myotubularin-related protein 2 (MTMR2, KIAA1073)

Function

• phosphatase
• acts on lipids with a phosphoinositol headgroup
• has phosphatase activity towards:
  • phosphatidylinositol-3-phosphate
  • phosphatidylinositol-3,5-bisphosphate
• interaction with SBF1 increases phosphatase activity

Structure

• homooligomer & heterooligomer
• interacts with SBF1 & SBF2
• the coiled-coil domain mediates interaction with SBF2
• belongs to the protein-tyrosine phosphatase family
• non-receptor class myotubularin subfamily
• contains 1 GRAM domain
• contains 1 myotubularin phosphatase domain

Compartment

• cytoplasm, membrane
• partly associated with membranes

Pathology

• defects in MTMR2 are the cause of Charcot-Marie-Tooth disease type 4B1 (CMT4B1)

More general terms

• myotubularin family protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8898
• OMIM: https://mirror.omim.org/entry/601382
• OMIM: https://mirror.omim.org/entry/603557
• UniProt: http://www.uniprot.org/uniprot/Q13614.html