Property Summary

NCBI Gene PubMed Count 33
PubMed Score 43.19
PubTator Score 44.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
psoriasis 6685 4.51704476495803E-5
lung cancer 4473 4.96080938228813E-4
ovarian cancer 8492 7.08720129594443E-4
ependymoma 2514 0.008909221459966
Breast cancer 3099 0.0250751060157677
Disease Target Count Z-score Confidence
Centronuclear myopathy 21 5.836 2.9
Polyneuropathy 30 3.082 1.5
Disease Target Count
Charcot-Marie-Tooth disease 4B1 1

Expression

  Differential Expression (5)

Disease log2 FC p
ependymoma -1.100 0.009
psoriasis -1.700 0.000
lung cancer 2.800 0.000
Breast cancer 3.300 0.025
ovarian cancer 1.800 0.001

Synonym

Accession Q13614 A6NN98 Q9UPS9
Symbols CMT4B
CMT4B1

Gene

PANTHER Protein Class (2)

PDB

1LW3   1M7R   1ZSQ   1ZVR  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Opossum OMA Inparanoid
Platypus OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid

Gene RIF (17)

PMID Text
23781969 we identified a novel mutation in MTMR2 in a family with CMT4B1 and myelin outfoldings
23378027 these results reveal that MTMR2 compartmentalization and potential subsequent effects on endosome maturation and endosome signaling are dynamically regulated through MAPK-mediated differential phosphorylation events.
21741241 Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
21372139 MTMR2 phosphorylation is likely to be a critical mechanism by which MTMR2 access to its lipid substrate(s) is temporally and spatially regulated, thereby contributing to the control of downstream endosome maturation events.
20709679 Mutations in LITAF, RAB7, LMNA, and MTMR2 genes are rare in Chinese Charcot-Marie-Tooth disease (CMT) patients.
18774718 A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex
18429927 REVIEW : MTMR2 and homologous proteins are mutated in several neuromuscular diseases
17880751 review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies
17336078 Loss of MTMR2, by decreasing Schwann cells proliferation and survival, may impair the first stages of myelination of the peripheral nervous system
16410353 analysis of the molecular basis for this unique substrate specificity of human myotubularin-related protein-2 (MTMR2) in complex with phosphoinositides
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AA Sequence

MEKSSSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASVVSSDSISTSADNFSPDLRVLRESNKL      1 - 70
AEMEEPPLLPGENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERDPPFVLDASLGVINRVEKIGG     71 - 140
ASSRGENSYGLETVCKDIRNLRFAHKPEGRTRRSIFENLMKYAFPVSNNLPLFAFEYKEVFPENGWKLYD    141 - 210
PLLEYRRQGIPNESWRITKINERYELCDTYPALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPESQAT    211 - 280
ITRCSQPMVGVSGKRSKEDEKYLQAIMDSNAQSHKIFIFDARPSVNAVANKAKGGGYESEDAYQNAELVF    281 - 350
LDIHNIHVMRESLRKLKEIVYPNIEETHWLSNLESTHWLEHIKLILAGALRIADKVESGKTSVVVHCSDG    351 - 420
WDRTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHADADRSPVFLQFIDCVWQM    421 - 490
TRQFPTAFEFNEYFLITILDHLYSCLFGTFLCNSEQQRGKENLPKRTVSLWSYINSQLEDFTNPLYGSYS    491 - 560
NHVLYPVASMRHLELWVGYYIRWNPRMKPQEPIHNRYKELLAKRAELQKKVEELQREISNRSTSSSERAS    561 - 630
SPAQCVTPVQTVV                                                             631 - 643
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Text Mined References (38)

PMID Year Title
23781969 2013 A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.
23378027 2013 Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes.
21741241 2011 Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
21510942 2011 Receptor mediated endocytosis 8 is a novel PI(3)P binding protein regulated by myotubularin-related 2.
21372139 2011 Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.
20709679 2010 [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
20410104 2010 The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19416867 2009 The transcriptome of human CD34+ hematopoietic stem-progenitor cells.
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