rs2228653

This variant is located in the ANG gene.

ClinVar annotation

Likely Benign★★★
6 submitters5 publications

Amyotrophic lateral sclerosis type 9; not provided; not specified

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Research that mentions this SNP (1)

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis
AssociationN=1,197Rubén Fernández-Santiago et al.(2009)· Journal of Neurology

A genetic association study identified two novel heterozygous missense variants in the ANG (angiogenin) gene in German ALS patients: F(-13)L and K54E. These variants were absent in 616 healthy controls and in 3,107 controls from previous studies, suggesting they are disease-specific. The study sequenced 581 German sporadic ALS cases and found a mutational frequency of 0.3% for ANG missense variants in the population.

Traits studied:Amyotrophic lateral sclerosis

About ANG

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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