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

MTMR2 Gene

protein-coding   GIFtS: 67
GCID: GC11M095566

myotubularin related protein 2


(Previous symbol: CMT4B)
 Explore 16 diseases affiliated with
MTMR2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MTMR2    

Aliases
for MTMR2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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     EC 3.1.3.-3
CMT4B1 2     EC 3.1.38
KIAA10731 3     EC 3.1.3.28
CMT4B12 5     EC 3.1.3.488
Myotubularin-Related Protein 22     

External Ids:    HGNC: 74501   Entrez Gene: 88982   Ensembl: ENSG000000870537   OMIM: 6035575   UniProtKB: Q136143   
ORGUL members:         
NONCODE:n406463    

Export aliases for MTMR2 gene to outside databases

Previous GC identifers: GC11M097896 GC11M097073 GC11M095750 GC11M095254 GC11M095205 GC11M091631


Summaries
for MTMR2 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 MTMR2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences 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 plasmid: MTMR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTMR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MTMR2 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: 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
Subcellular location: Cytoplasm. Early endosome membrane; Peripheral membrane protein. Note=Partly associated with
membranes
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

Post-translational modifications:

  • Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13614

    • 4/40 DME Specific Peptides for MTMR2 (Q13614) (see all 40)
     YRTIRGF  VYPNIEE  VLYPVAS  RIPVLSW 

    MTMR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals MTMR2 Proteins
    Novus Biologicals MTMR2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MTMR2

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    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--


    MTMR2 for ontologies           About GeneDecksing



    MTMR2 Antibody Products: 
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    Uscn Antibodies for MTMR2
    ThermoFisher Antibodies for MTMR2

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    Uscn ELISAs and CLIAs for MTMR2

    Protein Domains /
    Families
    for MTMR2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MTMR2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR016130 Tyr_Pase_AS
     IPR000387 Tyr/Dual-sp_Pase
     IPR017906 Myotubularin_phosphatase_dom
     IPR011993 PH_like_dom
     IPR004182 GRAM

    Graphical View of Domain Structure for InterPro Entry Q13614

    ProtoNet protein and cluster: Q13614

    2 Blocks protein families:
    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


    Function
    for MTMR2 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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 3): MTMR2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTMR2
    8/36 QIAGEN miScript miRNA 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 plasmid: MTMR2 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 MTMR2 (see all 7)
    OriGene shRNA RFP: MTMR2
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTMR2

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTMR2 (see all 6)
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    Cell Line
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    Search LifeMap BioReagents cell lines for MTMR2

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5 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 IPI12837694
    GO:0008138protein tyrosine/serine/threonine phosphatase activity NAS9736772
    GO:0042803protein homodimerization activity IEA--
    GO:0052866phosphatidylinositol phosphate phosphatase activity IEA--


    MTMR2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for MTMR2: Mtmr2tm1Ueli Mtmr2tm1.1Abol
         7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Mtmr2):
     behavior/neurological  growth/size  limbs/digits/tail  mortality/aging  nervous system 
     normal  reproductive system 

    MTMR2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MTMR2 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 - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    2Sertoli-Sertoli Cell Junction Dynamics
    		Sertoli-Sertoli Cell Junction Dynamics1.00
    		Germ Cell-Sertoli Cell Junction Dynamics0.38
    3Synthesis of PIPs at the Golgi membrane
    		Synthesis of PIPs at the late endosome membrane0.20
    		Synthesis of PIPs at the early endosome membrane0.15
    4PI Metabolism
    		PI Metabolism1.00
    5Fructose and mannose metabolism
    		Fructose and mannose metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    5/6        Reactome Pathways for MTMR2 (see all 6)
        Metabolism
    Synthesis of PIPs at the late endosome membrane
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism


    1         Kegg Pathway  (Kegg details for MTMR2):
        Fructose and mannose metabolism


    MTMR2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MTMR2

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

    5/22 Interacting proteins for MTMR2 (Q136141, 2, 3 ENSP000003457524) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    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): 5/18 biological process terms (GO ID links to tree view) (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 ----


    MTMR2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MTMR2 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

    MTMR2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MTMR2
    4 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about MTMR2 

    Transcripts
    for MTMR2 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 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
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    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
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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/170 AceView cDNA sequences (see all 170):

    AI360884 CD365842 BP358035 BM770252 F09012 AI354370 CB306764 BM741892 
    BC040432 AL601200 BG034498 AA830351 BQ012764 CA446130 BM753519 NM_201278 
    AI444968 AL705005 BM750739 BU683583 BM713476 BF109923 BM770601 BU739506 

    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

    Expression
    for MTMR2 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

    MTMR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTACCACAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See MTMR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTMR2

