRPM61 transient receptor potential cation channel, subfamily more 70.37(n)
    69(a)
      100859603  XM_003643021.2  XP_003643069.2 
    lizard
    (Anolis carolinensis)
    Reptilia TRPM66
    transient receptor potential cation channel, subfa...
    64(a)
    1 ↔ 1
    2(46935244-47007521)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia trpm61 transient receptor potential cation channel, subfamily more 66.82(n)
    67.15(a)
      100487366  XM_002940033.2  XP_002940079.2 
    zebrafish
    (Danio rerio)
    Actinopterygii TRPM66
    transient receptor potential cation channel, subfa...
    54(a)
    1 ↔ 1
    5(26922394-26952880) ENSDARG00000087272


    ENSEMBL Gene Tree for TRPM6 (if available)
    TreeFam Gene Tree for TRPM6 (if available)

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

    TryGeneCards Plus
    Paralogs for TRPM6 gene
    TRPM22  TRPM52  TRPM82  TRPM72  TRPM12  TRPM32  TRPM42  
    7 SIMAP similar genes for TRPM6 using alignment to 7 protein entries:     TRPM6_HUMAN (see all proteins):
    TRPM3    MLSN2    TRPM7    TRPM1    TRPM8    TRPM2
    TRPM4

    TRPM6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TRPM6
    PGOHUM00000245817


    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for TRPM6 (see all 3702)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0423894
    A lung large cell carcinoma sample4--see VAR_0423892 W C mis40--------
    VAR_0199634
    Hypomagnesemia 1 (HOMG1)4--see VAR_0199632 S L mis40--------
    VAR_0423874
    A lung adenocarcinoma sample4--see VAR_0423872 G V mis40--------
    rs1439244581,2
    C--47161091(+) TAAAA-/ATATATA 3 -- ut310--------
    rs1112334431,2
    C,F--47206546(+) AGGTCG/AAGGGG 3 -- int12Minor allele frequency- A:0.09WA 120
    rs348474311,2
    C--47231998(+) GTCTT-/CCCCCC 3 -- int10--------
    rs2000043621,2
    C--47253531(-) CATCTG/TTTTTT 3 -- int10--------
    rs673383421,2
    C--47282442(+) CATCG-/ATGGAG 3 -- int10--------
    rs1128023801,2
    C,F--47287306(+) AGGCTG/TAAGCA 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs585355761,2
    C--47311821(+) TTTTTT/-GAGAC 3 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for TRPM6 (77337411 - 77503010 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TRPM6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517373CNV Loss19592680
    dgv8252n71CNV Gain21882294
    nsv831624CNV Gain+Loss17160897
    nsv831623CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): TRPM6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRPM6
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPM6

    (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

    TryGeneCards Plus
    OMIM gene information: 607009   
    OMIM disorders: 602014  
    UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84
  • Hypomagnesemia 1 (HOMG1) [MIM:602014]: A disorder due to a primary defect in intestinal magnesium
    absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium
    secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic
    hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid
    failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological
    damage. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for TRPM6:    
    About MalaCards
    hypomagnesemia 1, intestinal    hypomagnesemia with secondary hypocalcemia    enamel caries    nephrocalcinosis
    cholera    kidney disease    diabetes mellitus    hypertension
    multiple myeloma    myeloma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TRPM6:
    Nephrocalcinosis

    TRPM6 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for TRPM6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypomagnesemia 90.3 20 17197439 (4), 18562569 (3), 18759094 (2), 19073827 (1) (see all 12)
    hypocalcemia 81.8 17 17197439 (4), 18759094 (2), 18562569 (1), 18548273 (1) (see all 11)
    genetic disorder 27.5 2 17217065 (1), 17536484 (1)

    Genetic Association Database (GAD): TRPM6
    Human Genome Epidemiology (HuGE) Navigator: TRPM6 (4 documents)

    Export disorders for TRPM6 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

    TryGeneCards Plus

    PubMed articles for TRPM6 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with TRPM6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. (PubMed id 14976260)1, 2, 9 Chubanov V.... Gudermann T. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    2. Gene variation of the transient receptor potential cation channel, subfamily M, members 6 (TRPM6) and 7A (TRPM7), and type 2 diabetes mellitus: a case-control study. (PubMed id 20875900)1, 4 Romero J.R....Zee R.Y. (Transl Res 2010)
    3. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. (PubMed id 20700443)1, 4 Meyer T.E.... . (PLoS Genet. 2010)
    4. Genetic determinants of extracellular magnesium concentration: analysis of multiple candidate genes, and evidence for association with the estrogen receptor alpha (ESR1) locus. (PubMed id 19695239)1, 4 Shuen A.Y....Cole D.E. ( international journal of clinical chemistry 2009)
    5. Common genetic variants of the ion channel transient receptor potential membrane melastatin 6 and 7 (TRPM6 and TRPM7), magnesium intake, and risk of type 2 diabetes in women. (PubMed id 19149903)1, 4 Song Y....Liu S. (BMC Med. Genet. 2009)
    6. RACK1 inhibits TRPM6 activity via phosphorylation of the fused alpha- kinase domain. (PubMed id 18258429)1, 2 Cao G.... Hoenderop J.G. (Curr. Biol. 2008)
    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. (Pharmacol. Rev. 2005)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    9. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. (PubMed id 12032568)1, 2 Schlingmann K.P....Konrad M. (Nat. Genet. 2002)
    10. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. (PubMed id 12032570)1, 3 Walder R.Y....Sheffield V.C. (Nat. Genet. 2002)

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

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 140803 HGNC: 17995 AceView: TRPM6 Ensembl:ENSG00000119121 euGenes: HUgn140803
    ECgene: TRPM6 Kegg: 140803 H-InvDB: TRPM6

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for TRPM6 Pharmacogenomics, SNPs, Pathways

    (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 TRPM6 gene:
    Search GeneIP for patents involving TRPM6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TRPM6  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for TRPM6  
     OriGene qSTAR qPCR primer pairs in human, mouse for TRPM6   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for TRPM6   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TRPM6   OriGene Custom Protein Services for TRPM6  

     
     
     Block miRNA regulation of human, mouse, rat TRPM6 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TRPM6
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRPM6 Predesigned siRNA for gene silencing in human, mouse, rat TRPM6
     QuantiFast Probe-based Assays in human, mouse, rat TRPM6 QuantiTect SYBR Green Assays in human, mouse, rat TRPM6
     PCR Arrays including human, mouse, rat TRPM6 Search Chromatin IP Primers for TRPM6
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TRPM6  GeneGlobe Interaction Network for TRPM6
     Regulatory tfbs in TRPM6 promoter
     GenScript Custom Purified and Recombinant Proteins Services for TRPM6 GenScript cDNA clones with any tag delivered in your preferred vector for TRPM6
     GenScript Custom Assay Services for TRPM6 GenScript Custom overexpressing Cell Line Services for TRPM6
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for TRPM6
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     TRPM6 antibodies
     Antibodies for TRPM6
     See all of Abcam's Antibodies, Kits and Proteins for TRPM6
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for TRPM6
     Antibodies for TRPM6
     ELISAs for TRPM6
     CLIAs for TRPM6



     Browse ESI BIO Cell Lines and PureStem Progenitors for TRPM6
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM6
     SwitchGear 3'UTR luciferase reporter plasmids for TRPM6
     SwitchGear Promoter luciferase reporter plasmids for TRPM6
     ThermoFisher Antibodies for TRPM6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPM6
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRPM6
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TRPM6
     LSBio Antibodies in human, mouse, rat for TRPM6
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TRPM6 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4