Myotubularin-related protein 2 - Mus musculus (Mouse)

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Q9Z2D1 (MTMR2_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 96. History...

Clusters with 100%, 90%, 50% identity |

Documents (2) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Myotubularin-related protein 2
EC=3.1.3.-

Gene names

Name:

Mtmr2

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	643 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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, hosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Ref.5
Enzyme regulation	interaction with SBF1 increases phosphatase activity By similarity.
Subunit structure	Homooligomer and heterooligomer. Interacts with SBF1 and SBF2 By similarity. Ref.6
Subcellular location	Cytoplasm. Early endosome membrane; Peripheral membrane protein By similarity. Note: Partly associated with membranes. Ref.6
Tissue specificity	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. Ref.5
Post-translational modification	Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures By similarity.
Sequence similarities	Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 GRAM domain. Contains 1 myotubularin phosphatase domain.
Sequence caution	The sequence AAC80002.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Cytoplasm Endosome Membrane
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	dendritic spine maintenance Inferred from electronic annotation. Source: Compara inositol phosphate dephosphorylation Inferred from direct assay PubMed 16399794. Source: MGI myelin assembly Inferred from mutant phenotype PubMed 22028665. Source: MGI negative regulation of excitatory postsynaptic membrane potential Inferred from electronic annotation. Source: Compara negative regulation of myelination Inferred from genetic interaction PubMed 22028665. Source: MGI negative regulation of receptor catabolic process Inferred from electronic annotation. Source: Compara negative regulation of receptor internalization Inferred from electronic annotation. Source: Compara neuron development Inferred from genetic interaction PubMed 22028665. Source: MGI peptidyl-tyrosine dephosphorylation Inferred from electronic annotation. Source: GOC phosphatidylinositol dephosphorylation Inferred from direct assay PubMed 16399794. Source: MGI positive regulation of early endosome to late endosome transport Inferred from electronic annotation. Source: Compara protein tetramerization Inferred from physical interaction PubMed 16399794. Source: MGI
Cellular_component	axon Inferred from electronic annotation. Source: Compara cytosol Inferred from electronic annotation. Source: Compara early endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: Compara postsynaptic density Inferred from electronic annotation. Source: Compara synaptic membrane Inferred from electronic annotation. Source: Compara synaptic vesicle Inferred from electronic annotation. Source: Compara vacuolar membrane Inferred from direct assay PubMed 16399794. Source: MGI
Molecular_function	phosphatidylinositol phosphate phosphatase activity Inferred from mutant phenotype PubMed 22028665. Source: MGI protein tyrosine phosphatase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 643

643

Myotubularin-related protein 2

PRO_0000094935

Regions

Domain

68 – 139

GRAM

Domain

205 – 580

376

Myotubularin phosphatase

Compositional bias

4 – 53

Ser-rich

Sites

Active site

417

Phosphocysteine intermediate

Amino acid modifications

Modified residue

Phosphoserine By similarity

Experimental info

Mutagenesis

103

G → E: Severely impaired interaction with membranes and strongly reduced catalytic activity. Ref.5 Ref.6

Mutagenesis

417

C → A: Loss of activity. Ref.6

Sequences

Sequence

Length

Mass (Da)

Tools

Q9Z2D1 [UniParc].

Last modified July 27, 2011. Version 3.
Checksum: FD4E43867CBB9864
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FASTA

643

73,232

        10         20         30         40         50         60 
MEKSSSCESL GAQLPAARLP SEDSLSSAST SHSENSVHTK SASAISSDSI STSADNFSPD 

        70         80         90        100        110        120 
LRVLREANKL AEMEEPALLP GENIKDMAKD VTYICPFTGA VRGTLTVTSY RLYFKSMERD 

       130        140        150        160        170        180 
PPFVLDASLG VISRVEKIGG ASSRGENSYG LETVCKDIRN LRFAHKPEGR TRRSIFENLM 

