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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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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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