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

MTMR6 Gene

protein-coding   GIFtS: 62
GCID: GC13M025820

Myotubularin Related Protein 6

  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
Myotubularin Related Protein 61 2
Myotubularin-Related Protein 62
EC 3.1.3.-3
EC 3.1.38
EC 3.1.3.488

External Ids:    HGNC: 74531   Entrez Gene: 91072   Ensembl: ENSG000001395057   OMIM: 6035615   UniProtKB: Q9Y2173   

Export aliases for MTMR6 gene to outside databases

Previous GC identifers: GC13M023801 GC13M019801 GC13M024732 GC13M023619 GC13M024719 GC13M006634


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

GeneCards Summary for MTMR6 Gene: 
MTMR6 (myotubularin related protein 6) is a protein-coding gene. Diseases associated with MTMR6 include centronuclear myopathy, and charcot-marie-tooth disease, and among its related super-pathways are PI Metabolism and Metabolic pathways. GO annotations related to this gene include protein tyrosine phosphatase activity and calcium-activated potassium channel activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot: MTMR6_HUMAN, Q9Y217
Function: Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of
KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol
3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells

Gene Wiki entry for MTMR6 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_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MTMR6 gene promoter:
         STAT1   POU6F1 (c2)   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Nkx2-5   POU3F2   En-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTMR6 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTMR6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTMR6


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

Entrez Gene cytogenetic band: 13q12   Ensembl cytogenetic band:  13q12.13   HGNC cytogenetic band: 13q12

MTMR6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR6 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M025820:  view genomic region     (about GC identifiers)

Start:
25,802,307 bp from pter      End:
25,862,147 bp from pter
Size:
59,841 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: MTMR6_HUMAN, Q9Y217 (See protein sequence)
Recommended Name: Myotubularin-related protein 6  
Size: 621 amino acids; 71968 Da
Subunit: Interacts with KCNN4, MTMR7, MTMR8 and MTMR9
Subcellular location: Nucleus envelope
1 PDB 3D structure from and Proteopedia for MTMR6:
2YF0 (3D)    
Secondary accessions: B2RBB5 B3KSB4 Q5JRG6 Q86TB7 Q86YH4 Q96P80
Alternative splicing: 2 isoforms:  Q9Y217-1   Q9Y217-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MTMR6: NX_Q9Y217

Explore proteomics data for MTMR6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y217

  • 4/9 DME Specific Peptides for MTMR6 (Q9Y217) (see all 9)
     LDSYYRT  VGSSKFRS  WISFGHKF  SCQFGNFL 

    MTMR6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTMR6 Protein Expression
    REFSEQ proteins: NP_004676.3  
    ENSEMBL proteins: 
     ENSP00000371221   ENSP00000443161  
    Reactome Protein details: Q9Y217
    Human Recombinant Protein Products for MTMR6: 
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    Novus Biologicals MTMR6 Protein
    Novus Biologicals MTMR6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTMR6 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    MTMR6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DUSPM: Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

    4 InterPro protein domains:
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotub-related
     IPR016130 Tyr_Pase_AS
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y217

    ProtoNet protein and cluster: Q9Y217

    1 Blocks protein domain: IPB010569 Myotubularin-related

    UniProtKB/Swiss-Prot: MTMR6_HUMAN, Q9Y217
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 myotubularin phosphatase domain


    MTMR6 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: MTMR6_HUMAN, Q9Y217
    Function: Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of
    KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol
    3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells

         Genatlas biochemistry entry for MTMR6:
    myotubularin related protein 6,ubiquitously expressed

         Enzyme Numbers (IUBMB): EC 3.1.32 EC 3.1.3.482 EC 3.1.3.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004722protein serine/threonine phosphatase activity NAS9736772
    GO:0004725protein tyrosine phosphatase activity NAS9736772
    GO:0015269calcium-activated potassium channel activity IDA15831468
    GO:0016791phosphatase activity ----
         
    MTMR6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MTMR6:
     Increased apoptosis 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTMR6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MTMR6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTMR6 
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    miRNA
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    hsa-miR-548j hsa-miR-2052 hsa-miR-548k hsa-miR-485-3p hsa-miR-301a hsa-miR-342-3p hsa-miR-124 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidMTMR6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR6


