Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MTMR2 Gene

protein-coding   GIFtS: 68
GCID: GC11M095566

Myotubularin Related Protein 2


(Previous symbol: CMT4B)
  See MTMR2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Myotubularin Related Protein 21 2     KIAA10733
CMT4B1 2     EC 3.1.38
CMT4B12 5     EC 3.1.3.28
Myotubularin-Related Protein 22     EC 3.1.3.488
EC 3.1.3.-3     

External Ids:    HGNC: 74501   Entrez Gene: 88982   Ensembl: ENSG000000870537   OMIM: 6035575   UniProtKB: Q136143   
ORGUL members:         

Export aliases for MTMR2 gene to outside databases

Previous GC identifers: GC11M097896 GC11M097073 GC11M095750 GC11M095254 GC11M095205 GC11M091631


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

TryGeneCards Plus

Entrez Gene summary for MTMR2 Gene:
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein
possesses phosphatase activity towards phosphatidylinositol-3-phosphate and
phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B,
an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple
isoforms have been found for this gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for MTMR2 Gene:
MTMR2 (myotubularin related protein 2) is a protein-coding gene. Diseases associated with MTMR2 include charcot-marie-tooth neuropathy type 4b1, and charcot-marie-tooth disease type 4b1. GO annotations related to this gene include protein tyrosine/serine/threonine phosphatase activity and protein homodimerization activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot: MTMR2_HUMAN, Q13614
Function: Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards
phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate

Gene Wiki entry for MTMR2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTMR2 gene promoter:
         LHX3b/Lhx3b   Elk-1   GATA-3   Nkx2-2   STAT5A   E4BP4   GATA-2   GATA-1   c-Ets-1   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTMR2 promoter sequence
   Search Chromatin IP Primers for MTMR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTMR2


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

Entrez Gene cytogenetic band: 11q22   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q22

MTMR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M095566:  view genomic region     (about GC identifiers)

Start:
95,566,044 bp from pter      End:
95,658,479 bp from pter
Size:
92,436 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MTMR2_HUMAN, Q13614 (See protein sequence)
Recommended Name: Myotubularin-related protein 2  
Size: 643 amino acids; 73381 Da
Subunit: Homooligomer and heterooligomer. Interacts with SBF1 and SBF2
Sequence caution: Sequence=BAA83025.2; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for MTMR2:
1LW3 (3D)        1M7R (3D)        1ZSQ (3D)        1ZVR (3D)    
Secondary accessions: A6NN98 Q9UPS9
Alternative splicing: 2 isoforms:  Q13614-1   Q13614-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MTMR2: NX_Q13614

Explore proteomics data for MTMR2 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MTMR2 (Q13614) (see all 40)
     YRTIRGF  VYPNIEE  VLYPVAS  RIPVLSW 


    See MTMR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001230500.1  NP_057240.3  NP_958435.1  NP_958438.1  

    ENSEMBL proteins: 
     ENSP00000345752   ENSP00000386882   ENSP00000343737   ENSP00000396020   ENSP00000376915  
    Reactome Protein details: Q13614

    MTMR2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for MTMR2
    OriGene Protein Over-expression Lysate for MTMR2
    OriGene MassSpec for MTMR2
    OriGene Custom Protein Services for MTMR2
    GenScript Custom Purified and Recombinant Proteins Services for MTMR2
    Novus Biologicals MTMR2 Proteins
    Novus Biologicals MTMR2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTMR2

     
    Search eBioscience for Proteins for MTMR2 

     
    antibodies-online proteins for MTMR2 (4 products) 

     
    antibodies-online peptides for MTMR2

    MTMR2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MTMR2
    OriGene Custom Antibody Services for MTMR2
    Novus Biologicals MTMR2 Antibodies
    Abcam antibodies for MTMR2
    Cloud-Clone Corp. Antibodies for MTMR2
    ThermoFisher Antibodies for MTMR2
    antibodies-online antibodies for MTMR2 (35 products) 

    MTMR2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MTMR2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MTMR2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MTMR2
    Cloud-Clone Corp. CLIAs for MTMR2
    Search eBioscience for ELISAs for MTMR2 
    antibodies-online kits for MTMR2 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    DUSPM: Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

    Selected InterPro protein domains (see all 6):
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotubularin-like_Pase_dom
     IPR016130 Tyr_Pase_AS
     IPR011993 PH_like_dom
     IPR000387 Tyr/Dual-sp_Pase