       190        200        210        220        230        240 
KYAFPVSNGL PLFAFEYKEV FPENGWKLYD PLLEYRRQGI PNESWRITKI NERYELCDTY 

       250        260        270        280        290        300 
PALLVVPANI PDEELKRVAS FRSRGRIPVL SWIHPESQAT VTRCSQPMVG VSGKRSKEDE 

       310        320        330        340        350        360 
KYLQAIMDSN AQSHKIFIFD ARPSVNAVAN KAKGGGYESE DAYQNAELVF LDIHNIHVMR 

       370        380        390        400        410        420 
ESLRKLKEIV YPTIEETHWL SNLESTHWLE HIKLILAGAL RIADKVESGK TSVVVHCSDG 

       430        440        450        460        470        480 
WDRTAQLTSL AMLMLDGYYR TIRGFEVLVE KEWLSFGHRF QLRVGHGDKN HADADRSPVF 

       490        500        510        520        530        540 
LQFIDCVWQM TRQFPTAFEF NEYFLITILD HLYSCLFGTF LCNSEQQRGK ENLPKKTVSL 

       550        560        570        580        590        600 
WSYINSQLED FTNPLYGSYS NHVLYPVASM RHLELWVGYY IRWNPRMKPQ EPIHSRYKEL 

       610        620        630        640 
LAKRAELQRK VEELQREISN RSTSSSERAS SPAQCVTPVQ TVV

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. Ponting C.P. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract] 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, 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY055832 mRNA. Translation: AAL14198.1. CT010488 Genomic DNA. Translation: CAX15666.1. CH466522 Genomic DNA. Translation: EDL24975.1. AF073880 mRNA. Translation: AAC80002.1. Different initiation.
IPI	IPI00876332.
RefSeq	NP_076347.3. NM_023858.3.
UniGene	Mm.210405.
3D structure databases
ProteinModelPortal	Q9Z2D1.
SMR	Q9Z2D1. Positions 73-585.
ModBase	Search...
PTM databases
PhosphoSite	Q9Z2D1.
Proteomic databases
PaxDb	Q9Z2D1.
PRIDE	Q9Z2D1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000034396; ENSMUSP00000034396; ENSMUSG00000031918.
GeneID	77116.
KEGG	mmu:77116.
Organism-specific databases
CTD	8898.
MGI	MGI:1924366. Mtmr2.
Phylogenomic databases
eggNOG	NOG322789.
GeneTree	ENSGT00670000097670.
HOGENOM	HOG000210598.
HOVERGEN	HBG000220.
InParanoid	Q9Z2D1.
KO	K01112.
OMA	PENGWKV.
OrthoDB	EOG4GMTWP.
Gene expression databases
ArrayExpress	Q9Z2D1.
Bgee	Q9Z2D1.
CleanEx	MM_MTMR2.
Genevestigator	Q9Z2D1.
GermOnline	ENSMUSG00000031918. Mus musculus.
Family and domain databases
Gene3D	2.30.29.30. 1 hit.
InterPro	IPR004182. GRAM. IPR010569. Myotub-related. IPR017906. Myotubularin_phosphatase_dom. IPR011993. PH_like_dom. IPR000387. Tyr/Dual-sp_Pase. IPR016130. Tyr_Pase_AS. [Graphical view]
Pfam	PF02893. GRAM. 1 hit. PF06602. Myotub-related. 1 hit. [Graphical view]
SMART	SM00568. GRAM. 1 hit. [Graphical view]
PROSITE	PS51339. PPASE_MYOTUBULARIN. 1 hit. PS00383. TYR_PHOSPHATASE_1. 1 hit. PS50056. TYR_PHOSPHATASE_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	346504.
SOURCE	Search...

Entry information

Entry name

MTMR2_MOUSE

Accession

Primary (citable) accession number: Q9Z2D1
Secondary accession number(s): B8JJF4, Q8VHA7

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	July 27, 2011
Last modified:	May 1, 2013
This is version 96 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents