Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q13614 (MTMR2_HUMAN)

Protein

Myotubularin-related protein 2

Gene

MTMR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.3 Publications

Catalytic activityi

1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate.2 Publications
1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.1 Publication

Activity regulationi

Interaction with SBF1 increases phosphatase activity.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei417Phosphocysteine intermediate1
Binding sitei463Substrate1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase
Biological processLipid metabolism

Enzyme and pathway databases

BRENDAi3.1.3.64 2681
3.1.3.95 2681
ReactomeiR-HSA-1483248 Synthesis of PIPs at the ER membrane
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane

Chemistry databases

SwissLipidsiSLP:000001135

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:3.1.3.642 Publications)
Gene namesi
Name:MTMR2
Synonyms:KIAA1073
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000087053.18
HGNCiHGNC:7450 MTMR2
MIMi603557 gene
neXtProtiNX_Q13614

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 4B1 (CMT4B1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
See also OMIM:601382
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047947283R → W in CMT4B1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi417C → S: Loss of activity. 2 Publications1
Mutagenesisi419D → A: No effect. 1 Publication1
Mutagenesisi422D → A: Loss of activity. 1 Publication1
Mutagenesisi607L → Y: Reduces homodimerization and interaction with SBF1. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi8898
GeneReviewsiMTMR2
MalaCardsiMTMR2
MIMi601382 phenotype
OpenTargetsiENSG00000087053
Orphaneti99955 Charcot-Marie-Tooth disease type 4B1
PharmGKBiPA31253

Polymorphism and mutation databases

BioMutaiMTMR2
DMDMi212276520

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000949341 – 643Myotubularin-related protein 2Add BLAST643

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei6PhosphoserineBy similarity1
Modified residuei9PhosphoserineBy similarity1
Modified residuei58PhosphoserineCombined sources1 Publication1

Post-translational modificationi

Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ13614
MaxQBiQ13614
PaxDbiQ13614
PeptideAtlasiQ13614
PRIDEiQ13614
ProteomicsDBi59600

PTM databases

DEPODiQ13614
iPTMnetiQ13614
PhosphoSitePlusiQ13614
SwissPalmiQ13614

Expressioni

Gene expression databases

BgeeiENSG00000087053 Expressed in 228 organ(s), highest expression level in testis
CleanExiHS_MTMR2
ExpressionAtlasiQ13614 baseline and differential
GenevisibleiQ13614 HS

Organism-specific databases

HPAiHPA049831

Interactioni

Subunit structurei

Homooligomer and heterooligomer. Interacts with SBF1 and SBF2.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NEFLP071962EBI-475631,EBI-475646

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi114415, 34 interactors
IntActiQ13614, 5 interactors
MINTiQ13614
STRINGi9606.ENSP00000345752

Structurei

Secondary structure

1643
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ13614
SMRiQ13614
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13614

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini68 – 139GRAMAdd BLAST72
Domaini205 – 580Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST376

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni330 – 333Substrate binding1 Publication4
Regioni355 – 356Substrate binding1 Publication2
Regioni417 – 423Substrate binding1 Publication7

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili593 – 6271 PublicationAdd BLAST35

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi4 – 53Ser-richAdd BLAST50

Domaini

The coiled-coil domain mediates interaction with SBF2.

Sequence similaritiesi

Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1089 Eukaryota
ENOG410XPTU LUCA
GeneTreeiENSGT00760000118832
HOGENOMiHOG000210598
HOVERGENiHBG000220
InParanoidiQ13614
KOiK18081
OMAiPENGWKV
OrthoDBiEOG091G04DS
PhylomeDBiQ13614
TreeFamiTF315197