    SOURCE GeneReport for Unigene cluster: Hs.181326
        SABiosciences Custom PCR Arrays for MTMR2
    Primer
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    QIAGEN 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
    for MTMR2 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 MTMR2 gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 93(a)
    		 1 ↔ 1
    		 3(195311482-195343730)
    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
    56.7(n)1
    58.61(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 AT3G105501 Myotubularin-like phosphatases II-like protein 46.85(n)
    39.58(a)    		   820220  NM_111891.6  NP_187666.5 
    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
    for MTMR2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTMR2 gene
    MTMR72  MTMR42  MTMR122  MTMR102  MTM12  MTMR82  MTMR32  MTMR92  
    SBF22  MTMR62  MTMR112  SBF12  MTMR12  
    10 SIMAP similar genes for MTMR2 using alignment to 2 protein entries:     MTMR2_HUMAN (see all proteins):
    MTMR1    MTM1    MTMR8    MTMR6    DKFZp434K171    MTMR7
    MTMR9    MTMR3    MTMR10    MTMR4

    MTMR2 for paralogs           About GeneDecksing



    Genomic Variants
    for MTMR2 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

    10/1482 NCBI SNPs in MTMR2 are shown (see all 1482)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1214344031,2
    		Cpathogenic141725210(-) ATCCTG/TAAAGT 8 E * stg10--------
    rs122751651,2
    		C,F,H,--91631639(+) AAATTG/ATATAA 4 -- ds500122Minor allele frequency- A:0.16NS EA NA WA CSA 2474
    rs169226131,2
    		C,F,H,--91631847(+) CTTACG/ATTGTA 4 -- ut31 ese316Minor allele frequency- A:0.02NA NS EA 2132
    rs5264321,2
    		H--91631868(-) TGAATT/AGCAAT 4 -- ut315Minor allele frequency- A:0.00MN NS EA 602
    rs1124040101,2
    		--91632239(+) CTTCAA/CCTTAA 4 -- ut312Minor allele frequency- C:0.02CSA NA 122
    rs1180338331,2
    		C,F,--91632301(+) ACCTGC/TANNNN 4 -- ut311Minor allele frequency- T:0.02NA 120
    rs795761601,2
    		--91632569(+) GTGGAG/TGCAAG 4 -- ut311Minor allele frequency- T:0.50CSA 2
    rs169226151,2
    		C,F,H,--91632857(+) AAGAGG/AGAGGC 4 -- ut31 trp321Minor allele frequency- A:0.10NA NS EA WA 2484
    rs169226181,2
    		F--91633027(+) AAAAAG/AAAATG 4 -- ut31 trp33Minor allele frequency- A:0.02NA 138
    rs169226221,2
    		C,F,H,--91633187(+) CACCAA/GACTCT 4 -- ut31 ese327Minor allele frequency- G:0.09NA MN NS EA WA 3092

    HapMap Linkage Disequilibrium report for MTMR2 (95566044 - 95658479 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MTMR2: --
    Human Gene Mutation Database (HGMD): MTMR2

    Locus Specific Mutation Databases (LSDB): MTMR2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTMR2
    DNA2.0 Custom Variant and Variant Library Synthesis for MTMR2

    Disorders / Diseases
    for MTMR2 gene

    (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
    MTMR2 for disorders           About GeneDecksing

    OMIM gene information: 603557   
    OMIM disorders: 601382  
    UniProtKB/Swiss-Prot: MTMR2_HUMAN, Q13614
  • Defects in MTMR2 are the cause of Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382]. CMT4B1 is a
    • recessive, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous
    system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and
    histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating
    CMT 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

    16 diseases for MTMR2:    About MalaCards
    charcot-marie-tooth disease type 4    charcot-marie-tooth disease    charcot-marie-tooth disease type 4b1    charcot-marie-tooth neuropathy type 4
    charcot-marie-tooth neuropathy    charcot-marie-tooth neuropathy type 4b2    tooth disease    neuropathy
    early-onset glaucoma    centronuclear myopathy    congenital hypomyelination neuropathy    hereditary neuropathies
    axonal neuropathy    glaucoma    myopathy    neuronitis

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

    7 Novoseek 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
    Charcot-Marie-Tooth Neuropathy Type 4

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

    Export disorders for MTMR2 gene to outside databases

    Publications
    for MTMR2 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 MTMR2 gene, integrated from 9 sources (see all 69):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (2002)
    10. Endosomal targeting of the phosphoinositide 3-phospha tase MTMR2 is regulated by an N-terminal phosphorylation site. (PubMed id 21372139)1, 2 Franklin N.E....Vacratsis P.O. (2011)

    External Searches for MTMR2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MTMR2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8898 HGNC: 7450 AceView: MTMR2 Ensembl:ENSG00000087053 euGenes: HUgn8898
    ECgene: MTMR2 Kegg: 8898 H-InvDB: MTMR2

    Other Databases showing MTMR2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1073

    Specialized Databases showing MTMR2 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 MTMR2 Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MTMR2

    Intellectual Property
    for MTMR2 gene

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



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