Version 5.4
Homo sapiens Gene: MTMR2
Summary
InnateDB Gene IDBG-68604.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTMR2
Gene Name myotubularin related protein 2
Synonyms CMT4B; CMT4B1
Species Homo sapiens
Ensembl Gene ENSG00000087053
Encoded Proteins
IDBP-68606
myotubularin related protein 2
IDBP-68608
myotubularin related protein 2
IDBP-244051
myotubularin related protein 2
IDBP-294080
myotubularin related protein 2
IDBP-382350
myotubularin related protein 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:95832882-95925315
Strand Reverse strand
Band q21
Transcripts
ENST00000346299 ENSP00000345752
ENST00000352297 ENSP00000343737
ENST00000393223 ENSP00000376915
ENST00000409459 ENSP00000386882
ENST00000444541 ENSP00000396020
ENST00000484818
ENST00000495134
ENST00000485740
ENST00000472423
ENST00000497683
ENST00000470293
ENST00000481642
ENST00000470011
ENST00000469574
ENST00000485988
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 16 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0008138 protein tyrosine/serine/threonine phosphatase activity
GO:0016791 phosphatase activity
GO:0042803 protein homodimerization activity
GO:0052866 phosphatidylinositol phosphate phosphatase activity
Biological Process
GO:0002091 negative regulation of receptor internalization
GO:0006470 protein dephosphorylation
GO:0006644 phospholipid metabolic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0008219 cell death
GO:0016311 dephosphorylation
GO:0031642 negative regulation of myelination
GO:0032288 myelin assembly
GO:0035335 peptidyl-tyrosine dephosphorylation
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:0090394 negative regulation of excitatory postsynaptic membrane potential
GO:0097062 dendritic spine maintenance
GO:2000643 positive regulation of early endosome to late endosome transport
GO:2000645 negative regulation of receptor catabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005774 vacuolar membrane
GO:0005829 cytosol
GO:0008021 synaptic vesicle
GO:0030424 axon
GO:0030425 dendrite
GO:0031901 early endosome membrane
GO:0043197 dendritic spine
GO:0097060 synaptic membrane
GO:0097481 neuronal postsynaptic density
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031918
View Gene Order
ENSBTAG00000016557
Not yet available
Pathways
NETPATH
REACTOME
REACT_120756
Synthesis of PIPs at the early endosome membrane pathway
REACT_120918
Synthesis of PIPs at the late endosome membrane pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_121175
PI Metabolism pathway
REACT_120870
Phospholipid metabolism pathway
REACT_111217
Metabolism pathway
KEGG
INOH
INOH website
Nicotinate Nicotinamide metabolism pathway
PID NCI
Cross-References
SwissProt Q13614
TrEMBL A0A024R3B7 C9JEX3
UniProt Splice Variant
Entrez Gene 8898
UniGene Hs.601073 Hs.735379
RefSeq NM_201278 NM_201281 NM_001243571 NM_016156 XM_005274374 XM_005274375 XM_006718933 XM_006718935 XM_006718936
HUGO HGNC:7450
OMIM 603557
CCDS CCDS8306 CCDS8305
HPRD 04650
IMGT
EMBL AB028996 AK302940 AP000870 AP001877 BC052990 CH471065 U58033
GenPept AAC79118 AAH52990 BAA83025 BAG64098 EAW66971 EAW66973 EAW66974
RNA Seq Atlas 8898

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca