ANG Chromosome 14

Angiogenin
12 variants 12 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Ribonuclease A family
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000214274
Associated Conditions (3)
Amyotrophic lateral sclerosis type 9
ANG-related disorder
Amyotrophic lateral sclerosis type 10
Key Variants
All Variants (12)
RSID Category Clinical Significance Conditions
RS121909536 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 9, ANG-related disorder, Amyotrophic lateral sclerosis type 9
RS121909541 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 9, ANG-related disorder, Amyotrophic lateral sclerosis type 9
RS201068740 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 10, ANG-related disorder
RS374766597 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS763580010 Health Risk Conflicting classifications of pathogenicity
RS121909542 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909535 Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909537 Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909538 Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909539 Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909540 Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909544 Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
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