myotubularin-related protein 13 (SET-binding factor 2, SBF2, CMT4B2, KIAA1766, MTMR13)

Function

• unknown
• interacts with MTMR2

Structure

• belongs to the protein-tyrosine phosphatase family* non-receptor class myotubularin subfamily
• contains 1 dDENN domain contains 1 DENN domain contains 1 GRAM domain contains 1 myotubularin-related domain contains 1 PH domain contains 1 uDENN domain
• lacks canonical protein-tyrosine phosphatase domain lacks the conserved Cys residue in position 1410 which is replaced by a Leu * probably does not have phosphatase activity

Compartment

cytoplasm, peripheral membrane

Alternative splicing

named isoforms=2

Expression

• widely expressed, including in spinal cord.

Pathology

• defects in SBF2 are the cause of Charcot-Marie-Tooth disease type 4B2

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/604563
• OMIM: https://mirror.omim.org/entry/607697
• UniProt: http://www.uniprot.org/uniprot/Q86WG5.html