GMNN

geminin DNA replication inhibitor

Summary

This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]

Known Variants80 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1484822616:24,777,466A/Gbenign
rs7522998196:24,777,486T/Clikely benign
rs8643094866:24,777,490A/Tstop gainedpathogenic
rs348913896:24,777,517A/Clikely benign
rs8643094886:24,777,524A/Gmissense variantpathogenic
rs7506084836:24,777,536G/Clikely benign
rs168896886:24,780,725C/Tbenign
rs19231856:24,780,892A/Cbenign
rs7639630786:24,780,901T/Guncertain significance
rs7742799826:24,780,903C/Tconflicting classifications of pathogenicity
rs3690517916:24,780,912A/Guncertain significance
rs7539087176:24,780,930C/Guncertain significance
rs23073006:24,780,944C/Abenign
rs12603048526:24,780,980A/Glikely benign
rs1924547766:24,780,987A/Clikely benign
rs22454096:24,781,025G/Abenign
rs94673116:24,781,239G/Cbenign
rs1503913766:24,781,711G/Aconflicting classifications of pathogenicity
rs23073076:24,781,719G/Cbenign
rs10532295096:24,781,733A/Guncertain significance
rs23073066:24,781,735C/Tbenign
rs12995475606:24,781,747T/Clikely benign
rs23073026:24,781,753T/Clikely benign
rs7526713626:24,781,759A/Guncertain significance
rs25324356436:24,781,761T/Glikely benign
rs25324357796:24,781,780G/Auncertain significance
rs25324358196:24,781,792A/Guncertain significance
rs7578213196:24,781,807C/Auncertain significance
rs7815169626:24,781,808T/Cuncertain significance
rs1389543556:24,781,809T/Clikely benign
rs7545891416:24,781,811G/Cuncertain significance
rs10046968536:24,781,820C/Guncertain significance
rs21135789506:24,781,822C/Auncertain significance
rs25324361256:24,781,840A/Tuncertain significance
rs5774885996:24,781,841T/Clikely benign
rs25324361396:24,781,842G/Tuncertain significance
rs2014174376:24,781,861T/Alikely benign
rs17802244576:24,781,864A/Glikely benign
rs94673166:24,784,052C/Tbenign
rs7642239406:24,784,297T/Alikely benign
rs7743469056:24,784,304T/Clikely benign
rs21135836786:24,784,316A/Guncertain significance
rs7680470636:24,784,322A/Glikely benign
rs3773733716:24,784,327C/Guncertain significance
rs25324419636:24,784,332T/Cuncertain significance
rs7580330286:24,784,356C/Tuncertain significance
rs7465315926:24,784,363A/Glikely benign
rs7572123886:24,784,366C/Tuncertain significance
rs1458226616:24,784,367G/Alikely benign
rs7697091206:24,784,370G/Alikely benign
rs2021555436:24,784,393A/Guncertain significance
rs23073056:24,784,404A/Gbenign
rs23073086:24,784,436T/Cbenign
rs25324435036:24,784,657A/Glikely benign
rs23073046:24,784,661A/Tbenign
rs15814317986:24,784,680A/Glikely benign
rs25324436086:24,784,690C/Tuncertain significance
rs21135843986:24,784,695G/Alikely benign
rs7713718856:24,784,711C/Tconflicting classifications of pathogenicity
rs2015771506:24,784,712G/Auncertain significance
rs1997106406:24,784,720A/Gconflicting classifications of pathogenicity
rs7512542246:24,784,725G/Alikely benign
rs17802990416:24,784,740A/Glikely benign
rs2010074116:24,784,777A/Gconflicting classifications of pathogenicity
rs588984206:24,784,891G/Abenign
rs109467266:24,785,039T/Cbenign
rs21457526:24,785,582G/Cbenign
rs22957356:24,785,688A/Gbenign
rs11665618566:24,785,855T/Guncertain significance
rs2012293216:24,785,863A/Guncertain significance
rs25324474116:24,785,887G/Auncertain significance
rs9915013586:24,785,889T/Auncertain significance
rs25324474246:24,785,892T/Guncertain significance
rs11968628086:24,785,921A/Guncertain significance
rs12368251756:24,785,936C/Guncertain significance
rs3735511066:24,785,976G/Alikely benign
rs23073036:24,786,005C/Tbenign
rs5580389006:24,786,019T/Cuncertain significance
rs25324480036:24,786,023T/Cuncertain significance
rs23073096:24,786,271C/Tbenign

Gene information from NCBI Gene. Variant classifications from ClinVar.