FBLN5

fibulin 5

Summary

The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]

Known Variants476 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605088514:92,335,793T/G—uncertain significance
rs88605088614:92,335,915C/T—uncertain significance
rs18243513014:92,335,920C/T—conflicting classifications of pathogenicity
rs1019714:92,335,921G/A—likely benign
rs7735734514:92,335,945T/A—benign
rs1780473514:92,336,054T/C—likely benign
rs88605088714:92,336,110A/G—uncertain significance
rs55319306414:92,336,142G/A—uncertain significance
rs1773170514:92,336,145G/A—likely benign
rs145150974614:92,336,149C/G—uncertain significance
rs53682730414:92,336,205G/A—uncertain significance
rs11523792514:92,336,239A/G—benign
rs7937511314:92,336,242C/T—benign
rs54835189014:92,336,447G/A—uncertain significance
rs56834872314:92,336,470C/T—uncertain significance
rs132692201514:92,336,491A/T—uncertain significance
rs133312613314:92,336,573A/G—uncertain significance
rs14529678714:92,336,574T/C—likely benign
rs140818919914:92,336,580C/G—uncertain significance
rs117269299114:92,336,581T/A—uncertain significance
rs95906673114:92,336,583C/A—likely benign
rs74995201014:92,336,584G/A—uncertain significance
rs75587540014:92,336,588C/T—uncertain significance
rs75349599014:92,336,592T/C—uncertain significance
rs99055575914:92,336,595C/T—likely benign
rs75533070214:92,336,596C/T—uncertain significance
rs37327478914:92,336,597G/A—uncertain significance
rs77262065614:92,336,602C/T—uncertain significance
rs121307902514:92,336,603G/A—uncertain significance
rs77789576614:92,336,605A/G—uncertain significance
rs145360064414:92,336,608A/T—uncertain significance
rs77118966314:92,336,610G/A—likely benign
rs188885780314:92,336,618C/T—uncertain significance
rs188885828114:92,336,629A/G—uncertain significance
rs254272946814:92,336,630T/C—uncertain significance
rs77685961214:92,336,632A/C—uncertain significance
rs75976106314:92,336,640G/A—likely benign
rs213993678214:92,336,653T/G—uncertain significance
rs139222770814:92,336,655C/T—likely benign
rs213993679414:92,336,659T/C—uncertain significance
rs140563347114:92,336,663G/C—uncertain significance
rs57077539114:92,336,664C/A—uncertain significance
rs119502568514:92,336,669T/C—uncertain significance
rs77413392114:92,336,670T/C—likely benign
rs14290755214:92,336,674C/T—conflicting classifications of pathogenicity
rs76753565714:92,336,675G/A—uncertain significance
rs128066062314:92,336,676G/C—likely benign
rs254272967814:92,336,678G/A—uncertain significance
rs254272968914:92,336,679C/A—likely benign
rs12143430314:92,336,680C/Tmissense variantpathogenic
rs123319983214:92,336,683T/C—uncertain significance
rs254272972214:92,336,684T/A—uncertain significance
rs254272973014:92,336,685G/A—likely benign
rs20129708614:92,336,686A/G—uncertain significance
rs105752289214:92,336,687T/C—conflicting classifications of pathogenicity
rs55339885514:92,336,688G/A—likely benign
rs76594946514:92,336,689G/A—uncertain significance
rs119565774814:92,336,692C/T—uncertain significance
rs126361388614:92,336,693G/A—uncertain significance
rs75354537514:92,336,703C/G—likely benign
rs14762650914:92,336,711C/T—uncertain significance
rs254272988114:92,336,714T/C—uncertain significance
rs138224262714:92,336,721G/A—likely benign
rs14866079614:92,336,724C/T—conflicting classifications of pathogenicity
rs13857738414:92,336,725G/A—uncertain significance
rs11156117314:92,336,732A/G—uncertain significance
rs77823137514:92,336,734G/A—likely benign
rs131116001814:92,336,742C/T—likely benign
rs54237294014:92,336,744G/A—likely benign
rs78117835014:92,336,746G/A—likely benign
rs55558587114:92,336,747G/T—likely benign
rs57555099414:92,336,748A/G—likely benign
rs92960814:92,336,775C/T—benign
rs92960914:92,336,989C/T—benign
rs226799014:92,339,908C/T—benign
rs243034114:92,343,764C/T—benign
rs76440093614:92,343,811C/T—likely benign
rs37203799714:92,343,813C/T—likely benign
rs78130431214:92,343,816C/T—likely benign
rs188922258914:92,343,817C/T—likely benign
rs37265098714:92,343,833G/A—uncertain significance
rs75634323614:92,343,837G/A—likely benign
rs254275150814:92,343,841A/C—uncertain significance
rs78034977614:92,343,842A/G—uncertain significance
rs8033876714:92,343,845C/Astop gainedpathogenic
rs14236685914:92,343,855A/C—uncertain significance
rs77199835314:92,343,856T/G—uncertain significance
rs37473776514:92,343,859C/T—uncertain significance
rs254275162614:92,343,864T/A—uncertain significance
rs254275169714:92,343,878T/C—uncertain significance
rs74650643214:92,343,882A/C—pathogenic
rs188922679714:92,343,886G/A—uncertain significance
rs254275179714:92,343,892G/C—uncertain significance
rs14551567814:92,343,894A/G—benign
rs75906211514:92,343,898C/T—uncertain significance
rs86430952614:92,343,899G/Amissense variantpathogenic
rs76460282714:92,343,900G/T—likely benign
rs56078069114:92,343,903C/T—likely benign
rs76252247214:92,343,904G/A—uncertain significance
rs130320779314:92,343,915T/C—likely benign

Showing 100 of 476 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.