PLEKHM2

pleckstrin homology and RUN domain containing M2

Summary

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]

Known Variants678 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75123081:16,006,604C/Aregulatory region variant—
rs778779131:16,010,630G/A—benign
rs8684687871:16,010,893C/T—benign
rs7461227881:16,011,059G/A—likely benign
rs8668376511:16,011,061C/T—uncertain significance
rs7698453101:16,011,067A/T—uncertain significance
rs13879827171:16,011,075G/A—uncertain significance
rs16407239071:16,011,078C/G—uncertain significance
rs7800100801:16,011,083C/T—likely benign
rs13852463241:16,011,103C/T—uncertain significance
rs3707535971:16,011,104G/A—likely benign
rs5349337331:16,011,127C/T—likely benign
rs25222158201:16,011,131C/T—likely benign
rs348598421:16,042,389T/C—benign
rs9828909011:16,042,714T/C—likely benign
rs7506141111:16,042,715G/C—likely benign
rs9093730921:16,042,716T/G—likely benign
rs12872860111:16,042,717T/G—likely benign
rs10402459381:16,042,722T/C—likely benign
rs769326741:16,042,725C/T—benign
rs11613777401:16,042,746T/G—uncertain significance
rs11625902621:16,042,761T/C—likely benign
rs25223821581:16,042,764G/C—uncertain significance
rs120917501:16,042,766T/C—benign
rs7603744321:16,042,769C/G—uncertain significance
rs7705298341:16,042,772C/T—uncertain significance
rs7761840031:16,042,777C/T—uncertain significance
rs16414447231:16,042,782C/G—uncertain significance
rs2013435571:16,042,797A/C—likely benign
rs7508199021:16,042,802G/A—uncertain significance
rs7563244601:16,042,804C/T—likely benign
rs12337291941:16,042,805T/C—uncertain significance
rs21483572431:16,042,810G/A—uncertain significance
rs25223825881:16,042,813C/A—uncertain significance
rs2007668051:16,042,824C/T—benign
rs7775171951:16,042,830G/A—likely benign
rs1996660701:16,042,833G/A—likely benign
rs3762373301:16,042,836C/T—likely benign
rs7693693961:16,042,857C/G—likely benign
rs728813311:16,043,141G/A—benign
rs22801151:16,043,157G/A—benign
rs12974683391:16,043,182C/G—likely benign
rs3722540871:16,043,189C/T—likely benign
rs21483576831:16,043,210A/T—uncertain significance
rs12107980141:16,043,211C/A—uncertain significance
rs7552543851:16,043,223C/A—likely benign
rs7652994091:16,043,239G/A—uncertain significance
rs7786983131:16,043,251C/T—uncertain significance
rs14174860971:16,043,252G/A—uncertain significance
rs7662339571:16,043,258A/T—uncertain significance
rs21483577491:16,043,262C/T—likely benign
rs16414555041:16,043,274C/T—likely benign
rs8675918901:16,043,275G/A—uncertain significance
rs21483577801:16,043,282T/C—uncertain significance
rs21483577941:16,043,292G/A—likely benign
rs21483578071:16,043,302C/G—uncertain significance
rs8867575791:16,043,308C/T—uncertain significance
rs7810526301:16,043,309G/A—uncertain significance
rs7696335821:16,043,331C/T—likely benign
rs1913835131:16,044,371C/T—benign
rs3717870191:16,044,375C/T—likely benign
rs16414782561:16,044,390C/T—uncertain significance
rs10296632431:16,044,392T/A—likely benign
rs7502790861:16,044,394C/G—uncertain significance
rs168519701:16,044,401G/A—benign
rs14314316821:16,044,411C/A—uncertain significance
rs7788212681:16,044,416C/T—likely benign
rs15531599981:16,044,419G/A—likely benign
rs10154620251:16,044,426T/C—likely benign
rs25223910001:16,044,432A/T—uncertain significance
rs7768377201:16,044,443G/A—likely benign
rs21483589061:16,044,456A/G—uncertain significance
rs2011149761:16,044,467G/C—likely benign
rs13156187961:16,044,476G/C—uncertain significance
rs7631784541:16,044,482C/T—likely benign
rs7640647551:16,044,483G/A—uncertain significance
rs7517258671:16,044,494G/A—likely benign
rs7616215101:16,044,499G/A—likely benign
rs7675361491:16,044,502C/T—likely benign
rs21483589551:16,044,506C/G—likely benign
rs348226171:16,044,807C/G—benign
rs357574841:16,044,929A/G—benign
rs120916441:16,044,945G/A—benign
rs14863851941:16,045,029G/A—likely benign
rs21483595401:16,045,038C/G—uncertain significance
rs5505246611:16,045,043G/A—benign
rs16414934591:16,045,045C/T—likely benign
rs25223935821:16,045,049A/C—uncertain significance
rs5707037701:16,045,054C/T—benign
rs3731802391:16,045,055G/A—uncertain significance
rs14070621991:16,045,061C/G—uncertain significance
rs8949604521:16,045,066G/A—likely benign
rs16414944411:16,045,071T/C—uncertain significance
rs9470191971:16,045,078C/T—likely benign
rs25223937481:16,045,079T/C—likely benign
rs2018606401:16,045,087C/T—benign
rs8675829181:16,045,088G/A—uncertain significance
rs15710533741:16,045,093A/T—likely benign
rs7662622841:16,045,103C/G—uncertain significance
rs7537281581:16,045,104G/A—uncertain significance

Showing 100 of 678 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.