MTMR2 | ENSG00000087053 | NCBI 8898

Details for: MTMR2

Gene ID: 8898

Symbol: MTMR2

Ensembl ID: ENSG00000087053

Description: myotubularin related protein 2

Associated with

Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Phospholipid metabolism
(R-HSA-1483257)
Pi metabolism
(R-HSA-1483255)
Synthesis of pips at the early endosome membrane
(R-HSA-1660516)
Synthesis of pips at the er membrane
(R-HSA-1483248)
Synthesis of pips at the late endosome membrane
(R-HSA-1660517)
Synthesis of pips at the plasma membrane
(R-HSA-1660499)
Axon
(GO:0030424)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Dendrite
(GO:0030425)
Dendritic spine
(GO:0043197)
Dendritic spine maintenance
(GO:0097062)
Early endosome membrane
(GO:0031901)
Extracellular exosome
(GO:0070062)
Identical protein binding
(GO:0042802)
Intracellular membrane-bounded organelle
(GO:0043231)
Membrane
(GO:0016020)
Myelin assembly
(GO:0032288)
Negative regulation of endocytosis
(GO:0045806)
Negative regulation of excitatory postsynaptic potential
(GO:0090394)
Negative regulation of myelination
(GO:0031642)
Negative regulation of receptor catabolic process
(GO:2000645)
Negative regulation of receptor internalization
(GO:0002091)
Neuron development
(GO:0048666)
Nucleus
(GO:0005634)
Perinuclear region of cytoplasm
(GO:0048471)
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
(GO:0052629)
Phosphatidylinositol-3-phosphate phosphatase activity
(GO:0004438)
Phosphatidylinositol biosynthetic process
(GO:0006661)
Phosphatidylinositol dephosphorylation
(GO:0046856)
Positive regulation of early endosome to late endosome transport
(GO:2000643)
Postsynaptic density
(GO:0014069)
Protein binding
(GO:0005515)
Protein dephosphorylation
(GO:0006470)
Protein tyrosine/serine/threonine phosphatase activity
(GO:0008138)
Regulation of phosphatidylinositol dephosphorylation
(GO:0060304)
Synaptic membrane
(GO:0097060)
Synaptic vesicle
(GO:0008021)
Vacuolar membrane
(GO:0005774)

Other Information

Proteins

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase

Genular Protein ID: 4025488370

Symbol: MTMR2_HUMAN

Name: Phosphatidylinositol-3,5-bisphosphate 3-phosphatase

UniProtKB Accession Codes:

Q13614 A6NN98 Q9UPS9

Database IDs:

Citations:

PubMed ID: 10470851

Title: Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10470851

DOI: 10.1093/dnares/6.3.197

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9736772

Title: Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

PubMed ID: 9736772

DOI: 10.1093/hmg/7.11.1703

PubMed ID: 8640223

Title: A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

PubMed ID: 8640223

DOI: 10.1038/ng0696-175

PubMed ID: 10802647

Title: Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

PubMed ID: 10802647

DOI: 10.1038/75542

PubMed ID: 11733541

Title: Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.

PubMed ID: 11733541

DOI: 10.1074/jbc.m111087200

PubMed ID: 12668758

Title: Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.

PubMed ID: 12668758

DOI: 10.1073/pnas.0431052100

PubMed ID: 12847286

Title: Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.

PubMed ID: 12847286

DOI: 10.1073/pnas.1033097100

PubMed ID: 15998640

Title: The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.

PubMed ID: 15998640

DOI: 10.1074/jbc.m505159200

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21372139

Title: Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.

PubMed ID: 21372139

DOI: 10.1074/jbc.m110.209122

PubMed ID: 14690594

Title: Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.

PubMed ID: 14690594

DOI: 10.1016/s1097-2765(03)00486-6

PubMed ID: 16410353

Title: Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase.

PubMed ID: 16410353

DOI: 10.1073/pnas.0510006103

PubMed ID: 12398840

Title: A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.

PubMed ID: 12398840

DOI: 10.1016/s0960-8966(02)00046-9

Sequence Information:

Length: 643
Mass: 73381
Checksum: 10FD6508D0CDA719
Sequence:

MEKSSSCESL GSQPAAARPP SVDSLSSAST SHSENSVHTK SASVVSSDSI STSADNFSPD 
LRVLRESNKL AEMEEPPLLP GENIKDMAKD VTYICPFTGA VRGTLTVTNY RLYFKSMERD 
PPFVLDASLG VINRVEKIGG ASSRGENSYG LETVCKDIRN LRFAHKPEGR TRRSIFENLM 
KYAFPVSNNL PLFAFEYKEV FPENGWKLYD PLLEYRRQGI PNESWRITKI NERYELCDTY 
PALLVVPANI PDEELKRVAS FRSRGRIPVL SWIHPESQAT ITRCSQPMVG VSGKRSKEDE 
KYLQAIMDSN AQSHKIFIFD ARPSVNAVAN KAKGGGYESE DAYQNAELVF LDIHNIHVMR 
ESLRKLKEIV YPNIEETHWL SNLESTHWLE HIKLILAGAL RIADKVESGK TSVVVHCSDG 
WDRTAQLTSL AMLMLDGYYR TIRGFEVLVE KEWLSFGHRF QLRVGHGDKN HADADRSPVF 
LQFIDCVWQM TRQFPTAFEF NEYFLITILD HLYSCLFGTF LCNSEQQRGK ENLPKRTVSL 
WSYINSQLED FTNPLYGSYS NHVLYPVASM RHLELWVGYY IRWNPRMKPQ EPIHNRYKEL 
LAKRAELQKK VEELQREISN RSTSSSERAS SPAQCVTPVQ TVV

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: MTMR2

Associated with

Other Information

Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. PubMed ID: 10470851

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Human chromosome 11 DNA sequence and analysis including novel gene identification. PubMed ID: 16554811

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. PubMed ID: 9736772

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. PubMed ID: 8640223

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. PubMed ID: 10802647

Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. PubMed ID: 11733541

Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. PubMed ID: 12668758

Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. PubMed ID: 12847286

The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. PubMed ID: 15998640

A quantitative atlas of mitotic phosphorylation. PubMed ID: 18669648

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. PubMed ID: 19690332

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. PubMed ID: 20068231

Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site. PubMed ID: 21372139

Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. PubMed ID: 14690594

Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase. PubMed ID: 16410353

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. PubMed ID: 12398840