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

MTMR7 Gene

protein-coding   GIFtS: 58
GCID: GC08M017203

Myotubularin Related Protein 7

  See related disease
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 71 2
Myotubularin-Related Protein 72
EC 3.1.3.-3
EC 3.1.38
EC 3.1.3.188
EC 3.1.3.488

External Ids:    HGNC: 74541   Entrez Gene: 91082   Ensembl: ENSG000000039877   OMIM: 6035625   UniProtKB: Q9Y2163   

Export aliases for MTMR7 gene to outside databases

Previous GC identifers: GC08M017052 GC08M017239 GC08M017169 GC08M015699


(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 MTMR7 Gene:
This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded
protein is characterized by four distinct domains that are conserved among all members of the myotubularin
family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment
domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of
variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target
substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on
chromosome 5. (provided by RefSeq, Mar 2009)

GeneCards Summary for MTMR7 Gene: 
MTMR7 (myotubularin related protein 7) is a protein-coding gene. Diseases associated with MTMR7 include idiopathic generalized epilepsy, and among its related super-pathways are Metabolic pathways and Synthesis of PIPs at the plasma membrane. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is MTMR4.

UniProtKB/Swiss-Prot: MTMR7_HUMAN, Q9Y216
Function: Phosphatase that acts on lipids with a phosphoinositol headgroup (Probable)




(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_000008.10  NC_018919.2  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MTMR7 gene promoter:
         AML1a   MyoD   Nkx2-5   XBP-1   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   POU2F1   POU2F1a   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTMR7 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTMR7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTMR7


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

Entrez Gene cytogenetic band: 8p22   Ensembl cytogenetic band:  8p22   HGNC cytogenetic band: 8p22

MTMR7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR7 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M017203:  view genomic region     (about GC identifiers)

Start:
17,154,306 bp from pter      End:
17,271,040 bp from pter
Size:
116,735 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: MTMR7_HUMAN, Q9Y216 (See protein sequence)
Recommended Name: Myotubularin-related protein 7  
Size: 660 amino acids; 75833 Da
Subunit: Interacts with MTMR6, MTMR8 and MTMR9
Subcellular location: Cytoplasm
Secondary accessions: A1L4K9 B4DG87 Q68DX4
Alternative splicing: 2 isoforms:  Q9Y216-1   Q9Y216-2   

Explore the universe of human proteins at neXtProt for MTMR7: NX_Q9Y216

Explore proteomics data for MTMR7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y216

  • 4/11 DME Specific Peptides for MTMR7 (Q9Y216) (see all 11)
     LQAIRKA  VGSSKFRS  FEFNERFL  WISFGHKF 

    MTMR7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTMR7 Protein Expression
    REFSEQ proteins: NP_004677.3  
    ENSEMBL proteins: 
     ENSP00000180173   ENSP00000429733   ENSP00000431000   ENSP00000381171  
    Reactome Protein details: Q9Y216
    Human Recombinant Protein Products for MTMR7: 
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    Novus Biologicals MTMR7 Lysate
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    Cloud-Clone Corp. Proteins for MTMR7 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--

    MTMR7 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

    5 InterPro protein domains:
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotub-related
     IPR016130 Tyr_Pase_AS
     IPR011993 PH_like_dom
     IPR000387 Tyr/Dual-sp_Pase

    Graphical View of Domain Structure for InterPro Entry Q9Y216

    ProtoNet protein and cluster: Q9Y216

    1 Blocks protein domain: IPB010569 Myotubularin-related

    UniProtKB/Swiss-Prot: MTMR7_HUMAN, Q9Y216
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 myotubularin phosphatase domain


    MTMR7 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: MTMR7_HUMAN, Q9Y216
    Function: Phosphatase that acts on lipids with a phosphoinositol headgroup (Probable)

         Genatlas biochemistry entry for MTMR7:
    myotubularin related protein 7,only expressed in brain

         Enzyme Numbers (IUBMB): EC 3.1.32 EC 3.1.3.482 EC 3.1.3.-1 EC 3.1.3.182

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity IEA--
    GO:0005515protein binding ----
    GO:0016791phosphatase activity ----
         
