Aliases for PLEKHM2 Gene
External Ids for PLEKHM2 Gene
Previous GeneCards Identifiers for PLEKHM2 Gene
This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]
GeneCards Summary for PLEKHM2 Gene
PLEKHM2 (Pleckstrin Homology And RUN Domain Containing M2) is a Protein Coding gene. Diseases associated with PLEKHM2 include Left Ventricular Noncompaction and Dilated Cardiomyopathy. Among its related pathways are Salmonella infection (KEGG). Gene Ontology (GO) annotations related to this gene include kinesin binding. An important paralog of this gene is SNX29.
UniProtKB/Swiss-Prot Summary for PLEKHM2 Gene
May play a role in the regulation of conventional kinesin activity. Required for maintenance of the Golgi apparatus organization. May play a role in membrane tubulation (PubMed:15905402). May play a role in lysosomes movement and localization at the cell periphery (PubMed:25898167).