    Graphical View of Domain Structure for InterPro Entry Q13614

    ProtoNet protein and cluster: Q13614

    2 Blocks protein domains:
    IPB004182 GRAM domain
    IPB010569 Myotubularin-related


    UniProtKB/Swiss-Prot: MTMR2_HUMAN, Q13614
    Domain: The coiled-coil domain mediates interaction with SBF2
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 GRAM domain
    Similarity: Contains 1 myotubularin phosphatase domain


    Find genes that share domains with MTMR2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTMR2_HUMAN, Q13614
    Function: Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards
    phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate
    Enzyme regulation: interaction with SBF1 increases phosphatase activity

         Genatlas biochemistry entry for MTMR2:
    myotubularin related protein 2,ubiquitously expressed

         Enzyme Numbers (IUBMB): EC 3.1.32 EC 3.1.3.482 EC 3.1.3.-1 EC 3.1.3.22

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity IEA--
    GO:0005515protein binding IPI12837694
    GO:0008138protein tyrosine/serine/threonine phosphatase activity NAS9736772
    GO:0016791phosphatase activity ----
    GO:0042803protein homodimerization activity IEA--
         
    Find genes that share ontologies with MTMR2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MTMR2:
     Decreased focal adhesion (FA)   Increased Akt phosphorylation  

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mtmr2):
     behavior/neurological  growth/size/body  limbs/digits/tail  mortality/aging  nervous system 
     normal  reproductive system 

    Find genes that share phenotypes with MTMR2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MTMR2: Mtmr2tm1Ueli Mtmr2tm1.1Abol

       genOway: Develop your customized and physiologically relevant rodent model for MTMR2

    miRNA
    Products:
        
    miRTarBase miRNAs that target MTMR2:
    hsa-mir-34a-5p (MIRT047348)

    Block miRNA regulation of human, mouse, rat MTMR2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR2 (see all 36):
    hsa-miR-323-3p hsa-miR-142-5p hsa-miR-106a hsa-miR-139-5p hsa-miR-508-3p hsa-miR-223 hsa-miR-9 hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidMTMR2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MTMR2
    Predesigned siRNA for gene silencing in human, mouse, rat MTMR2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MTMR2

    Clone
    Products:
         
    OriGene clones in human, mouse for MTMR2 (see all 18)
    OriGene ORF clones in mouse, rat for MTMR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MTMR2 (NM_201281)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTMR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MTMR2
    Browse ESI BIO Cell Lines and PureStem Progenitors for MTMR2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR2


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

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MTMR2_HUMAN, Q13614: Cytoplasm. Early endosome membrane; Peripheral membrane protein. Note=Partly associated with
    membranes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    nucleus5
    cytoskeleton3
    cytosol3
    vacuole2
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12837694
    GO:0005737cytoplasm IDA12837694
    GO:0005774vacuolar membrane IEA--
    GO:0005829cytosol TAS--
    GO:0008021synaptic vesicle ISS--

    Find genes that share ontologies with MTMR2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for MTMR2 About    
    See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the early endosome membrane0.00
    Synthesis of PIPs at the late endosome membrane0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    4Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64


    Find genes that share SuperPaths with MTMR2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MTMR2
        Sertoli-Sertoli Cell Junction Dynamics
    Germ Cell-Sertoli Cell Junction Dynamics

    2 Reactome Pathways for MTMR2
        Synthesis of PIPs at the late endosome membrane
    Synthesis of PIPs at the early endosome membrane


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTMR2
    Interactions:

        GeneGlobe Interaction Network for MTMR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MTMR2 (Q136141, 2, 3 ENSP000003457524) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEFLP071961, 3EBI-475631,EBI-475646 I2D: score=2 
    MTMR12Q9C0I12, 3, ENSP000003715774MINT-8217155 I2D: score=1 STRING: ENSP00000371577
    SBF1O952483, ENSP000003750974I2D: score=4 STRING: ENSP00000375097
    KBTBD7Q8WVZ93I2D: score=1 
    SNTA1Q134243I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002091negative regulation of receptor internalization ISS--
    GO:0006470protein dephosphorylation NAS9736772
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0016311dephosphorylation ----

    Find genes that share ontologies with MTMR2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for MTMR2

    4 Novoseek inferred chemical compound relationships for MTMR2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 3-phosphate 77.9 4 15998640 (1), 12646134 (1)
    phosphoinositide 58.4 5 12687498 (1), 16410353 (1), 15690393 (1), 14690594 (1)
    phosphatidylinositol 25.5 8 14530412 (2), 18429927 (1)
    tyrosine 7.99 2 17880751 (1), 15690393 (1)



