CEP57

centrosomal protein 57

Summary

This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

Known Variants387 total

rsidPosition (GRCh37)AllelesClassClinVar
rs101750072011:95,523,865G/A—uncertain significance
rs87885498511:95,523,866G/A—uncertain significance
rs135178517611:95,523,870C/T—uncertain significance
rs56370857411:95,523,873C/G—uncertain significance
rs186099034311:95,523,877T/G—likely benign
rs120437038311:95,523,880C/G—likely benign
rs76224441511:95,523,882C/T—uncertain significance
rs76576766311:95,523,883T/C—likely benign
rs75101890411:95,523,885C/T—uncertain significance
rs15074930011:95,523,887G/A—conflicting classifications of pathogenicity
rs117165082111:95,523,888C/T—uncertain significance
rs75228318111:95,523,891C/T—uncertain significance
rs75585416511:95,523,893G/C—uncertain significance
rs213522011811:95,523,894G/T—uncertain significance
rs77737299511:95,523,895T/G—likely benign
rs140027986511:95,523,897C/T—uncertain significance
rs74909844111:95,523,898T/A—likely benign
rs77094991511:95,523,899C/T—uncertain significance
rs53106838911:95,523,901C/G—conflicting classifications of pathogenicity
rs249605008411:95,523,904G/A—likely benign
rs137708083911:95,523,906C/T—uncertain significance
rs134761839211:95,523,912G/A—uncertain significance
rs37420366111:95,523,923C/T—likely benign
rs127495430811:95,523,924G/C—likely benign
rs122497471011:95,528,723T/C—likely benign
rs129851034111:95,532,385T/C—likely benign
rs54071131411:95,532,386T/C—likely benign
rs78006654111:95,532,387A/C—likely benign
rs75505176611:95,532,388T/A—likely benign
rs128473646911:95,532,394A/T—likely pathogenic
rs97448102311:95,532,398C/A—uncertain significance
rs156531161911:95,532,400G/C—uncertain significance
rs78131264611:95,532,401C/T—likely benign
rs129414772211:95,532,406C/G—uncertain significance
rs249612006711:95,532,407T/A—likely benign
rs186147126411:95,532,411C/T—uncertain significance
rs186147135811:95,532,413A/G—likely benign
rs55489785911:95,532,415C/T—likely benign
rs249612020211:95,532,419G/T—uncertain significance
rs126525241411:95,532,424A/T—uncertain significance
rs77001348311:95,532,425T/C—likely benign
rs156531165611:95,532,431C/A—uncertain significance
rs126984994311:95,532,436T/G—uncertain significance
rs74969331911:95,532,438C/T—uncertain significance
rs57717314411:95,532,439G/Cmissense variantpathogenic
rs56083516211:95,532,440G/C—likely benign
rs13911074411:95,532,445C/T—conflicting classifications of pathogenicity
rs56290947711:95,532,448C/T—uncertain significance
rs76002988311:95,532,450T/C—uncertain significance
rs140070179011:95,532,461A/G—likely benign
rs99352081411:95,532,472C/T—uncertain significance
rs20008305011:95,532,473G/A—likely benign
rs213525962411:95,532,481C/T—uncertain significance
rs102808855711:95,532,482T/C—likely benign
rs213525966911:95,532,488T/G—likely benign
rs76612495511:95,532,492A/T—uncertain significance
rs95213539911:95,532,494T/C—likely benign
rs36843759711:95,532,495G/A—uncertain significance
rs78118673411:95,532,498C/A—uncertain significance
rs19036011411:95,532,500A/C—likely benign
rs54984025911:95,532,502G/A—uncertain significance
rs74951922511:95,532,504C/T—uncertain significance
rs77132361611:95,532,505G/A—uncertain significance
rs77920539211:95,532,513A/G—uncertain significance
rs186147888911:95,532,520C/G—uncertain significance
rs77271041011:95,532,524A/G—likely benign
rs213526005211:95,532,535C/T—uncertain significance
rs91365270611:95,532,541G/A—uncertain significance
rs14757341111:95,532,545C/T—uncertain significance
rs118529573211:95,532,558C/T—uncertain significance
rs76617939311:95,532,568G/A—likely benign
rs249612237911:95,532,569A/C—likely benign
rs53581911:95,541,508T/Cintron variant—
rs48847611:95,543,715C/Gintron variant—
rs125522311:95,544,391A/Gintron variant—
rs5629802111:95,545,113T/G——
rs213531794611:95,546,081G/A—likely benign
rs186213134411:95,546,098A/G—uncertain significance
rs249621974311:95,546,100A/G—uncertain significance
rs186213168911:95,546,108C/T—uncertain significance
rs186213180911:95,546,110C/T—uncertain significance
rs36827321711:95,546,119C/G—uncertain significance
rs75072831711:95,546,126A/G—uncertain significance
rs38790697711:95,546,134C/Tstop gainedpathogenic
rs122129537411:95,546,135G/A—uncertain significance
rs37253065611:95,546,137C/T—uncertain significance
rs14014903111:95,546,138G/A—uncertain significance
rs249622017611:95,546,140T/C—likely benign
rs249622022111:95,546,142G/A—likely benign
rs116473010711:95,546,149G/C—uncertain significance
rs91237472211:95,546,151G/C—uncertain significance
rs186213436811:95,546,156T/C—uncertain significance
rs249622054011:95,546,167G/A—uncertain significance
rs186213568211:95,546,185T/C—uncertain significance
rs122755421511:95,546,190A/T—uncertain significance
rs77527936011:95,546,196A/G—likely benign
rs76054128411:95,546,197A/G—uncertain significance
rs76397043311:95,546,198T/C—uncertain significance
rs11732101711:95,546,226G/C—likely benign
rs129653399111:95,546,228T/A—uncertain significance

Showing 100 of 387 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.