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Q9Z2D1

- MTMR2_MOUSE

UniProt

Q9Z2D1 - MTMR2_MOUSE

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Protein

Myotubularin-related protein 2

Gene

Mtmr2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate.1 Publication

Catalytic activityi

1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate.1 Publication
1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.1 Publication

Enzyme regulationi

Interaction with SBF1 increases phosphatase activity.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei417 – 4171Phosphocysteine intermediate
Binding sitei463 – 4631SubstrateBy similarity

GO - Molecular functioni

  1. phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Source: UniProtKB
  2. phosphatidylinositol-3-phosphatase activity Source: UniProtKB
  3. phosphatidylinositol phosphate phosphatase activity Source: MGI
  4. protein homodimerization activity Source: MGI
  5. protein tyrosine phosphatase activity Source: InterPro

GO - Biological processi

  1. dendritic spine maintenance Source: Ensembl
  2. dephosphorylation Source: MGI
  3. inositol phosphate dephosphorylation Source: MGI
  4. myelin assembly Source: MGI
  5. negative regulation of excitatory postsynaptic membrane potential Source: Ensembl
  6. negative regulation of myelination Source: MGI
  7. negative regulation of receptor catabolic process Source: Ensembl
  8. negative regulation of receptor internalization Source: Ensembl
  9. neuron development Source: MGI
  10. phosphatidylinositol dephosphorylation Source: MGI
  11. phosphatidylinositol metabolic process Source: MGI
  12. positive regulation of early endosome to late endosome transport Source: Ensembl
  13. protein tetramerization Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid metabolism

Enzyme and pathway databases

ReactomeiREACT_198972. Synthesis of PIPs at the late endosome membrane.
REACT_198975. Synthesis of PIPs at the early endosome membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 2
Alternative name(s):
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase (EC:3.1.3.951 Publication)
Phosphatidylinositol-3-phosphate phosphatase (EC:3.1.3.641 Publication)
Gene namesi
Name:Mtmr2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 9

Organism-specific databases

MGIiMGI:1924366. Mtmr2.

Subcellular locationi

Cytoplasm 1 Publication. Early endosome membrane By similarity; Peripheral membrane protein By similarity
Note: Partly associated with membranes.By similarity

GO - Cellular componenti

  1. axon Source: Ensembl
  2. cytoplasm Source: MGI
  3. cytosol Source: UniProtKB
  4. dendritic spine Source: Ensembl
  5. endosome Source: UniProtKB-KW
  6. neuronal postsynaptic density Source: Ensembl
  7. nucleus Source: Ensembl
  8. synaptic membrane Source: Ensembl
  9. synaptic vesicle Source: Ensembl
  10. vacuolar membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi103 – 1031G → E: Severely impaired interaction with membranes and strongly reduced catalytic activity. 2 Publications
Mutagenesisi417 – 4171C → A: Loss of activity. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 643643Myotubularin-related protein 2PRO_0000094935Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei6 – 61Phosphoserine1 Publication
Modified residuei58 – 581PhosphoserineBy similarity

Post-translational modificationi

Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9Z2D1.
PaxDbiQ9Z2D1.
PRIDEiQ9Z2D1.

PTM databases

PhosphoSiteiQ9Z2D1.

Expressioni

Tissue specificityi

Detected in fetal forebrain, dorsal root ganglia, trigeminal ganglia, kidney, adrenal gland and lung. Detected in adult dorsal root ganglia, neurons of the central nervous system, motor neurons, cell soma and neurites of sensory neurons, olfactory bulb, cerebellum and hippocampus.1 Publication

Gene expression databases

BgeeiQ9Z2D1.
CleanExiMM_MTMR2.
ExpressionAtlasiQ9Z2D1. baseline and differential.
GenevestigatoriQ9Z2D1.

