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    Mtmr2 myotubularin related protein 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 315422, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mtmr2provided by RGD
    Official Full Name
    myotubularin related protein 2provided by RGD
    Primary source
    RGD:1311865
    See related
    EnsemblRapid:ENSRNOG00000005923 AllianceGenome:RGD:1311865
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable identical protein binding activity; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; and phosphatidylinositol-3-phosphate phosphatase activity. Involved in several processes, including dendritic spine maintenance; negative regulation of excitatory postsynaptic potential; and regulation of vesicle-mediated transport. Located in several cellular components, including dendritic spine; postsynaptic density; and synaptic vesicle. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1. Orthologous to human MTMR2 (myotubularin related protein 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Muscle (RPKM 217.5), Heart (RPKM 191.3) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mtmr2 in Genome Data Viewer
    Location:
    8q12
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (18899303..18949767)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (10617993..10670724)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (12283471..12334014)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene mastermind-like transcriptional coactivator 2 Neighboring gene uncharacterized LOC134480140 Neighboring gene uncharacterized LOC120094078 Neighboring gene centrosomal protein 57 Neighboring gene family with sequence similarity 76, member B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Receptor mediated endocytosis 8 is a novel PI(3)P binding protein regulated by myotubularin-related 2. Xhabija B, et al. FEBS Lett, 2011 Jun 23. PMID 21510942
    2. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Kim SA, et al. Proc Natl Acad Sci U S A, 2003 Apr 15. PMID 12668758, Free PMC Article
    3. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Previtali SC, et al. Hum Mol Genet, 2003 Jul 15. PMID 12837694
    4. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. Vaccari I, et al. PLoS Genet, 2011 Oct. PMID 22028665, Free PMC Article
    5. The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic. Lee HW, et al. J Neurosci, 2010 Apr 21. PMID 20410104, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. suggest a model in which the localization of RME-8 to endosomal compartments is spatially mediated by PI(3)P binding and temporally regulated by MTMR2 activity
      Title: Receptor mediated endocytosis 8 is a novel PI(3)P binding protein regulated by myotubularin-related 2.
    2. MTMR2 is targeted to excitatory synapses via direct interaction with PSD-95 and is important for excitatory synapse maintenance by regulating endosomal trafficking.
      Title: The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol phosphate phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dendritic spine maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within myelin assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of myelination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of excitatory postsynaptic potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of myelination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of receptor catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within phosphatidylinositol metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of early endosome to late endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synaptic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in vacuolar membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    myotubularin-related protein 2
    NP_001101593.1
    XP_006242584.1
    XP_038937267.1
    XP_063121396.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001108123.1 → NP_001101593.1  myotubularin-related protein 2

      See identical proteins and their annotated locations for NP_001101593.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473993
      UniProtKB/TrEMBL
      A0A8I5ZQN1, A0A8I5ZTB8, A6JN73
      Conserved Domains (2) summary
      pfam06602
      Location:202 → 528
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:73 → 187
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      18899303..18949767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039081339.2 → XP_038937267.1  myotubularin-related protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZQN1, A6JN75, D3ZA31
      Conserved Domains (2) summary
      pfam06602
      Location:130 → 456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1 → 115
      PH-like; Pleckstrin homology-like domain

    2. XM_063265326.1 → XP_063121396.1  myotubularin-related protein 2 isoform X1

      UniProtKB/TrEMBL
      A6JN75, D3ZA31

    3. XM_006242522.4 → XP_006242584.1  myotubularin-related protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006242584.1

      UniProtKB/TrEMBL
      A0A8I5ZQN1, A6JN75, D3ZA31
      Related
      ENSRNOP00000008566.3, ENSRNOT00000008566.7
      Conserved Domains (2) summary
      pfam06602
      Location:130 → 456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1 → 115
      PH-like; Pleckstrin homology-like domain
    Nucleotide Protein Strain
    Heading Accession and Version

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