Literature summary for 3.1.3.95 extracted from

Robinson, F.L.; Dixon, J.E.
The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-tooth disease (2005), J. Biol. Chem., 280, 31699-31707.

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Application

Application	Comment	Organism
medicine	loss of myotubularin-related protein MTMR13 function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in isoform MTMR2 function and subsequent alterations in 3-phosphoinositide signaling	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
cytosol	isoform MTMR2 and myotubularin-related protein MTMR13 cofractionate in both a light membrane fraction and a cytosolic fraction	Homo sapiens	5829	-
membrane	isoform MTMR2 and myotubularin-related protein MTMR13 cofractionate in both a light membrane fraction and a cytosolic fraction. MTMR13 membrane association is mediated by the segment of the protein which contains the pseudophosphatase domain	Homo sapiens	16020	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q13614	isoform MTMR2	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
HEK-293 cell	-	Homo sapiens	-

General Information

General Information	Comment	Organism
physiological function	endogenous isoform MTMR2 and myotubularin-related protein MTMR13 proteins are associated in human embryonic kidney 293 cells. MTMR2-MTMR13 association is mediated by coiled-coil sequences present in each protein. Loss of MTMR13 function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling	Homo sapiens

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Release 2023.1 (January 2023)