OPTN

optineurin

Summary

This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Known Variants385 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57058725810:13,142,081C/T—likely benign
rs88604681610:13,142,082G/T—uncertain significance
rs381465710:13,142,087T/G—benign
rs55316992310:13,142,127G/T—uncertain significance
rs7149227910:13,142,153C/T—benign
rs55249448310:13,142,192C/A—benign
rs88604681710:13,142,194G/T—uncertain significance
rs258091510:13,142,211C/G—benign
rs88604681810:13,142,216C/A—uncertain significance
rs1154814210:13,142,251A/G—benign
rs95558559010:13,142,282C/G—uncertain significance
rs145357347710:13,142,294G/A—uncertain significance
rs55691716710:13,142,315A/G—likely benign
rs14766102910:13,150,781C/T—likely benign
rs14246833610:13,150,850T/C—likely benign
rs1241580210:13,150,909T/C—benign
rs176180210:13,151,036A/G—likely benign
rs77928267610:13,151,114A/G—uncertain significance
rs94655340810:13,151,124T/A—uncertain significance
rs155476824310:13,151,129C/T—uncertain significance
rs156435476510:13,151,136C/G—uncertain significance
rs74712853710:13,151,138C/T—uncertain significance
rs183293657010:13,151,139T/G—uncertain significance
rs253903341110:13,151,160A/T—uncertain significance
rs75894250210:13,151,168C/G—uncertain significance
rs77544653710:13,151,172G/A—uncertain significance
rs20071007610:13,151,198C/G—uncertain significance
rs183293846910:13,151,199A/C—uncertain significance
rs158843332110:13,151,200C/T—likely benign
rs158843333110:13,151,215C/T—likely benign
rs77966267010:13,151,216C/T—likely benign
rs253903357010:13,151,219G/C—uncertain significance
rs119765829310:13,151,223C/T—uncertain significance
rs223496810:13,151,224G/A—benign
rs57195428510:13,151,232C/T—uncertain significance
rs36765857110:13,151,233G/A—likely benign
rs183293971710:13,151,235A/G—uncertain significance
rs1159168710:13,151,245A/G—likely benign
rs93428731410:13,151,249C/T—pathogenic
rs18773424910:13,151,269C/T—likely benign
rs2893968810:13,151,270G/Amissense variantpathogenic
rs76609119310:13,151,276C/T—uncertain significance
rs183294097110:13,151,278C/T—likely benign
rs75348006410:13,151,283T/A—uncertain significance
rs158843342210:13,151,298G/A—likely benign
rs1090630310:13,151,354G/A—benign
rs14029905110:13,151,434C/T—likely benign
rs11174027210:13,151,442A/C—likely benign
rs6039994710:13,152,117G/A—benign
rs6022124110:13,152,124C/T—benign
rs148758433110:13,152,284G/C—uncertain significance
rs158843429010:13,152,299C/T—uncertain significance
rs253903622810:13,152,301T/C—uncertain significance
rs95906957410:13,152,307G/A—uncertain significance
rs183296769510:13,152,320G/A—likely benign
rs143062175410:13,152,326G/A—likely benign
rs75752816010:13,152,333A/G—uncertain significance
rs135864128710:13,152,342C/T—pathogenic
rs145245700610:13,152,343A/G—uncertain significance
rs135989283210:13,152,348G/T—pathogenic
rs75662265110:13,152,354C/T—uncertain significance
rs253903632410:13,152,355G/A—uncertain significance
rs253903634410:13,152,361T/G—uncertain significance
rs74933316510:13,152,368G/A—likely benign
rs76049225910:13,152,370T/C—uncertain significance
rs76620027810:13,152,374G/A—likely benign
rs20204489810:13,152,382A/T—uncertain significance
rs89582424310:13,152,387A/Cmissense variantpathogenic
rs18456108710:13,152,394G/A—uncertain significance
rs1125819410:13,152,400T/Amissense variantpathogenic
rs77613803710:13,152,402G/T—uncertain significance
rs134686580510:13,152,416G/C—uncertain significance
rs76778634210:13,152,459T/C—uncertain significance
rs130838661810:13,152,465A/G—uncertain significance
rs183297119410:13,152,466G/A—uncertain significance
rs101650732610:13,152,475A/C—uncertain significance
rs11334972610:13,152,478T/C—likely pathogenic
rs75858399510:13,152,482C/G—uncertain significance
rs37426798610:13,152,487C/G—likely benign
rs56764946710:13,152,488G/A—likely benign
rs7952948410:13,152,515T/G—benign
rs7677623610:13,152,574T/C—benign
rs792185310:13,152,666G/T—benign
rs1125819610:13,154,141G/A—benign
rs88603836710:13,154,439C/G—likely benign
rs141018706710:13,154,440T/C—likely benign
rs213148875410:13,154,452G/A—likely pathogenic
rs253904140810:13,154,456C/G—uncertain significance
rs14228248010:13,154,460C/A—uncertain significance
rs36907160610:13,154,468T/C—uncertain significance
rs135743666510:13,154,472G/A—uncertain significance
rs126960435210:13,154,481G/A—uncertain significance
rs11395571810:13,154,485C/A—likely benign
rs14059994410:13,154,486G/T—pathogenic
rs37271438510:13,154,487A/C—uncertain significance
rs76436421810:13,154,490C/T—uncertain significance
rs14456141210:13,154,491G/A—likely benign
rs253904151110:13,154,495C/A—uncertain significance
rs75741188810:13,154,508A/C—uncertain significance
rs253904155210:13,154,516A/G—uncertain significance

Showing 100 of 385 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.