Interactioni

Subunit structurei

Homooligomer and heterooligomer. Interacts with SBF1 and SBF2 (By similarity).By similarity

Protein-protein interaction databases

BioGridi218525. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9Z2D1.
SMRiQ9Z2D1. Positions 73-585.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini68 – 13972GRAMAdd
BLAST
Domaini205 – 580376Myotubularin phosphatasePROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni330 – 3334Substrate bindingBy similarity
Regioni355 – 3562Substrate bindingBy similarity
Regioni417 – 4237Substrate bindingBy similarity

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili593 – 62735By similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi4 – 5350Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 GRAM domain.Curated
Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG322789.
GeneTreeiENSGT00760000118832.
HOGENOMiHOG000210598.
HOVERGENiHBG000220.
InParanoidiQ9Z2D1.
KOiK18081.
OMAiPENGWKV.
OrthoDBiEOG7XDBF9.
TreeFamiTF315197.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR004182. GRAM.
IPR010569. Myotubularin-like_Pase_dom.
IPR011993. PH_like_dom.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR000387. Tyr/Dual-sp_Pase.
IPR016130. Tyr_Pase_AS.
[Graphical view]
PfamiPF02893. GRAM. 1 hit.
PF06602. Myotub-related. 1 hit.
[Graphical view]
SMARTiSM00568. GRAM. 1 hit.
[Graphical view]
SUPFAMiSSF52799. SSF52799. 1 hit.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
PS50056. TYR_PHOSPHATASE_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Z2D1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEKSSSCESL GAQLPAARLP SEDSLSSAST SHSENSVHTK SASAISSDSI
60 70 80 90 100
STSADNFSPD LRVLREANKL AEMEEPALLP GENIKDMAKD VTYICPFTGA
110 120 130 140 150
VRGTLTVTSY RLYFKSMERD PPFVLDASLG VISRVEKIGG ASSRGENSYG
160 170 180 190 200
LETVCKDIRN LRFAHKPEGR TRRSIFENLM KYAFPVSNGL PLFAFEYKEV
210 220 230 240 250
FPENGWKLYD PLLEYRRQGI PNESWRITKI NERYELCDTY PALLVVPANI
260 270 280 290 300
PDEELKRVAS FRSRGRIPVL SWIHPESQAT VTRCSQPMVG VSGKRSKEDE
310 320 330 340 350
KYLQAIMDSN AQSHKIFIFD ARPSVNAVAN KAKGGGYESE DAYQNAELVF
360 370 380 390 400
LDIHNIHVMR ESLRKLKEIV YPTIEETHWL SNLESTHWLE HIKLILAGAL
410 420 430 440 450
RIADKVESGK TSVVVHCSDG WDRTAQLTSL AMLMLDGYYR TIRGFEVLVE
460 470 480 490 500
KEWLSFGHRF QLRVGHGDKN HADADRSPVF LQFIDCVWQM TRQFPTAFEF
510 520 530 540 550
NEYFLITILD HLYSCLFGTF LCNSEQQRGK ENLPKKTVSL WSYINSQLED
560 570 580 590 600
FTNPLYGSYS NHVLYPVASM RHLELWVGYY IRWNPRMKPQ EPIHSRYKEL
610 620 630 640
LAKRAELQRK VEELQREISN RSTSSSERAS SPAQCVTPVQ TVV
Length:643
Mass (Da):73,232
Last modified:July 27, 2011 - v3
Checksum:iFD4E43867CBB9864
GO

Sequence cautioni

The sequence AAC80002.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY055832 mRNA. Translation: AAL14198.1.
CT010488 Genomic DNA. Translation: CAX15666.1.
CH466522 Genomic DNA. Translation: EDL24975.1.
AF073880 mRNA. Translation: AAC80002.1. Different initiation.
CCDSiCCDS22818.3.
RefSeqiNP_076347.3. NM_023858.3.
UniGeneiMm.210405.