    Find genes that share compounds with MTMR2           About GenesLikeMe



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

    TryGeneCards Plus

    REFSEQ mRNAs for MTMR2 gene (4 alternative transcripts): 
    NM_001243571.1  NM_016156.5  NM_201278.2  NM_201281.2  

    Unigene Cluster for MTMR2:

    Myotubularin related protein 2
    Hs.181326  [show with all ESTs]
    Unigene Representative Sequence: NM_001243571
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346299(uc001pfu.3) ENST00000409459 ENST00000352297(uc010ruj.1)
    ENST00000444541 ENST00000484818 ENST00000495134 ENST00000485740 ENST00000472423
    ENST00000497683 ENST00000470293 ENST00000481642 ENST00000470011 ENST00000469574
    ENST00000485988 ENST00000393223(uc001pfv.3 uc001pfs.3 uc001pft.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MTMR2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR2 (see all 36):
    hsa-miR-323-3p hsa-miR-142-5p hsa-miR-106a hsa-miR-139-5p hsa-miR-508-3p hsa-miR-223 hsa-miR-9 hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidMTMR2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MTMR2
    Predesigned siRNA for gene silencing in human, mouse, rat MTMR2
    Clone
    Products:
         
    OriGene clones in human, mouse for MTMR2 (see all 18)
    OriGene ORF clones in mouse, rat for MTMR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MTMR2 (NM_201281)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTMR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MTMR2
    OriGene qSTAR qPCR primer pairs in human, mouse for MTMR2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTMR2
      QuantiTect SYBR Green Assays in human, mouse, rat MTMR2
      QuantiFast Probe-based Assays in human, mouse, rat MTMR2

    Additional mRNA sequence: 

    AB028996.1 AK027038.1 AK291277.1 AK302940.1 BC012086.1 BC034474.1 BC040432.1 BC052990.1 
    BX647997.1 U58033.1 

    22 DOTS entries:

    DT.213150  DT.91898838  DT.100686402  DT.100789628  DT.100695905  DT.100789633  DT.100789625  DT.92434316 
    DT.100789626  DT.100789629  DT.120737266  DT.75122305  DT.120737253  DT.120737323  DT.100701717  DT.100789630 
    DT.100789631  DT.102831700  DT.120737250  DT.120737352  DT.120737358  DT.95325184 

    Selected AceView cDNA sequences (see all 170):

    AL601200 CA446130 CD518351 AA830351 AI815715 BM770601 F09012 BF109923 
    BC040432 BM741892 CB306764 BC012086 BG034498 BM753519 AW505463 BP358035 
    N26248 NM_201278 F11352 AI354370 AL705005 BM750739 BU683583 BQ959551 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MTMR2    About this scheme

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


    ECgene alternative splicing isoforms for MTMR2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    MTMR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTACCACAA
    MTMR2 Expression
    About this image

    MTMR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTMR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.181326
        Custom PCR Arrays for MTMR2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MTMR2
    OriGene qSTAR qPCR primer pairs in human, mouse for MTMR2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTMR2
    QuantiTect SYBR Green Assays in human, mouse, rat MTMR2
    QuantiFast Probe-based Assays in human, mouse, rat MTMR2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR2

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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTMR2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtmr21 , 5 myotubularin related protein 21, 5 90.72(n)1
    97.36(a)1
      9 (3.44 cM)5
    771161  NM_023858.31  NP_076347.31 
     137484105 
    chicken
    (Gallus gallus)
    Aves MTMR21 myotubularin related protein 2 81.73(n)
    96.15(a)
      418992  NM_001039274.1  NP_001034363.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTMR26
    myotubularin related protein 2
    93(a)
    1 ↔ 1
    3(195311323-195343730)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mtmr21 myotubularin related protein 2 72.81(n)
    80.88(a)
      100494494  XM_002935577.2  XP_002935623.2 
    zebrafish
    (Danio rerio)
    Actinopterygii mtmr22 myotubularin related protein 2 76.84(n)   30644  AF073883.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta myotubularin3
    mtm1
    protein amino acid dephosphorylation
    protein tyrosine/serine/threonine
    more3
    myotubularin1
    60(a)3
    57.03(n)1
    58.86(a)1
      26B43
    338451  NM_078765.31  NP_523489.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y110A7A.53 myotubularin-like protein 45(a)
    (best of 3)
      I(5134893-5137842)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G045401 AT5G04540 47.8(n)
    40.63(a)
      830333  NM_120536.4  NP_196074.2 
    rice
    (Oryza sativa)
    Liliopsida Os.187642 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.38(n)    AK099902.1 


