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FLASH GENE
Symbol MTMR2 contributors: mct/pgu - updated : 20-12-2011
HGNC name myotubularin related protein 2
HGNC id 7450
Corresponding disease
CMT4B1 Charcot-Marie-Tooth disease, type 4B1
Location 11q21      Physical location : 95.566.045 - 95.657.371
Synonym symbol(s) KIAA1073, CMT4B1
EC.number 3.1.3.48
DNA
TYPE functioning gene
STRUCTURE 91.33 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC390242 11 similar to N6-DNA-methyltransferase isoform 1; N6-DNA-methyltransferase MGC5306 11q21 hypothetical protein MGC5306 PTD012 11q21 PTD012 protein CRSP6 11q14 cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa LOC387804 11 LOC387804 LOC341208 11q21 hephaestin-like PANX1 11q21 pannexin 1 LOC387805 11 similar to ARP2/3 complex 21 kDa subunit (p21-ARC) (Actin-related protein 2/3 complex subunit 3) LOC390243 11 similar to folate receptor 3 GPR83 11q21 G protein-coupled receptor 83 MRE11A 11q21 MRE11 meiotic recombination 11 homolog A (S. cerevisiae) FGIF 11q21 fetal globin-inducing factor FUT4 11q21 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) HIWI2 11q21 piwi-like 2 (Drosophila) AMOTL1 11q14.3 angiomotin like 1 LOC390244 11 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein HSPC148 11q21 hypothetical protein HSPC148 FLJ10251 LOC390245 11 similar to hypothetical protein FLJ10251 LOC120082 11q21 similar to hypothetical protein FLJ10251 SRP46 11q22 Splicing factor, arginine/serine-rich, 46kD KIAA0830 11q22 Splicing factor, arginine/serine-rich, 46kD SESN3 11q21 sestrin 3 MGC33371 11q21 hypothetical protein MGC33371 KIAA0092 11q22 hypothetical protein MGC33371 MTMR2 11q22 myotubularin related protein 2 MAML2 11q22-q23 mastermind-like 2 (Drosophila) FLJ23518 11q21 hypothetical protein FLJ23518 HSPC048 11q21 HSPC048 protein JRKL 11q21 jerky homolog-like (mouse)
RNA
TRANSCRIPTS type messenger
text variants 2 and 3 encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 4603 73.2 643 - 2003 14690594
17 - 4797 65.8 571 - 2003 14690594
16 - 4674 65.8 571 - 2003 14690594
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvesselsaorta   
Endocrineneuroendocrinepituitary  highly
Nervousbraindiencephalonhypothalamus  
 gangliasensory gangliadorsal root  
Reproductivemale systemtestis  highly
Respiratoryrespiratory tracttrachea  highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral    Homo sapiens
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
Reproductiveepithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal PH-GRAM domain that has been implicated as a PIP-binding module and is predicted to be critical for MTMR2 subcellular localization
  • ba SID (SET-interacting) domain
  • a tyrosine-protein phosphatase domain
  • and PDZ binding domain
  • HOMOLOGY
    interspecies ortholog to murine Mtmr2
    homolog to C.elegans y110a7a.5
    intraspecies homolog to myotubularin protein 2
    Homologene
    FAMILY
  • myotubulin-like family
  • myotubularin family of dual specificity protein phosphatase
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,granule
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    text
  • cytoplasmic in Schwann cells and axons from peripheral nerves and roots (in sensory and motorneurons)
  • nuclear only in Schwann cells and in motoneurons
  • localized to excitatory synapses of central neurons via direct interaction with DLG4, a postsynaptic scaffolding protein abundant at excitatory synapses
  • MTMR2 localization was predominantly cytoplasmic
  • unphosphorylated form of MTMR2 preferentially localizes to endocytic-like vesicles
  • basic FUNCTION
  • protein tyrosine phosphatase dephosphorylating PI(3.5)- P2 and PI(3)- P
  • may regulate vesicular trafficking in Schwann cells
  • MTMR2 and SBF2 play critical roles in the sorting and modulation of cellular signalling which are likely to be disturbed in CMT4B
  • its reversible phosphorylation represents a critical mechanism for regulating the subcellular localization of MTMR2
  • CELLULAR PROCESS protein, post translation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component complex MTMR2/SBF2 involved in the regulation of MTMR2 activity
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with NEFL in both Schwann cells and neurons
  • interacts with homodimeric inactive SBF2 in a tetrameric complex
  • in Schwann cells, interacts with Discs large 1 (DLG1), a scaffold involved in polarized trafficking and membrane addition, whose localization in MTMR2-null nerves is altered
  • DLG4-interacting MTMR2 contributes to the maintenance of excitatory synapses by inhibiting excessive endosome formation and destructive endosomal traffic to lysosomes
  • interacts with the catalytically inactive MTMR proteins, MTMR5 and MTMR13, and the coiled-coiled regions of the MTMR proteins are required for this interaction
  • cell & other
    REGULATION
    Other multi-level regulation of myotubularin-related protein-2 phosphatase activity by SBF2
    phosphorylation is likely to be a critical mechanism by which MTMR2 access to its lipid substrate(s) is temporally and spatially regulated, thereby contributing to the control of downstream endosome maturation event
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT4B1
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS