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    Mtmr2 myotubularin related protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 77116, updated on 5-Aug-2018

    Summary

    Official Symbol
    Mtmr2provided by MGI
    Official Full Name
    myotubularin related protein 2provided by MGI
    Primary source
    MGI:MGI:1924366
    See related
    Ensembl:ENSMUSG00000031918 Vega:OTTMUSG00000032802
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    6030445P13Rik
    Expression
    Ubiquitous expression in adrenal adult (RPKM 8.9), cerebellum adult (RPKM 7.0) and 28 other tissues See more
    Orthologs

    Genomic context

    See Mtmr2 in Genome Data Viewer
    Location:
    9; 9 A1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (13748343..13808896)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (13553625..13610925)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 82 Neighboring gene mastermind like transcriptional coactivator 2 Neighboring gene per-hexamer repeat gene 4 Neighboring gene predicted gene, 39291 Neighboring gene centrosomal protein 57 Neighboring gene family with sequence similarity 76, member B Neighboring gene peptidylprolyl isomerase B pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol phosphate phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    phosphatidylinositol-3-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    dendritic spine maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inositol phosphate dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    myelin assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    myelin assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of excitatory postsynaptic potential ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of myelination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of receptor catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
     
    neuron development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    phosphatidylinositol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of early endosome to late endosome transport ISO
    Inferred from Sequence Orthology
    more info
     
    protein tetramerization IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    regulation of phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    axon ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    dendritic spine ISO
    Inferred from Sequence Orthology
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    postsynaptic density ISO
    Inferred from Sequence Orthology
    more info
     
    synaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    vacuolar membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    myotubularin-related protein 2
    Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_076347.3
    XP_006510739.2
    XP_006510740.1
    XP_006510741.1
    XP_006510742.1
    XP_006510744.1
    XP_006510745.1
    XP_006510746.1
    XP_011240923.1
    XP_017169181.1
    XP_017169182.1

    NCBI Reference Sequences (RefSeq)

    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_023858.3NP_076347.3  myotubularin-related protein 2

      See identical proteins and their annotated locations for NP_076347.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes a protein.
      Source sequence(s)
      AK133889, AY055832, BC063050
      Consensus CDS
      CCDS22818.3
      UniProtKB/Swiss-Prot
      Q9Z2D1
      UniProtKB/TrEMBL
      Q6P572
      Related
      ENSMUSP00000034396.7, OTTMUSP00000043731, ENSMUST00000034396.13, OTTMUST00000081691
      Conserved Domains (2) summary
      pfam06602
      Location:192527
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:73187
      PH-like; Pleckstrin homology-like domain

    RNA

    1. NR_024025.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an additional internal exon, compared to variant 1. This variant is believed to be non-coding since translation from the 5'-most translation start codon, as used by variant 1, would result in nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK133889, AY055832, BC063050
      Related
      ENSMUST00000134674.7, OTTMUST00000081693

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      13748343..13808896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510677.3XP_006510740.1  myotubularin-related protein 2 isoform X2

      Conserved Domains (2) summary
      pfam06602
      Location:260595
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:141255
      PH-like; Pleckstrin homology-like domain
    2. XM_006510676.3XP_006510739.2  myotubularin-related protein 2 isoform X1

      Conserved Domains (2) summary
      pfam06602
      Location:192534
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:73187
      PH-like; Pleckstrin homology-like domain
    3. XM_011242621.2XP_011240923.1  myotubularin-related protein 2 isoform X5

      Conserved Domains (2) summary
      pfam06602
      Location:192473
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:73187
      PH-like; Pleckstrin homology-like domain
    4. XM_006510683.2XP_006510746.1  myotubularin-related protein 2 isoform X4

      See identical proteins and their annotated locations for XP_006510746.1

      UniProtKB/TrEMBL
      Q6P572
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    5. XM_006510679.1XP_006510742.1  myotubularin-related protein 2 isoform X3

      See identical proteins and their annotated locations for XP_006510742.1

      Conserved Domains (2) summary
      pfam06602
      Location:120462
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    6. XM_017313692.1XP_017169181.1  myotubularin-related protein 2 isoform X4

      UniProtKB/TrEMBL
      Q6P572
      Related
      ENSMUSP00000115906.1, OTTMUSP00000043732, ENSMUST00000155679.7, OTTMUST00000081692
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    7. XM_006510682.1XP_006510745.1  myotubularin-related protein 2 isoform X3

      See identical proteins and their annotated locations for XP_006510745.1

      Conserved Domains (2) summary
      pfam06602
      Location:120462
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    8. XM_017313693.1XP_017169182.1  myotubularin-related protein 2 isoform X4

      UniProtKB/TrEMBL
      Q6P572
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    9. XM_006510678.1XP_006510741.1  myotubularin-related protein 2 isoform X3

      See identical proteins and their annotated locations for XP_006510741.1

      Conserved Domains (2) summary
      pfam06602
      Location:120462
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    10. XM_006510681.3XP_006510744.1  myotubularin-related protein 2 isoform X3

      See identical proteins and their annotated locations for XP_006510744.1

      Conserved Domains (2) summary
      pfam06602
      Location:120462
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
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