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR004182 GRAM
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR011993 PH-like_dom_sf
IPR029021 Prot-tyrosine_phosphatase-like
IPR016130 Tyr_Pase_AS
IPR003595 Tyr_Pase_cat
IPR000387 TYR_PHOSPHATASE_dom
PANTHERiPTHR10807 PTHR10807, 1 hit
PfamiView protein in Pfam
PF02893 GRAM, 1 hit
PF06602 Myotub-related, 1 hit
SMARTiView protein in SMART
SM00568 GRAM, 1 hit
SM00404 PTPc_motif, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339 PPASE_MYOTUBULARIN, 1 hit
PS00383 TYR_PHOSPHATASE_1, 1 hit
PS50056 TYR_PHOSPHATASE_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13614-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEKSSSCESL GSQPAAARPP SVDSLSSAST SHSENSVHTK SASVVSSDSI 
        60         70         80         90        100
STSADNFSPD LRVLRESNKL AEMEEPPLLP GENIKDMAKD VTYICPFTGA 
       110        120        130        140        150
VRGTLTVTNY RLYFKSMERD PPFVLDASLG VINRVEKIGG ASSRGENSYG 
       160        170        180        190        200
LETVCKDIRN LRFAHKPEGR TRRSIFENLM KYAFPVSNNL PLFAFEYKEV 
       210        220        230        240        250
FPENGWKLYD PLLEYRRQGI PNESWRITKI NERYELCDTY PALLVVPANI 
       260        270        280        290        300
PDEELKRVAS FRSRGRIPVL SWIHPESQAT ITRCSQPMVG VSGKRSKEDE 
       310        320        330        340        350
KYLQAIMDSN AQSHKIFIFD ARPSVNAVAN KAKGGGYESE DAYQNAELVF 
       360        370        380        390        400
LDIHNIHVMR ESLRKLKEIV YPNIEETHWL 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 ENLPKRTVSL WSYINSQLED 
       560        570        580        590        600
FTNPLYGSYS NHVLYPVASM RHLELWVGYY IRWNPRMKPQ EPIHNRYKEL 
       610        620        630        640 
LAKRAELQKK VEELQREISN RSTSSSERAS SPAQCVTPVQ TVV
Length:643
Mass (Da):73,381
Last modified:November 4, 2008 - v4
Checksum:i10FD6508D0CDA719
GO
Isoform 2 (identifier: Q13614-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-72: Missing.

Note: No experimental confirmation available.
Show »
Length:571
Mass (Da):65,959
Checksum:iDBC304269CEFC843
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JEX3C9JEX3_HUMAN
Myotubularin-related protein 2
MTMR2
556Annotation score:

Sequence cautioni

The sequence BAA83025 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0472553K → T2 PublicationsCorresponds to variant dbSNP:rs3824874EnsemblClinVar.1
Natural variantiVAR_047947283R → W in CMT4B1. 1 Publication1
Natural variantiVAR_047256545N → S. Corresponds to variant dbSNP:rs558018EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0449331 – 72Missing in isoform 2. 1 PublicationAdd BLAST72

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB028996 mRNA Translation: BAA83025.2 Different initiation.
AK302940 mRNA Translation: BAG64098.1
AP000870 Genomic DNA No translation available.
AP001877 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW66971.1
BC052990 mRNA Translation: AAH52990.1
U58033 mRNA Translation: AAC79118.1
CCDSiCCDS8305.1 [Q13614-1]
CCDS8306.1 [Q13614-2]
PIRiT09497
RefSeqiNP_001230500.1, NM_001243571.1 [Q13614-2]
NP_057240.3, NM_016156.5 [Q13614-1]
NP_958435.1, NM_201278.2 [Q13614-2]
NP_958438.1, NM_201281.2 [Q13614-2]
XP_005274431.1, XM_005274374.2 [Q13614-2]
XP_005274432.1, XM_005274375.2 [Q13614-2]
XP_006718997.1, XM_006718934.2
XP_006718998.1, XM_006718935.2
XP_006718999.1, XM_006718936.3
XP_016874006.1, XM_017018517.1
XP_016874007.1, XM_017018518.1
UniGeneiHs.181326

Genome annotation databases

EnsembliENST00000346299; ENSP00000345752; ENSG00000087053 [Q13614-1]
ENST00000352297; ENSP00000343737; ENSG00000087053 [Q13614-2]
ENST00000393223; ENSP00000376915; ENSG00000087053 [Q13614-2]
ENST00000409459; ENSP00000386882; ENSG00000087053 [Q13614-2]
GeneIDi8898
KEGGihsa:8898
UCSCiuc001pft.4 human [Q13614-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB028996 mRNA Translation: BAA83025.2 Different initiation.
AK302940 mRNA Translation: BAG64098.1
AP000870 Genomic DNA No translation available.
AP001877 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW66971.1
BC052990 mRNA Translation: AAH52990.1
U58033 mRNA Translation: AAC79118.1
CCDSiCCDS8305.1 [Q13614-1]
CCDS8306.1 [Q13614-2]
PIRiT09497
RefSeqiNP_001230500.1, NM_001243571.1 [Q13614-2]
NP_057240.3, NM_016156.5 [Q13614-1]
NP_958435.1, NM_201278.2 [Q13614-2]
NP_958438.1, NM_201281.2 [Q13614-2]
XP_005274431.1, XM_005274374.2 [Q13614-2]
XP_005274432.1, XM_005274375.2 [Q13614-2]
XP_006718997.1, XM_006718934.2
XP_006718998.1, XM_006718935.2
XP_006718999.1, XM_006718936.3
XP_016874006.1, XM_017018517.1
XP_016874007.1, XM_017018518.1
UniGeneiHs.181326

