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

TRPM6 Gene

protein-coding   GIFtS: 63
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

Aliases
Transient Receptor Potential Cation Channel, Subfamily M, Member 61 2     EC 2.7.11.13 8
CHAK22 3 5     Hypomagnesemia, Secondary Hypocalcemia1
HOMG1 2     HMGX2
HSH1 2     HOMG12
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 with secondary hypocalcemia, and enamel caries, and among its related super-pathways are CREB Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TRPM6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BX84

  • 4/22 DME Specific Peptides for TRPM6 (Q9BX84) (see all 22)
     WSVEKHT  PWGVIEN  AGRLIYC  SMSSWSQ 

    TRPM6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TRPM6 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001170781.1  NP_001170782.1  NP_060132.3  

    ENSEMBL proteins: 
     ENSP00000354006   ENSP00000351942   ENSP00000407341   ENSP00000366068   ENSP00000366067  
     ENSP00000396672   ENSP00000354962   ENSP00000366060  

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TRPM6 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0031526brush border membrane IEA--

    TRPM6 for ontologies           About GeneDecksing



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    Novus Biologicals TRPM6 Antibodies
    Abcam antibodies for TRPM6
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    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
    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

    3 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR005821 Ion_trans_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,
    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: 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): 5/8 molecular function terms (GO ID links to tree view) (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  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 - Custom generated mouse model solutions for TRPM6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TRPM6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPM6 
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    miRNA
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    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:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM6


    (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 TRPM6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CREB Pathway
    Intracellular Calcium Signaling0.50
    2Mineral absorption
    Mineral absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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


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


    TRPM6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TRPM6

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

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

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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:0055085transmembrane transport ----

    TRPM6 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

    TRPM6 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about TRPM6

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

    REFSEQ mRNAs for 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
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    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
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    Primer
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    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 

    24/55 AceView cDNA sequences (see all 55):

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

    GeneLoc Exon Structure

    5/12 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™, 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

    TRPM6 expression in normal human tissues (normalized intensities)      TRPM6 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)
             Loop of Henle Cells Loop of Henle
     
     Colon (Gastrointestinal Tract)
             distal colon   
     
     Ovary (Reproductive System)
             Granulosa Cells Primary Follicle
     
     Intestine (Gastrointestinal Tract)
     
     Blood (Hematopoietic System)

    See TRPM6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRPM6

    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

        SABiosciences Expression via Pathway-Focused PCR Array including TRPM6: 
              Neuronal Ion Channels in human mouse rat

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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 chordates.

    Orthologs for TRPM6 gene from 4/11 species (see all 11)    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 81.63(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 71.16(n)
    70.19(a)
      100859603  XM_003643021.1  XP_003643069.1 
    lizard
    (Anolis carolinensis)
    Reptilia TRPM66
    Uncharacterized protein
    64(a)
    1 ↔ 1
    2(46935244-47007521)
    zebrafish
    (Danio rerio)
    Actinopterygii TRPM66
    transient receptor potential cation channel, subfa...
    53(a)
    1 ↔ 1
    5(26922394-26952880)


    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
    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) 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

    10/3702 SNPs in TRPM6 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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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: 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

  • 8 diseases for TRPM6:    About MalaCards
    hypomagnesemia with secondary hypocalcemia    enamel caries    nephrocalcinosis    cholera
    kidney disease    diabetes mellitus    hypertension    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

    PubMed articles for TRPM6 gene, integrated from 9 sources (see all 57):
    (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. (2004)
    2. Gene variation of the transient receptor potential ca tion channel, subfamily M, members 6 (TRPM6) and 7 (TRPM7), and type 2 diabetes mellitus: a case-control study. (PubMed id 20875900)1, 4 Romero J.R....Zee R.Y. (2010)
    3. Genome-wide association studies of serum magnesium, p otassium, and sodium concentrations identify six Loci influencing serum magnesi um levels. (PubMed id 20700443)1, 4 Meyer T.E.... . (2010)
    4. Genetic determinants of extracellular magnesium conce ntration: analysis of multiple candidate genes, and evidence for association wi th the estrogen receptor alpha (ESR1) locus. (PubMed id 19695239)1, 4 Shuen A.Y....Cole D.E. (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. (2009)
    6. RACK1 inhibits TRPM6 activity via phosphorylation of the fused alpha-kinase domain. (PubMed id 18258429)1, 2 Cao G....Hoenderop J.G. (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. (2005)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (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. (2002)
    10. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. (PubMed id 12032570)1, 3 Walder R.Y....Sheffield V.C. (2002)

    (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: 140803 HGNC: 17995 AceView: TRPM6 Ensembl:ENSG00000119121 euGenes: HUgn140803
    ECgene: TRPM6 Kegg: 140803 H-InvDB: TRPM6

    (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 TRPM6 Pharmacogenomics, SNPs, Pathways

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



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