    MTMR7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MTMR7:
     Increased apoptosis 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTMR7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MTMR7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTMR7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTMR7 

    miRNA
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    hsa-miR-623 hsa-miR-4328 hsa-miR-4263 hsa-miR-570 hsa-miR-10b* hsa-miR-3161 hsa-miR-204 hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidMTMR7 3' UTR sequence
    Inhib. RNA
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    (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 MTMR7 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    2PI Metabolism
    PI Metabolism0.66
    3Synthesis of PIPs at the early endosome membrane
    Synthesis of PIPs at the late endosome membrane0.64
    4Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64
    5Fructose and mannose metabolism
    Fructose and mannose metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5        Reactome Pathways for MTMR7
        Metabolism
    Synthesis of PIPs at the late endosome membrane
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism


    1         Kegg Pathway  (Kegg details for MTMR7):
        Fructose and mannose metabolism


    MTMR7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MTMR7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for MTMR7 (Q9Y2163 ENSP000001801734) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTMR9Q96QG73, ENSP000002210864I2D: score=3 STRING: ENSP00000221086
    FIG4ENSP000002301244STRING: ENSP00000230124
    PIKFYVEENSP000002643804STRING: ENSP00000264380
    VAC14ENSP000002617764STRING: ENSP00000261776
    HK2ENSP000002905734STRING: ENSP00000290573
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation TAS9736772
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0016311dephosphorylation ----
    GO:0035335peptidyl-tyrosine dephosphorylation TAS9736772

    MTMR7 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTMR7

    Search CenterWatch for drugs/clinical trials and news about MTMR7

    (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 MTMR7 gene: 
    NM_004686.4  

    Unigene Cluster for MTMR7:

    Myotubularin related protein 7
    Hs.625674  [show with all ESTs]
    Unigene Representative Sequence: NM_004686
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000180173(uc011kya.2 uc011kyb.2 uc003wxm.3) ENST00000521857(uc003wxn.3)
    ENST00000519590 ENST00000519763 ENST00000517317 ENST00000519122 ENST00000518272
    ENST00000523571 ENST00000521177 ENST00000398099
    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate MTMR7 (see all 17):
    hsa-miR-623 hsa-miR-4328 hsa-miR-4263 hsa-miR-570 hsa-miR-10b* hsa-miR-3161 hsa-miR-204 hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidMTMR7 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTMR7
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR7
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTMR7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTMR7

    Additional mRNA sequence: 

    AF073482.1 AK123201.1 AK294468.1 AK303762.1 AK303803.1 AK316022.1 AK316283.1 BC130577.1 
    BC130579.1 CR749240.1 

    7 DOTS entries:

    DT.100740206  DT.437095  DT.40260165  DT.97774519  DT.99992327  DT.40293001  DT.95359466 

    24/31 AceView cDNA sequences (see all 31):

    BE503993 BQ025062 Z38231 BF056429 AL120353 BM353520 Z41938 BM668308 
    BE503190 CB993268 CR749240 AK123201 BM991688 AW510955 BE929281 AA059046 
    AW014721 AF073482 M85620 AV730977 BU952518 BU951075 D53659 AA020868 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MTMR7    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                          -           -                                                         
    SP2:                                      -                                                         
    SP3:                                                                                                
    SP4:        -                 -                                                                     


    ECgene alternative splicing isoforms for MTMR7

    (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

    MTMR7 expression in normal human tissues (normalized intensities)      MTMR7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MTMR7 Expression
    About this image


    MTMR7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             ganglion/cranial/facial VII   
     
     Tooth
             visceral organ/oral region/upper jaw   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Nkx2-1 GFP+ cells ( Efficient derivation of purified lung and thyroid progenitor...
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             autonomic/sympathetic/ganglion   
     
     Eye (Sensory Organs)
             Retina

    See MTMR7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTMR7

    SOURCE GeneReport for Unigene cluster: Hs.625674

    UniProtKB/Swiss-Prot: MTMR7_HUMAN, Q9Y216
    Tissue specificity: Expressed specifically in brain

        SABiosciences Custom PCR Arrays for MTMR7
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR7

