InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTMR2

Summary

InnateDB Protein

IDBP-68606.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTMR2

Protein Name

myotubularin related protein 2

Synonyms

CMT4B; CMT4B1;

Species

Homo sapiens

Ensembl Protein

ENSP00000345752

InnateDB Gene

IDBG-68604 (MTMR2)

Protein Structure

UniProt Annotation

Function

Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. {ECO:0000269PubMed:12668758, ECO:0000269PubMed:21372139}.

Subcellular Localization

Cytoplasm. Early endosome membrane; Peripheral membrane protein. Note=Partly associated with membranes.

Disease Associations

Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382]: A 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. {ECO:0000269PubMed:10802647, ECO:0000269PubMed:12398840}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000387 Protein-tyrosine/Dual specificity phosphatase
IPR003595 Protein-tyrosine phosphatase, catalytic
IPR004182 GRAM domain
IPR010569 Myotubularin-like phosphatase domain
IPR029021 Protein-tyrosine phosphatase-like

PFAM

PF02893
PF06602

PRINTS

PIRSF

SMART

SM00404
SM00568

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q13614