Entity Details

Primary name MTMR2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13614
EntryNameMTMR2_HUMAN
FullNameMyotubularin-related protein 2
TaxID9606
Evidenceevidence at protein level
Length643
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesMTMR2

GO terms

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GOName
GO:0002091 negative regulation of receptor internalization
GO:0004438 phosphatidylinositol-3-phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005774 vacuolar membrane
GO:0005829 cytosol
GO:0006470 protein dephosphorylation
GO:0006661 phosphatidylinositol biosynthetic process
GO:0008021 synaptic vesicle
GO:0008138 protein tyrosine/serine/threonine phosphatase activity
GO:0014069 postsynaptic density
GO:0030424 axon
GO:0030425 dendrite
GO:0031642 negative regulation of myelination
GO:0031901 early endosome membrane
GO:0032288 myelin assembly
GO:0042802 identical protein binding
GO:0043197 dendritic spine
GO:0043231 intracellular membrane-bounded organelle
GO:0045806 negative regulation of endocytosis
GO:0046855 inositol phosphate dephosphorylation
GO:0046856 phosphatidylinositol dephosphorylation
GO:0048471 perinuclear region of cytoplasm
GO:0048666 neuron development
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
GO:0060304 regulation of phosphatidylinositol dephosphorylation
GO:0070062 extracellular exosome
GO:0090394 negative regulation of excitatory postsynaptic potential
GO:0097060 synaptic membrane
GO:0097062 dendritic spine maintenance
GO:2000643 positive regulation of early endosome to late endosome transport
GO:2000645 negative regulation of receptor catabolic process

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Early endosome membrane
Endosome membrane

Domains

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DomainNameCategoryType
IPR000387 Tyrosine specific protein phosphatases domainDomainDomain
IPR003595 Protein-tyrosine phosphatase, catalyticDomainDomain
IPR004182 GRAM domainDomainDomain
IPR010569 Myotubularin-like phosphatase domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR016130 Protein-tyrosine phosphatase, active siteSiteActive site
IPR029021 Protein-tyrosine phosphatase-likeFamilyHomologous superfamily
IPR030564 Myotubularin familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
601382 OMIMCharcot-Marie-Tooth disease 4B1 (CMT4B1)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. The disease is caused by variants affecting the gene represented in this entry.