    (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 MTMR7 gene from 7/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtmr71 , 5 myotubularin related protein 71, 5 88.94(n)1
    94.55(a)1
      8 (23.89 cM)5
    543841  NM_001040699.11  NP_001035789.11 
     405510955 
    chicken
    (Gallus gallus)
    Aves MTMR71 myotubularin related protein 7 79.54(n)
    88.31(a)
      422731  XM_420686.3  XP_420686.3 
    lizard
    (Anolis carolinensis)
    Reptilia MTMR76
    myotubularin related protein 7
    86(a)
    1 ↔ 1
    5(108260003-108318049)
    zebrafish
    (Danio rerio)
    Actinopterygii BC053411.12   -- 72.75(n)   393365  BC053411.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG35306
    --
    41(a)
    1 → many
    2R(19276524-19284202)
    worm
    (Caenorhabditis elegans)
    Secernentea mtm-66
    Protein MTM-6, isoform a
    32(a)
    1 → many
    III(13347085-13356367)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YMR16
    Phosphatidylinositol 3-phosphate (PI3P) phosphatas...
    28(a)
    1 → many
    X(633615-635681)


    ENSEMBL Gene Tree for MTMR7 (if available)
    TreeFam Gene Tree for MTMR7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTMR7 gene
    MTMR42  MTMR122  MTMR22  MTMR102  MTM12  MTMR82  MTMR32  MTMR62  
    SBF22  MTMR92  MTMR112  SBF12  MTMR12  
    6 SIMAP similar genes for MTMR7 using alignment to 4 protein entries:     MTMR7_HUMAN (see all proteins):
    MTMR6    MTMR8    MTM1    MTMR2    MTMR9    MTMR1

    MTMR7 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

    10/3548 SNPs in MTMR7 are shown (see all 3548)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998197621,2
    Cuntested117198899(+) TAAACG/AAAGTC 2 /F syn11Minor allele frequency- A:0.00EU 1323
    rs1928886561,2
    --17156055(+) CCATTA/TAAAAA 1 -- ut310--------
    rs22461211,2
    C,F,A--17156293(+) TAGGGG/CAGGGA 1 -- ut31 ese3 trp37Minor allele frequency- C:0.46NA WA CSA EA 365
    rs22852711,2
    C,F--17156298(+) GAGGGA/GCTCTC 1 -- ut31 trp35Minor allele frequency- G:0.28NA WA EA 362
    rs1832058761,2
    --17156303(+) ACTCTC/TCCTTA 1 -- ut310--------
    rs1417202611,2
    C--17156385(+) GGTTAA/CTTAAA 1 -- ut310--------
    rs284342341,2
    C,F,H--17156393(+) AAACCA/GTATTA 1 -- ut3117Minor allele frequency- G:0.12NS EA NA WA 2338
    rs1882744391,2
    --17156410(+) TACATA/CATTTC 1 -- ut310--------
    rs1911251871,2
    --17156572(+) CTGTCA/GGTAGT 1 -- ut310--------
    rs1172994911,2
    F--17156603(+) AAAAGG/ATTATT 1 -- ut311Minor allele frequency- A:0.02NA 120

    HapMap Linkage Disequilibrium report for MTMR7 (17154306 - 17271040 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for MTMR7 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2736687CNV Deletion23290073
    esv4778CNV Deletion18987735
    esv272688CNV Insertion20981092
    nsv6097CNV Insertion18451855
    esv270628CNV Insertion20981092
    nsv470200CNV Loss18288195
    nsv890557CNV Loss21882294
    nsv465590CNV Loss19166990
    nsv518761CNV Loss19592680
    nsv890556CNV Loss21882294

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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: 603562    OMIM disorders: --

    2 diseases for MTMR7:    About MalaCards
    idiopathic generalized epilepsy    


    MTMR7 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MTMR7
    Human Genome Epidemiology (HuGE) Navigator: MTMR7 (1 document)

    Export disorders for MTMR7 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 MTMR7 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with MTMR7)
        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. Genome-wide study links MTMR7 gene to variant Creutzfe ldt-Jakob risk. (PubMed id 22137330)1, 4 Sanchez-Juan P....van Duijn C.M. (2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. (PubMed id 12890864)1, 3 Mochizuki Y. and Majerus P.W. (2003)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    8. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. (PubMed id 16787938)2 Lorenzo O.... Clague M.J. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 9108 HGNC: 7454 AceView: MTMR7 Ensembl:ENSG00000003987 euGenes: HUgn9108
    ECgene: MTMR7 Kegg: 9108 H-InvDB: MTMR7

    (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 MTMR7 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 MTMR7 gene:
    Search GeneIP for patents involving MTMR7

    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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