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MTMR2

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GENERAL INFORMATION

Gene name

 MTMR2

Gene description

 Myotubularin related protein 2

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to vesicles.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Vesicles (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA049831
SHOW MORE

ASSAYS
RNA expression
Human cells
Mouse cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to vesicles.

Main location

 Vesicles (supported)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA049831 HEK 293 No staining    
HPA049831 RT4 Vesicles
HPA049831 U-2 OS No staining    

MOUSE CELLS

Main location

 Not available

Mouse gene

 ENSMUSG00000031918 (version 83)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location
HPA049831 NIH 3T3 No staining

GENE INFORMATION

Gene name

 MTMR2 (HGNC Symbol)

Synonyms

 CMT4B, KIAA1073

Description

 Myotubularin related protein 2 (HGNC Symbol)

Entrez gene summary

 This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Chromosome

 11

Cytoband

 q21

Chromosome location (bp)

 95832882 - 95925315

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000087053 (version 83.38)

Entrez gene

 8898

UniProt

 Q13614 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13614

Antibodypedia

 MTMR2 antibodies

PROTEIN BROWSER
MTMR2-001
MTMR2-002
MTMR2-003
MTMR2-004
MTMR2-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MTMR2-001
ENSP00000345752
ENST00000346299
Q13614 [Direct mapping]
Myotubularin-related protein 2
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002091 [negative regulation of receptor internalization]
GO:0004438 [phosphatidylinositol-3-phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005774 [vacuolar membrane]
GO:0005829 [cytosol]
GO:0006470 [protein dephosphorylation]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0008021 [synaptic vesicle]
GO:0008138 [protein tyrosine/serine/threonine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031642 [negative regulation of myelination]
GO:0031901 [early endosome membrane]
GO:0032288 [myelin assembly]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0042803 [protein homodimerization activity]
GO:0043197 [dendritic spine]
GO:0044281 [small molecule metabolic process]
GO:0045806 [negative regulation of endocytosis]
GO:0046488 [phosphatidylinositol metabolic process]
GO:0046855 [inositol phosphate dephosphorylation]
GO:0046856 [phosphatidylinositol dephosphorylation]
GO:0048666 [neuron development]
GO:0051262 [protein tetramerization]
GO:0052629 [phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity]
GO:0052866 [phosphatidylinositol phosphate phosphatase activity]
GO:0070062 [extracellular exosome]
GO:0090394 [negative regulation of excitatory postsynaptic potential]
GO:0097060 [synaptic membrane]
GO:0097062 [dendritic spine maintenance]
GO:0097481 [neuronal postsynaptic density]
GO:2000643 [positive regulation of early endosome to late endosome transport]
GO:2000645 [negative regulation of receptor catabolic process]
Show all
 643 aa
73.4 kDa 		No 0
MTMR2-002
ENSP00000343737
ENST00000352297
Q13614 [Direct mapping]
Myotubularin-related protein 2
A0A024R3B7 [Target identity:100%; Query identity:100%]
Myotubularin related protein 2, isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002091 [negative regulation of receptor internalization]
GO:0004438 [phosphatidylinositol-3-phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006470 [protein dephosphorylation]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0008021 [synaptic vesicle]
GO:0008138 [protein tyrosine/serine/threonine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031901 [early endosome membrane]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0043197 [dendritic spine]
GO:0044281 [small molecule metabolic process]
GO:0045806 [negative regulation of endocytosis]
GO:0046856 [phosphatidylinositol dephosphorylation]
GO:0052629 [phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity]
GO:0070062 [extracellular exosome]
GO:0090394 [negative regulation of excitatory postsynaptic potential]
GO:0097060 [synaptic membrane]
GO:0097062 [dendritic spine maintenance]
GO:0097481 [neuronal postsynaptic density]
GO:2000643 [positive regulation of early endosome to late endosome transport]
GO:2000645 [negative regulation of receptor catabolic process]
Show all
 571 aa
66 kDa 		No 0
MTMR2-003
ENSP00000386882
ENST00000409459
Q13614 [Direct mapping]
Myotubularin-related protein 2
A0A024R3B7 [Target identity:100%; Query identity:100%]
Myotubularin related protein 2, isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002091 [negative regulation of receptor internalization]
GO:0004438 [phosphatidylinositol-3-phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006470 [protein dephosphorylation]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0008021 [synaptic vesicle]
GO:0008138 [protein tyrosine/serine/threonine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031901 [early endosome membrane]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0043197 [dendritic spine]
GO:0044281 [small molecule metabolic process]
GO:0045806 [negative regulation of endocytosis]
GO:0046856 [phosphatidylinositol dephosphorylation]
GO:0052629 [phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity]
GO:0070062 [extracellular exosome]
GO:0090394 [negative regulation of excitatory postsynaptic potential]
GO:0097060 [synaptic membrane]
GO:0097062 [dendritic spine maintenance]
GO:0097481 [neuronal postsynaptic density]
GO:2000643 [positive regulation of early endosome to late endosome transport]
GO:2000645 [negative regulation of receptor catabolic process]
Show all
 571 aa
66 kDa 		No 0
MTMR2-004
ENSP00000396020
ENST00000444541
C9JEX3 [Direct mapping]
Myotubularin-related protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
Show all
 557 aa
64.6 kDa 		No 0
MTMR2-201
ENSP00000376915
ENST00000393223
Q13614 [Direct mapping]
Myotubularin-related protein 2
A0A024R3B7 [Target identity:100%; Query identity:100%]
Myotubularin related protein 2, isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002091 [negative regulation of receptor internalization]
GO:0004438 [phosphatidylinositol-3-phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006470 [protein dephosphorylation]
GO:0006644 [phospholipid metabolic process]
GO:0006661 [phosphatidylinositol biosynthetic process]
GO:0008021 [synaptic vesicle]
GO:0008138 [protein tyrosine/serine/threonine phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031901 [early endosome membrane]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0043197 [dendritic spine]
GO:0044281 [small molecule metabolic process]
GO:0045806 [negative regulation of endocytosis]
GO:0046856 [phosphatidylinositol dephosphorylation]
GO:0052629 [phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity]
GO:0070062 [extracellular exosome]
GO:0090394 [negative regulation of excitatory postsynaptic potential]
GO:0097060 [synaptic membrane]
GO:0097062 [dendritic spine maintenance]
GO:0097481 [neuronal postsynaptic density]
GO:2000643 [positive regulation of early endosome to late endosome transport]
GO:2000645 [negative regulation of receptor catabolic process]
Show all
 571 aa
66 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.