ANG

angiogenin

Summary

The protein encoded by this gene is a member of the RNase A superfamily though it has relatively weak ribonucleolytic activity. This protein is a potent mediator of new blood vessel formation and thus, in addition to the name RNase5, is commonly called angiogenin. This protein induces angiogenesis after binding to actin on the surface of endothelial cells. This protein also accumulates at the nucleolus where it stimulates ribosomal transcription. Under stress conditions this protein translocates to the cytosol where it hydrolyzes cellular tRNAs and influences protein synthesis. A signal peptide is cleaved from the precursor protein to produce a mature protein which contains a nuclear localization signal, a cell binding motif, and a catalytic domain. This protein has been shown to be both neurotrophic and neuroprotective and the mature protein has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Due to its effect on rRNA production and angiogenesis this gene plays important roles in cell growth and tumor progression. Mutations in this gene are associated with progression of amyotrophic lateral sclerosis (ALS). This gene and the neighboring RNase4 gene share promoters and 5' exons though each gene then splices to a distinct 3' exon containing the complete coding region of each gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2020]

Known Variants88 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1751613314:21,152,167G/Cregulatory region variant—
rs88605039414:21,152,342C/A—uncertain significance
rs11746636814:21,152,357G/C—benign
rs188631308814:21,152,394G/A—uncertain significance
rs11778761014:21,152,402T/C—benign
rs11705304814:21,152,406T/C—benign
rs88605039514:21,152,412G/A—uncertain significance
rs14914743014:21,152,513C/T—benign
rs4559163514:21,152,535G/T—benign
rs11395090214:21,152,553C/G—benign
rs88605039614:21,152,555C/T—uncertain significance
rs2858950114:21,152,604C/A—benign
rs4552573114:21,152,699A/C—benign
rs37433272114:21,152,768A/G—uncertain significance
rs88605039714:21,152,821G/C—uncertain significance
rs11797832914:21,152,895T/C—benign
rs18496342814:21,152,928A/C—likely benign
rs1185104414:21,154,495G/A——
rs53190691814:21,158,267G/A——
rs1243390514:21,158,303G/A——
rs53955199814:21,158,340G/A——
rs1711469914:21,158,910G/Tdownstream gene variant—
rs18429707314:21,159,064G/Tregulatory region variant—
rs498232714:21,161,381A/G—benign
rs7479237114:21,161,385G/T—benign
rs11736293014:21,161,484G/C—benign
rs11559891814:21,161,630G/A—likely benign
rs37366946514:21,161,702G/A—uncertain significance
rs20106874014:21,161,726G/A—conflicting classifications of pathogenicity
rs75661576614:21,161,759C/T—likely benign
rs20024090114:21,161,761T/C—uncertain significance
rs76834206714:21,161,776T/A—uncertain significance
rs14967265714:21,161,784C/T—uncertain significance
rs77323799114:21,161,785C/T—uncertain significance
rs188693044914:21,161,808A/G—uncertain significance
rs117313355814:21,161,819C/A—uncertain significance
rs56313905714:21,161,822C/T—likely benign
rs77668794214:21,161,828C/G—likely benign
rs12190953514:21,161,830A/Tmissense variantpathogenic
rs75613728914:21,161,833A/G—uncertain significance
rs250215125614:21,161,834C/T—likely benign
rs159421010614:21,161,836A/G—uncertain significance
rs12190953714:21,161,844A/Gmissense variantpathogenic
rs12190953614:21,161,845A/Tmissense variantpathogenic
rs54233928614:21,161,852G/C—uncertain significance
rs14770171314:21,161,855C/T—likely benign
rs74618703914:21,161,856C/T—uncertain significance
rs118715891314:21,161,864C/T—likely benign
rs12190954214:21,161,878G/Amissense variantpathogenic
rs12190953814:21,161,887G/Amissense variantpathogenic
rs77084086914:21,161,893G/C—uncertain significance
rs250215182914:21,161,897C/T—likely benign
rs12190953914:21,161,912C/Gmissense variantpathogenic
rs12190954014:21,161,914A/Tmissense variantpathogenic
rs250215198914:21,161,916G/A—uncertain significance
rs188694557314:21,161,922A/G—uncertain significance
rs250215207114:21,161,923A/G—uncertain significance
rs12190954114:21,161,931A/Gmissense variantpathogenic
rs250215213514:21,161,934C/A—uncertain significance
rs76422489814:21,161,946C/G—likely benign
rs14648583414:21,161,947G/A—uncertain significance
rs14105523514:21,161,955A/G—uncertain significance
rs1756014:21,161,973A/G—benign
rs156660255314:21,161,976A/C—uncertain significance
rs1170114:21,162,053T/Gsynonymous variantlikely benign
rs76424339914:21,162,056C/T—likely benign
rs76191353714:21,162,068A/C—likely benign
rs14139885714:21,162,079G/T—uncertain significance
rs124853181314:21,162,082C/A—uncertain significance
rs222865314:21,162,086A/T—likely benign
rs37476659714:21,162,088C/T—conflicting classifications of pathogenicity
rs53531176214:21,162,091G/A—uncertain significance
rs37332441614:21,162,093T/A—uncertain significance
rs125593460714:21,162,097G/A—uncertain significance
rs55351371014:21,162,102G/A—uncertain significance
rs250215391014:21,162,116T/C—likely benign
rs76889958214:21,162,129C/T—uncertain significance
rs12190954314:21,162,130C/Tmissense variantpathogenic
rs12190954414:21,162,132G/Amissense variantpathogenic
rs156660281414:21,162,136A/C—uncertain significance
rs76996007914:21,162,141G/A—uncertain significance
rs56544473114:21,162,156C/T—uncertain significance
rs76358001014:21,162,157G/A—conflicting classifications of pathogenicity
rs53909857714:21,162,159C/T—uncertain significance
rs75992884814:21,162,164G/A—likely benign
rs77854306814:21,162,177C/T—likely benign
rs55000717014:21,162,248A/C—uncertain significance
rs54245846014:21,162,306A/G—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.