Genome annotation databases

EnsembliENSMUST00000034396; ENSMUSP00000034396; ENSMUSG00000031918.
GeneIDi77116.
KEGGimmu:77116.
UCSCiuc009odz.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY055832 mRNA. Translation: AAL14198.1 .
CT010488 Genomic DNA. Translation: CAX15666.1 .
CH466522 Genomic DNA. Translation: EDL24975.1 .
AF073880 mRNA. Translation: AAC80002.1 . Different initiation.
CCDSi CCDS22818.3.
RefSeqi NP_076347.3. NM_023858.3.
UniGenei Mm.210405.

3D structure databases

ProteinModelPortali Q9Z2D1.
SMRi Q9Z2D1. Positions 73-585.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 218525. 1 interaction.

PTM databases

PhosphoSitei Q9Z2D1.

Proteomic databases

MaxQBi Q9Z2D1.
PaxDbi Q9Z2D1.
PRIDEi Q9Z2D1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000034396 ; ENSMUSP00000034396 ; ENSMUSG00000031918 .
GeneIDi 77116.
KEGGi mmu:77116.
UCSCi uc009odz.2. mouse.

Organism-specific databases

CTDi 8898.
MGIi MGI:1924366. Mtmr2.

Phylogenomic databases

eggNOGi NOG322789.
GeneTreei ENSGT00760000118832.
HOGENOMi HOG000210598.
HOVERGENi HBG000220.
InParanoidi Q9Z2D1.
KOi K18081.
OMAi PENGWKV.
OrthoDBi EOG7XDBF9.
TreeFami TF315197.

Enzyme and pathway databases

Reactomei REACT_198972. Synthesis of PIPs at the late endosome membrane.
REACT_198975. Synthesis of PIPs at the early endosome membrane.

Miscellaneous databases

NextBioi 346504.
PROi Q9Z2D1.
SOURCEi Search...

Gene expression databases

Bgeei Q9Z2D1.
CleanExi MM_MTMR2.
ExpressionAtlasi Q9Z2D1. baseline and differential.
Genevestigatori Q9Z2D1.

Family and domain databases

Gene3Di 2.30.29.30. 1 hit.
InterProi IPR004182. GRAM.
IPR010569. Myotubularin-like_Pase_dom.
IPR011993. PH_like_dom.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR000387. Tyr/Dual-sp_Pase.
IPR016130. Tyr_Pase_AS.
[Graphical view ]
Pfami PF02893. GRAM. 1 hit.
PF06602. Myotub-related. 1 hit.
[Graphical view ]
SMARTi SM00568. GRAM. 1 hit.
[Graphical view ]
SUPFAMi SSF52799. SSF52799. 1 hit.
PROSITEi PS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
PS50056. TYR_PHOSPHATASE_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization and expression analysis of Mtmr2, mouse homolog of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B."
    Bolino A., Marigo V., Loader J., Romio L., Leoni A., Di Duca M., Cinti R., Feltri M.L., Wrabetz L., Ravazzolo R., Monaco A.P.
    Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  3. Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
    Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human."
    Laporte J., Blondeau F., Buj-Bello A., Tentler D., Kretz C., Dahl N., Mandel J.-L.
    Hum. Mol. Genet. 7:1703-1712(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-225.
  5. "Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1."
    Berger P., Bonneick S., Willi S., Wymann M., Suter U.
    Hum. Mol. Genet. 11:1569-1579(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF GLY-103, TISSUE SPECIFICITY.
  6. "Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module."
    Berger P., Schaffitzel C., Berger I., Ban N., Suter U.
    Proc. Natl. Acad. Sci. U.S.A. 100:12177-12182(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-103 AND CYS-417, SUBUNIT.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-6, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiMTMR2_MOUSE
AccessioniPrimary (citable) accession number: Q9Z2D1
Secondary accession number(s): B8JJF4, Q8VHA7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 27, 2011
Last modified: October 29, 2014
This is version 111 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3