    ENSEMBL Gene Tree for MTMR2 (if available)
    TreeFam Gene Tree for MTMR2 (if available)

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

    TryGeneCards Plus
    Paralogs for MTMR2 gene
    MTMR72  MTMR42  MTMR122  MTMR102  MTM12  MTMR82  MTMR32  MTMR62  
    SBF22  MTMR92  MTMR112  SBF12  MTMR12  
    10 SIMAP similar genes for MTMR2 using alignment to 2 protein entries:     MTMR2_HUMAN (see all proteins):
    MTMR1    MTM1    MTMR6    MTMR8    DKFZp434K171    MTMR7
    MTMR9    MTMR3    MTMR10    MTMR4

    Find genes that share paralogs with MTMR2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MTMR2 (see all 1792)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0479474
    Charcot-Marie-Tooth disease 4B1 (CMT4B1)4--see VAR_0479472 R W mis40--------
    rs1214344031,2
    Cpathogenic195453819(-) ATCCTG/TAAAGT 8 E * stg10--------
    rs1995084321,2
    C--91651998(+) ATATA-/TAATATA 4 -- int10--------
    rs4703771,2
    C,A--91652007(-) atataA/Ttatat 4 -- int11Minor allele frequency- T:0.00WA 2
    rs721595011,2
    C--91652007(+) TATAA-/AT/TA 
            
    TATAT
    4 -- int10--------
    rs12548131,2
    C,F--91669701(-) aaaaaG/Aaaaaa 4 -- int1 trp34Minor allele frequency- A:0.48NA WA EA 244
    rs2017871111,2
    C--91669701(+) CTTTT-/CTTTTT 4 -- int10--------
    rs1432426281,2
    C--91696012(+) CCATT-/ACACTG 4 -- int10--------
    rs106545041,2
    C--91698590(+) TGGTT-/A/AA  
            
    AAAAA
    4 -- int1 trp31CSA 2
    rs342607021,2
    C--91698601(+) AAAAA-/A/AA  
            
    ACTAC
    4 -- int11NA 2

    HapMap Linkage Disequilibrium report for MTMR2 (95566044 - 95658479 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MTMR2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv269241CNV Insertion20981092
    nsv832235CNV Gain17160897

    Human Gene Mutation Database (HGMD): MTMR2
    Locus Specific Mutation Databases (LSDB): MTMR2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTMR2
    DNA2.0 Custom Variant and Variant Library Synthesis for MTMR2

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

    TryGeneCards Plus
    OMIM gene information: 603557   
    OMIM disorders: 601382  
    UniProtKB/Swiss-Prot: MTMR2_HUMAN, Q13614
  • Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382]: A recessive demyelinating form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth
    disease is classified in two main groups on the basis of electrophysiologic properties and histopathology:
    primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary
    peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve
    conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations
    on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow
    feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for MTMR2:    
    About MalaCards
    charcot-marie-tooth neuropathy type 4b1    charcot-marie-tooth disease type 4b1    charcot-marie-tooth neuropathy type 4b2    early-onset glaucoma
    charcot-marie-tooth neuropathy type 4    charcot-marie-tooth disease type 4    centronuclear myopathy    tooth disease
    charcot-marie-tooth disease    neuropathy

    2 diseases from the University of Copenhagen DISEASES database for MTMR2:
    Neuropathy     Myopathy

    Find genes that share disorders with MTMR2           About GenesLikeMe

    7 Novoseek inferred disease relationships for MTMR2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cmt4b 98.9 29 8817346 (3), 17880751 (2), 11354824 (2), 15998640 (2) (see all 18)
    charcot-marie-tooth disease 92.7 18 12398840 (3), 11354824 (2), 18429927 (1), 14565969 (1) (see all 13)
    centronuclear myopathy 87.5 5 12687498 (1), 15831468 (1), 12668758 (1), 12646134 (1) (see all 5)
    hereditary neuropathy 81.2 6 18957892 (1), 19718987 (1), 11335693 (1), 16399794 (1)
    sensory neuropathy 74.8 2 8817346 (1), 12668758 (1)
    demyelination 60.1 2 16399794 (1)
    glaucoma 32.9 2 15304601 (1), 12687498 (1)

