Fields »
ABOUT
HELP
BLOG
MTMR2

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

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Distinct cytoplasmic expression in several tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA049831
SHOW MORE

PROGNOSTIC SUMMARY
Prognostic marker in liver cancer (unfavourable) and pancreatic cancer (unfavourable).
Liver cancer p<0.001
Pancreatic cancer p<0.001
Show all

RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Urothelial cancer

STAINING SUMMARY
HPA049831

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.