Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Mtmr2. (This text reflects annotations as of Tuesday, May 21, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Mtmr2
  • participates in the following biological processes:
    • dephosphorylation ^[1]
    • inositol phosphate dephosphorylation ^[1]
    • phosphatidylinositol dephosphorylation ^[1]
  • is located in the following cellular components:
    • cytoplasm ^{[1, 2]}
    • vacuolar membrane ^[1]
• Researchers have inferred, based on physical interactions, that the gene product of Mtmr2
  • participates in the following biological processes:
    • protein tetramerization ^[1]
  • performs the following molecular functions:
    • protein homodimerization activity ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Mtmr2
  • participates in the following biological processes:
    • myelin assembly ^[3]
    • phosphatidylinositol metabolic process ^[3]
  • performs the following molecular functions:
    • phosphatidylinositol phosphate phosphatase activity ^[3]
• Researchers have inferred, based on genetic interactions, that the gene product of Mtmr2
  • participates in the following biological processes:
    • myelin assembly based on interactions with Fig4, Pikfyve ^[3]
    • negative regulation of myelination based on interactions with Fig4 ^[3]
    • neuron development based on interactions with Fig4 ^[3]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Mtmr2:
  • participates in the following biological processes:
    • dendritic spine maintenance
    • negative regulation of endocytosis
    • negative regulation of excitatory postsynaptic membrane potential
    • negative regulation of receptor catabolic process
    • negative regulation of receptor internalization
    • positive regulation of early endosome to late endosome transport
  • is located in the following cellular components:
    • axon
    • cytoplasm
    • cytosol
    • dendrite
    • dendritic spine
    • nucleus
    • postsynaptic density
    • synaptic membrane
    • synaptic vesicle

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Summary text based on GO annotations supported by structural data

• Mtmr2 encodes a protein or proteins that contain the following InterPro domains: GRAM, Myotubularin phosphatase domain, Myotubularin-related, Pleckstrin homology-like domain, Protein-tyrosine phosphatase, active site, Protein-tyrosine/Dual specificity phosphatase, indicating that the gene product:
  • performs the following molecular functions:
    • phosphatase activity
    • protein tyrosine phosphatase activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Mtmr2 indicates that it:
  • performs the following molecular functions:
    • hydrolase activity
  • is located in the following cellular components:
    • endosome
    • membrane

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References

1. Berger P et al. (2006) Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet, 15:569-79. (PubMed:16399794)
2. Previtali SC et al. (2003) Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum Mol Genet, 12:1713-23. (PubMed:12837694)
3. Vaccari I et al. (2011) Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies. PLoS Genet, 7:e1002319. (PubMed:22028665)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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