    GeneTests: MTMR2
    GeneReviews: MTMR2
    Genetic Association Database (GAD): MTMR2
    Human Genome Epidemiology (HuGE) Navigator: MTMR2 (2 documents)

    Export disorders for MTMR2 gene to outside databases

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

    TryGeneCards Plus

    PubMed articles for MTMR2 gene, integrated from 10 sources (see all 76):
    (articles sorted by number of sources associating them with MTMR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. (PubMed id 12398840)1, 2, 4, 9 Nelis E.... Topaloglu H. (Neuromuscul. Disord. 2002)
    2. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PubMed id 9736772)1, 2, 3 Laporte J....Mandel J.-L. (Hum. Mol. Genet. 1998)
    3. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (PubMed id 8640223)1, 2, 3 Laporte J.... Dahl N. (Nat. Genet. 1996)
    4. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot- Marie-Tooth disease. (PubMed id 15998640)1, 2, 9 Robinson F.L. and Dixon J.E. (J. Biol. Chem. 2005)
    5. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. (PubMed id 12668758)1, 2, 9 Kim S.-A.... Dixon J.E. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    6. Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase. (PubMed id 16410353)1, 2, 9 Begley M.J....Dixon J.E. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    7. Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. (PubMed id 14690594)1, 2, 9 Begley M.J....Stuckey J.A. (Mol. Cell 2003)
    8. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. (PubMed id 10802647)1, 2, 9 Bolino A.... Monaco A.P. (Nat. Genet. 2000)
    9. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)1, 4, 9 Boerkoel C.F.... Lupski J.R. (Ann. Neurol. 2002)
    10. Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site. (PubMed id 21372139)1, 2 Franklin N.E.... Vacratsis P.O. (J. Biol. Chem. 2011)

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

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 8898 HGNC: 7450 AceView: MTMR2 Ensembl:ENSG00000087053 euGenes: HUgn8898
    ECgene: MTMR2 H-InvDB: MTMR2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1073

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MTMR2 Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MTMR2[genesymbol]

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

    TryGeneCards Plus
    Patent Information for MTMR2 gene:
    Search GeneIP for patents involving MTMR2

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



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

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MTMR2   OriGene RNAi products in human, mouse, rat for MTMR2  
     OriGene qPCR primer pairs and template standards for MTMR2   OriGene Protein Over-expression Lysate for MTMR2  
     OriGene MassSpec for MTMR2   OriGene clones in human, mouse for MTMR2  
     OriGene qSTAR qPCR primer pairs in human, mouse for MTMR2   OriGene Purified Protein for MTMR2  
     OriGene ORF clones in mouse, rat for MTMR2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MTMR2   OriGene Custom Protein Services for MTMR2  

     
     
     Block miRNA regulation of human, mouse, rat MTMR2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MTMR2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTMR2 Predesigned siRNA for gene silencing in human, mouse, rat MTMR2
     QuantiFast Probe-based Assays in human, mouse, rat MTMR2 QuantiTect SYBR Green Assays in human, mouse, rat MTMR2
     Custom PCR Arrays for MTMR2 Search Chromatin IP Primers for MTMR2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTMR2  GeneGlobe Interaction Network for MTMR2
     Regulatory tfbs in MTMR2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for MTMR2 GenScript cDNA clones with any tag delivered in your preferred vector for MTMR2
     GenScript Custom Assay Services for MTMR2 GenScript Custom overexpressing Cell Line Services for MTMR2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MTMR2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MTMR2 antibodies
     MTMR2 proteins
     MTMR2 lysates
     Antibodies for MTMR2
     See all of Abcam's Antibodies, Kits and Proteins for MTMR2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for MTMR2
     Antibodies for MTMR2
     ELISAs for MTMR2
     CLIAs for MTMR2



     Browse ESI BIO Cell Lines and PureStem Progenitors for MTMR2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR2
     SwitchGear 3'UTR luciferase reporter plasmids for MTMR2
     SwitchGear Promoter luciferase reporter plasmids for MTMR2
     ThermoFisher Antibodies for MTMR2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR2
     Browse compounds at ApexBio
     Search Addgene for plasmids for MTMR2
      Search eBioscience for proteins for MTMR2
      Search eBioscience for elisas for MTMR2
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for MTMR2
     antibodies-online antibodies for MTMR2 (35 products)
     antibodies-online kits for MTMR2 (8 products)
     antibodies-online peptides for MTMR2
     antibodies-online proteins for MTMR2 (4 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

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


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

    Hot genes      Disease genes      MTMR2 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4