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LW3X-ray2.30A1-643[»]
1M7RX-ray2.60A/B1-643[»]
1ZSQX-ray1.82A73-586[»]
1ZVRX-ray1.98A73-586[»]
5GNHX-ray2.60A/B73-643[»]
ProteinModelPortaliQ13614
SMRiQ13614
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114415, 34 interactors
IntActiQ13614, 5 interactors
MINTiQ13614
STRINGi9606.ENSP00000345752

Chemistry databases

SwissLipidsiSLP:000001135

PTM databases

DEPODiQ13614
iPTMnetiQ13614
PhosphoSitePlusiQ13614
SwissPalmiQ13614

Polymorphism and mutation databases

BioMutaiMTMR2
DMDMi212276520

Proteomic databases

EPDiQ13614
MaxQBiQ13614
PaxDbiQ13614
PeptideAtlasiQ13614
PRIDEiQ13614
ProteomicsDBi59600

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000346299; ENSP00000345752; ENSG00000087053 [Q13614-1]
ENST00000352297; ENSP00000343737; ENSG00000087053 [Q13614-2]
ENST00000393223; ENSP00000376915; ENSG00000087053 [Q13614-2]
ENST00000409459; ENSP00000386882; ENSG00000087053 [Q13614-2]
GeneIDi8898
KEGGihsa:8898
UCSCiuc001pft.4 human [Q13614-1]

Organism-specific databases

CTDi8898
DisGeNETi8898
EuPathDBiHostDB:ENSG00000087053.18
GeneCardsiMTMR2
GeneReviewsiMTMR2
HGNCiHGNC:7450 MTMR2
HPAiHPA049831
MalaCardsiMTMR2
MIMi601382 phenotype
603557 gene
neXtProtiNX_Q13614
OpenTargetsiENSG00000087053
Orphaneti99955 Charcot-Marie-Tooth disease type 4B1
PharmGKBiPA31253
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1089 Eukaryota
ENOG410XPTU LUCA
GeneTreeiENSGT00760000118832
HOGENOMiHOG000210598
HOVERGENiHBG000220
InParanoidiQ13614
KOiK18081
OMAiPENGWKV
OrthoDBiEOG091G04DS
PhylomeDBiQ13614
TreeFamiTF315197

Enzyme and pathway databases

BRENDAi3.1.3.64 2681
3.1.3.95 2681
ReactomeiR-HSA-1483248 Synthesis of PIPs at the ER membrane
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane

Miscellaneous databases

ChiTaRSiMTMR2 human
EvolutionaryTraceiQ13614
GeneWikiiMTMR2
GenomeRNAii8898
PROiPR:Q13614
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000087053 Expressed in 228 organ(s), highest expression level in testis
CleanExiHS_MTMR2
ExpressionAtlasiQ13614 baseline and differential
GenevisibleiQ13614 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR004182 GRAM
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR011993 PH-like_dom_sf
IPR029021 Prot-tyrosine_phosphatase-like
IPR016130 Tyr_Pase_AS
IPR003595 Tyr_Pase_cat
IPR000387 TYR_PHOSPHATASE_dom
PANTHERiPTHR10807 PTHR10807, 1 hit
PfamiView protein in Pfam
PF02893 GRAM, 1 hit
PF06602 Myotub-related, 1 hit
SMARTiView protein in SMART
SM00568 GRAM, 1 hit
SM00404 PTPc_motif, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339 PPASE_MYOTUBULARIN, 1 hit
PS00383 TYR_PHOSPHATASE_1, 1 hit
PS50056 TYR_PHOSPHATASE_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMTMR2_HUMAN
AccessioniPrimary (citable) accession number: Q13614
Secondary accession number(s): A6NN98, Q9UPS9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 4, 2008
Last modified: October 10, 2018
This is version 189 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again