    (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 MTMR6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.66
    Synthesis of PIPs at the plasma membrane0.66
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64
    4Fructose and mannose metabolism
    Fructose and mannose metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5        Reactome Pathways for MTMR6
        Metabolism
    Synthesis of PIPs at the plasma membrane
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism


    1         Kegg Pathway  (Kegg details for MTMR6):
        Fructose and mannose metabolism


    MTMR6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTMR6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/19 Interacting proteins for MTMR6 (Q9Y2173 ENSP000003712214) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTMR9Q96QG73, ENSP000002210864I2D: score=4 STRING: ENSP00000221086
    BCL6P411823, ENSP000002320144I2D: score=2 STRING: ENSP00000232014
    PI4K2AENSP000003596654STRING: ENSP00000359665
    SYNJ1ENSP000003222344STRING: ENSP00000322234
    SYNJ2ENSP000003477924STRING: ENSP00000347792
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation NAS9736772
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0016311dephosphorylation ----
    GO:0035335peptidyl-tyrosine dephosphorylation NAS9736772

    MTMR6 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

    MTMR6 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MTMR6

    2 Novoseek inferred chemical compound relationships for MTMR6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 3-phosphate 89.8 11 15831468 (2), 16914545 (1), 16251351 (1)
    lipid 19.4 2 15831468 (1), 19038970 (1)

    Search CenterWatch for drugs/clinical trials and news about MTMR6

    (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 MTMR6 gene: 
    NM_004685.3  

    Unigene Cluster for MTMR6:

    Myotubularin related protein 6
    Hs.643702  [show with all ESTs]
    Unigene Representative Sequence: NM_004685
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381801(uc001uqf.4) ENST00000482345(uc021rhj.1) ENST00000540661(uc001uqe.1 uc021rhi.1)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTMR6
    8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate MTMR6 (see all 54):
    hsa-miR-548j hsa-miR-2052 hsa-miR-548k hsa-miR-485-3p hsa-miR-301a hsa-miR-342-3p hsa-miR-124 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidMTMR6 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR6
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTMR6

    Additional mRNA sequence: 

    AF072928.1 AF406619.1 AK025507.1 AK314587.1 AL832017.2 BC031834.1 BC035436.1 BC040012.1 
    EF491793.1 EF491817.1 U47635.1 

    8 DOTS entries:

    DT.117217  DT.100731831  DT.40116937  DT.95176181  DT.120761802  DT.120761813  DT.117219  DT.95176205 

    24/198 AceView cDNA sequences (see all 198):

    NM_004685 BM693200 BP362569 BM799774 BM558706 BM053081 AI217727 BM053082 
    AA687240 BX353169 AL119215 AA373206 CK903989 CB119683 BX097604 BM719130 
    BM799643 Z39074 BX371371 AW615067 BM053121 BU567740 BM970170 CB994571 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MTMR6    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
    SP1:                                                                                -                                 
    SP2:                          -                                                                                       
    SP3:                                                                                                                  


    ECgene alternative splicing isoforms for MTMR6

    (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

    MTMR6 expression in normal human tissues (normalized intensities)      MTMR6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MTMR6 Expression
    About this image


    MTMR6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             ganglion/cranial/facial VII   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Granulocytes Peripheral Blood
             monocyte-derived macrophage   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Retina
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See MTMR6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTMR6

    SOURCE GeneReport for Unigene cluster: Hs.643702

    UniProtKB/Swiss-Prot: MTMR6_HUMAN, Q9Y217
    Tissue specificity: Expressed in CD4+ T-cells

        SABiosciences Custom PCR Arrays for MTMR6
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTMR6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR6

    (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 and fungi.

    Orthologs for MTMR6 gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtmr61 , 5 myotubularin related protein 61, 5 86.28(n)1
    90.76(a)1
      14 (31.62 cM)5
    2191351  NM_144843.41  NP_659092.11 
     602652055 
    chicken
    (Gallus gallus)
    Aves MTMR61 myotubularin related protein 6 78.87(n)
    86.13(a)
      418938  XM_417132.3  XP_417132.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTMR66
    myotubularin related protein 6
    81(a)
    1 ↔ 1
    GL343306.1(50672-75325)
    zebrafish
    (Danio rerio)
    Actinopterygii wufi04a112 wufi04a11 75.8(n)   327346  BC044359.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH046373 protein amino acid dephosphorylation
    protein tyrosine/serine/threonine
    more
    53(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T24A11.1a3   -- 36(a)
    (best of 2)
      III(3862420-3871844)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YMR11 Ymr1p 49.72(n)
    40.79(a)
      853574   NP_012644.1 


    ENSEMBL Gene Tree for MTMR6 (if available)
    TreeFam Gene Tree for MTMR6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTMR6 gene
    MTMR72  MTMR42  MTMR122  MTMR22  MTMR102  MTM12  MTMR82  MTMR32  
    SBF22  MTMR92  MTMR112  SBF12  MTMR12  
    9 SIMAP similar genes for MTMR6 using alignment to 1 protein entry:     MTMR6_HUMAN:
    MTMR7    MTMR8    MTM1    DKFZp434K171    MTMR2    MTMR1
    MTMR9    MTMR3    MTMR4

    MTMR6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/913 SNPs in MTMR6 are shown (see all 913)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1427140341,2
    --25819847(+) AACCCC/TGTCTC 1 -- ds50010--------
    rs1508151031,2
    --25819848(+) ACCCCA/GTCTCT 1 -- ds50010--------
    rs95074871,2
    C,F--25819955(+) gaggtT/Cgtggt 1 -- ds50014Minor allele frequency- C:0.15NA EA 244
    rs1427933381,2
    --25820047(+) AAAAA-/GAAT  
            
    AATTC
    1 -- ds50010--------
    rs95535671,2
    C,F,A,H--25820101(+) ATGGGC/TGGTTT 1 -- ds500135Minor allele frequency- T:0.41NS EA NA CSA WA 3410
    rs95074881,2
    C,F,H--25820189(+) tattgA/C/Gtatgc 1 -- ds500118NS EA NA CSA 2357
    rs1478745031,2
    C--25820360(+) ATAAC-/TAGAGTA 1 -- ut310--------
    rs1392446601,2
    --25820404(+) TCATGC/TTTACA 1 -- ut310--------
    rs164131,2
    C--25820556(+) TTTCT-/TTAA  
            
    TTAAT
    2 -- ut31 cds15Minor allele frequency- TTAA:0.34EU NA EA CSA 344
    rs1419936141,2
    C--25820556(+) TTTCT-/TTAA  
            
    TTAAT
    1 -- ut310--------

    HapMap Linkage Disequilibrium report for MTMR6 (25802307 - 25862147 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MTMR6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2629441CNV Deletion19546169
    esv2747161CNV Deletion23290073
    nsv820184CNV Loss19587683
    nsv526439CNV Loss19592680
    dgv1566n71CNV Gain21882294
    nsv899943CNV Gain21882294
    nsv435952OTHER Inversion17901297

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603561    OMIM disorders: --

    6 diseases for MTMR6:    About MalaCards
    centronuclear myopathy    charcot-marie-tooth disease    polycystic kidney disease    tooth disease
    kidney disease    myopathy

    2 diseases from the University of Copenhagen DISEASES database for MTMR6:
    Centronuclear myopathy     Charcot-Marie-Tooth disease

    MTMR6 for disorders           About GeneDecksing


    Export disorders for MTMR6 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 MTMR6 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with MTMR6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PubMed id 9736772)1, 2, 3 Laporte J....Mandel J.-L. (1998)
    2. The phosphatidylinositol 3-phosphate phosphatase myotubularin-related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1. (PubMed id 15831468)1, 2, 9 Srivastava S....Skolnik E.Y. (2005)
    3. Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells. (PubMed id 16847315)1, 2, 9 Srivastava S.... Skolnik E.Y. (2006)
    4. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. (PubMed id 12890864)1, 2 Mochizuki Y. and Majerus P.W. (2003)
    8. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. (PubMed id 19038970)1, 9 Zou J....Majerus P.W. (2009)
    9. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. (PubMed id 12646134)1, 9 Schaletzky J....Barr F.A. (2003)
    10. Phosphatidylinositol 3-phosphatase myotubularin-relate d protein 6 (MTMR6) is regulated by small GTPase Rab1B in the early secretory an d autophagic pathways. (PubMed id 23188820)1 Mochizuki Y....Hamakubo T. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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      (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: 9107 HGNC: 7453 AceView: MTMR6 Ensembl:ENSG00000139505 euGenes: HUgn9107
    ECgene: MTMR6 Kegg: 9107 H-InvDB: MTMR6

    (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 MTMR6 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 MTMR6 gene:
    Search GeneIP for patents involving MTMR6

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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