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

MTMR7 Gene

protein-coding   GIFtS: 57
GCID: GC08M017203

myotubularin related protein 7
 Explore 1 disease affiliated with
MTMR7 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MTMR7    

Aliases
for MTMR7 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for MTMR7 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MTMR7:
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)

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




Genomic Views
for MTMR7 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  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 plasmid: MTMR7 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

Proteins
for MTMR7 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004677.3  
    ENSEMBL proteins: 
     ENSP00000180173   ENSP00000429733   ENSP00000431000   ENSP00000381171  
    Reactome Protein details: Q9Y216
    Human Recombinant Protein Products: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: MTMR7
    OriGene Protein Over-expression Lysate: MTMR7
    OriGene Custom Protein Services for MTMR7 
    GenScript Custom Purified and Recombinant Proteins Services for MTMR7
    Novus Biologicals MTMR7 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MTMR7

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--


    MTMR7 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MTMR7

    Protein Domains /
    Families
    for MTMR7 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MTMR7 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q9Y216

    ProtoNet protein and cluster: Q9Y216

    1 Blocks protein family: 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


    Function
    for MTMR7 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: MTMR7
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTMR7
    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 plasmid: MTMR7 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTMR7 (see all 7)
    OriGene shRNA RFP: MTMR7
    OriGene siRNA: MTMR7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTMR7

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MTMR7

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTMR7 (see all 4)
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    GenScript: all cDNA clones in your preferred vector: MTMR7 (NM_004686)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR7 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for MTMR7
    Search LifeMap BioReagents cell lines for MTMR7

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR7

    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


    1 GenomeRNAi human phenotype for MTMR7:
     Increased apoptosis 


    Pathways & Interactions
    for MTMR7 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    2Fructose and mannose metabolism
    		Fructose and mannose metabolism1.00
    3PI Metabolism
    		PI Metabolism1.00
    4Glycerophospholipid biosynthesis
    		Phospholipid metabolism0.64
    5Synthesis of PIPs at the Golgi membrane
    		Synthesis of PIPs at the late endosome membrane0.20

    Pathway sources
    See GeneCards unified pathways
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation TAS9736772
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0035335peptidyl-tyrosine dephosphorylation TAS9736772
    GO:0044281small molecule metabolic process TAS--


    MTMR7 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MTMR7 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    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 

    Transcripts
    for MTMR7 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    Products:             		 OriGene 3'-UTR Clone: MTMR7
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTMR7
    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 plasmid: MTMR7 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTMR7 (see all 7)
    OriGene shRNA RFP: MTMR7
    OriGene siRNA: MTMR7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTMR7
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTMR7 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTMR7
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    GenScript: all cDNA clones in your preferred vector: MTMR7 (NM_004686)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTMR7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR7 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTMR7
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MTMR7
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTMR7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTMR7

    Additional cDNA 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):

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

    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

    Expression
    for MTMR7 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTMR7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MTMR7 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    Primitive StreakNotochordPrimitive Streak
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Nkx2-1 GFP+ cells (Efficient derivation...)

    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
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTMR7
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR7

    Orthologs
    for MTMR7 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTMR7 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 86(a)
    		 1 ↔ 1
    		 5(108260003-108300328)
    zebrafish
    (Danio rerio)    		 Actinopterygii BC053411.12   -- 72.75(n)   393365  BC053411.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG35306
    		 --
    		 40(a)
    		 1 → many
    		 2R(19276524-19284202)
    worm
    (Caenorhabditis elegans)    		 Secernentea mtm-66
    		 MTM (myotubularin) family member (mtm-6)
    		 32(a)
    		 1 → many
    		 III(13346984-13356266)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G045406
    MTM16
    		 Myotubularin-like phosphatases II-like protein
    		 22(a)
    21(a)
    		 many ↔ many
    many ↔ many
    		 5(1296442-1302444)
    3(3292899-3298522)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 inositol or phosphatidylinositol phosphatase/ phos...
    		 22(a)
    		 1 → many
    		 8(27856282-27865603)


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

    Paralogs
    for MTMR7 gene

    (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  SBF22  
    MTMR62  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



    Genomic Variants
    for MTMR7 gene

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

    10/3096 NCBI SNPs in MTMR7 are shown (see all 3096)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1998197621,2
    		Cother17198899(+) TAAACG/AAAGTC 2 /F syn11Minor allele frequency- A:0.00EU 1323
    rs720482811,2
    		C--15715917(+) TCTGG-/AAGC  
                AAGCC     		1 -- int10--------
    rs1499664751,2
    		--17153835(+) GACACC/TGTGCT 3 -- ut31 ds50010--------
    rs1181214661,2
    		C,F,--17154013(+) CAGCAG/ATTACA 3 -- ds5001 ut311Minor allele frequency- A:0.02NA 120
    rs1814120601,2
    		--17154033(+) GATAGA/GACAGT 3 -- ds5001 ut310--------
    rs115557371,2
    		C,F,H,--17154043(+) TCTCAA/GTCTTT 3 -- ut31 ds500116Minor allele frequency- G:0.07NS EA NA CSA 1943
    rs7098481,2
    		C,F,A,H,--17154056(+) CCAACA/CATCAG 3 -- ut31 ds500134Minor allele frequency- N:0.00MN NS EA NA WA CSA 3344
    rs1868519961,2
    		--17154175(+) ATAAGG/TCATTG 3 -- ut31 ds50010--------
    rs732085981,2
    		C,F,--17154292(+) TACATA/GATCAC 3 -- ut31 ds50012Minor allele frequency- G:0.07NA EA 240
    rs1897629741,2
    		--17154467(+) TGTATC/GTCACC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for MTMR7 (17154306 - 17271040 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for MTMR7
         3 Indels: 13033 42452 62781
         1 Inversion: 59849

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    Disorders / Diseases
    for MTMR7 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MTMR7 for disorders           About GeneDecksing

    OMIM gene information: 603562    OMIM disorders: --

    1 disease for MTMR7:    About MalaCards
    genetic disease

    1 disease from the University of Copenhagen DISEASES database for MTMR7:
    Idiopathic generalized epilepsy
    Human Genome Epidemiology (HuGE) Navigator: MTMR7 (1 document)

    Export disorders for MTMR7 gene to outside databases

    Publications
    for MTMR7 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MTMR7 gene, integrated from 9 sources (see all 13):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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)
    4. Genome-wide study links MTMR7 gene to variant Creutzfe ldt-Jakob risk. (PubMed id 22137330)1 Sanchez-Juan P....van Duijn C.M. (2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. (PubMed id 16787938)2 Lorenzo O.... Clague M.J. (2006)
    9. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    External Searches for MTMR7 gene

    (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)

    Genome Databases showing MTMR7 gene

    (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

    Other Databases showing MTMR7 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MTMR7 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MTMR7 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MTMR7 gene

    (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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