TNNI2

troponin I2, fast skeletal type

Summary

This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

Known Variants89 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13842815511:1,858,632C/Tmissense variant—
rs37013016411:1,860,218C/T—uncertain significance
rs77601688811:1,860,236G/A—uncertain significance
rs18081463011:1,860,277C/T—likely benign
rs36802872011:1,860,282C/T—likely benign
rs6186713311:1,860,304A/G—benign
rs7569527211:1,860,424G/C—benign
rs18584395911:1,860,638C/T—likely benign
rs155496951311:1,860,929G/A—uncertain significance
rs11379561111:1,860,950G/A—likely benign
rs14253230411:1,860,962A/G—likely benign
rs249396027411:1,861,078G/C—uncertain significance
rs20181138611:1,861,093G/C—likely benign
rs229247611:1,861,106C/G—not provided
rs187744411:1,861,225A/C—benign
rs37715067911:1,861,650C/T—likely benign
rs20193071411:1,861,653G/A—likely benign
rs76920916611:1,861,658G/A—uncertain significance
rs18167931811:1,861,671G/C—conflicting classifications of pathogenicity
rs36919170011:1,861,691G/C—likely benign
rs37340761311:1,861,754G/A—likely benign
rs90761011:1,861,760T/C—likely benign
rs20011063311:1,861,761G/A—conflicting classifications of pathogenicity
rs37629442811:1,861,783C/T—conflicting classifications of pathogenicity
rs14386327011:1,861,802G/A—conflicting classifications of pathogenicity
rs76307504511:1,861,807G/A—uncertain significance
rs20085308311:1,861,809C/T—uncertain significance
rs37305934811:1,861,810G/A—uncertain significance
rs88604276511:1,861,811T/C—uncertain significance
rs53873349611:1,861,815G/A—uncertain significance
rs155496961611:1,861,818G/C—uncertain significance
rs77840306511:1,861,849C/T—uncertain significance
rs13982025911:1,861,850G/A—likely benign
rs77021364211:1,861,859T/C—uncertain significance
rs78036280311:1,861,860A/G—uncertain significance
rs74952379111:1,861,863C/T—uncertain significance
rs75336476311:1,861,871C/A—uncertain significance
rs39812369611:1,861,899C/T—uncertain significance
rs227144111:1,861,912A/G—benign
rs90524587711:1,862,052C/T—uncertain significance
rs173560344111:1,862,073A/C—uncertain significance
rs77790750111:1,862,078C/T—conflicting classifications of pathogenicity
rs74715388311:1,862,079G/C—uncertain significance
rs77083771511:1,862,083C/T—uncertain significance
rs76959889711:1,862,126G/A—likely benign
rs36836320811:1,862,150C/T—uncertain significance
rs20062857211:1,862,153C/T—uncertain significance
rs227144211:1,862,168C/T—benign
rs18590882411:1,862,187C/T—likely benign
rs11251711111:1,862,244G/A—benign
rs54240103111:1,862,246C/T—likely benign
rs105693167011:1,862,290T/C—likely benign
rs53123851211:1,862,296G/T—likely benign
rs213303533611:1,862,300A/G—likely pathogenic
rs77037460211:1,862,308G/A—likely benign
rs77601177111:1,862,309C/T—uncertain significance
rs249396569111:1,862,310G/A—uncertain significance
rs20113308111:1,862,317A/G—conflicting classifications of pathogenicity
rs14010774711:1,862,331G/A—uncertain significance
rs14140058711:1,862,338G/A—conflicting classifications of pathogenicity
rs75251552511:1,862,341C/T—likely benign
rs213303543711:1,862,352T/C—uncertain significance
rs13939910611:1,862,371G/A—conflicting classifications of pathogenicity
rs249396606011:1,862,405C/G—uncertain significance
rs77654069611:1,862,407G/C—likely benign
rs14765888811:1,862,422G/A—benign
rs20030013311:1,862,440G/A—benign
rs74871821011:1,862,442G/A—likely benign
rs20043800811:1,862,479G/A—likely benign
rs11751966911:1,862,665C/T—likely benign
rs184718008211:1,862,684A/G—conflicting classifications of pathogenicity
rs10489431211:1,862,698C/Tstop gainedpathogenic
rs37134105311:1,862,704G/A—uncertain significance
rs249396715011:1,862,718G/T—likely pathogenic
rs158979706311:1,862,725A/T—pathogenic
rs184718194811:1,862,728G/T—likely pathogenic
rs249396720711:1,862,735A/T—uncertain significance
rs77809939711:1,862,737T/A—uncertain significance
rs158979708311:1,862,752C/T—likely pathogenic
rs10489431111:1,862,753G/Amissense variantpathogenic
rs79704604611:1,862,757G/Tmissense variantpathogenic
rs184718305011:1,862,762T/C—uncertain significance
rs213303615211:1,862,764T/A—uncertain significance
rs37520060111:1,862,772C/T—likely benign
rs19969166911:1,862,800G/T—likely benign
rs54301233811:1,862,808C/T—uncertain significance
rs20161286611:1,862,809G/A—uncertain significance
rs11783015611:1,862,875C/T—likely benign
rs11359280511:1,863,016C/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.