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

    Gene ID: 77116, updated on 23-Jun-2021

    Summary

    Official Symbol
    Mtmr2provided by MGI
    Official Full Name
    myotubularin related protein 2provided by MGI
    Primary source
    MGI:MGI:1924366
    See related
    Ensembl:ENSMUSG00000031918
    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
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    Genomic context

    See Mtmr2 in Genome Data Viewer
    Location:
    9; 9 A1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (13660397..13720192)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (13747260..13808896)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (13553625..13610925)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene mastermind like transcriptional coactivator 2 Neighboring gene predicted gene, 51666 Neighboring gene VISTA enhancer mm1371 Neighboring gene predicted gene, 39291 Neighboring gene predicted gene, 53498 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 Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol phosphate phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylinositol-3-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in dendritic spine maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within inositol phosphate dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within myelin assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within myelin assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of excitatory postsynaptic potential ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of myelination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of receptor catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuron development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within phosphatidylinositol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of early endosome to late endosome transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of phosphatidylinositol dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendritic spine ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome 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
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in postsynaptic density ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in 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_001359502.1
    NP_001360802.1
    NP_001360803.1
    NP_001360804.1
    NP_001360805.1
    NP_001360806.1
    NP_001360807.1
    NP_076347.3
    XP_036011299.1
    XP_036011300.1

    NCBI Reference Sequences (RefSeq)

    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_001372573.1NP_001359502.1  myotubularin-related protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      CT010488
      Conserved Domains (2) summary
      pfam06602
      Location:120456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    2. NM_001373873.1NP_001360802.1  myotubularin-related protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      CT010488
      Conserved Domains (2) summary
      pfam06602
      Location:192494
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:73187
      PH-like; Pleckstrin homology-like domain
    3. NM_001373874.1NP_001360803.1  myotubularin-related protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      CT010488
      Conserved Domains (2) summary
      pfam06602
      Location:130463
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    4. NM_001373875.1NP_001360804.1  myotubularin-related protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      CT010488
      Related
      ENSMUSP00000115906.2, ENSMUST00000155679.8
      Conserved Domains (2) summary
      pfam06602
      Location:120456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    5. NM_001373876.1NP_001360805.1  myotubularin-related protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      CT010488
      Conserved Domains (2) summary
      pfam06602
      Location:120456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    6. NM_001373877.1NP_001360806.1  myotubularin-related protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      CT010488
      Conserved Domains (2) summary
      pfam06602
      Location:120456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    7. NM_001373878.1NP_001360807.1  myotubularin-related protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      CT010488
      Conserved Domains (2) summary
      pfam06602
      Location:120456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    8. NM_023858.4NP_076347.3  myotubularin-related protein 2 isoform 1

      See identical proteins and their annotated locations for NP_076347.3

      Status: VALIDATED

      Source sequence(s)
      CT010488
      Consensus CDS
      CCDS22818.3
      UniProtKB/Swiss-Prot
      Q9Z2D1
      UniProtKB/TrEMBL
      Q6P572
      Related
      ENSMUSP00000034396.8, ENSMUST00000034396.14
      Conserved Domains (2) summary
      pfam06602
      Location:192528
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:73187
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      13660397..13720192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036155406.1XP_036011299.1  myotubularin-related protein 2 isoform X1

      Conserved Domains (2) summary
      pfam06602
      Location:270603
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:141255
      PH-like; Pleckstrin homology-like domain
    2. XM_036155407.1XP_036011300.1  myotubularin-related protein 2 isoform X2

      Conserved Domains (2) summary
      pfam06602
      Location:130463
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain

    RNA

    1. XR_004935602.1 RNA Sequence

      Related
      ENSMUST00000134674.8
    2. XR_004935597.1 RNA Sequence

    3. XR_004935594.1 RNA Sequence

    4. XR_004935598.1 RNA Sequence

    5. XR_004935596.1 RNA Sequence

    6. XR_004935601.1 RNA Sequence

    7. XR_004935593.1 RNA Sequence

    8. XR_004935600.1 RNA Sequence

    9. XR_004935595.1 RNA Sequence

    10. XR_004935599.1 RNA Sequence

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