Gene: ANG

Alternate names for this Gene: ALS9|HEL168|RAA1|RNASE4|RNASE5

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: angiogenin

Type of Gene: protein-coding

Gene: RNASE4

Alternate names for this Gene: RAB1|RNS4

Gene Summary: The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3' side of uridine nucleotides. Alternative splicing results in four transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: ribonuclease A family member 4

Type of Gene: protein-coding

rs121909536 in ANG;RNASE4 gene and Amyotrophic Lateral Sclerosis 9 PMID 22292843 2012 SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

PMID 18087731 2008 Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.

PMID 17886298 2007 Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.

PMID 15557516 2004 A novel candidate region for ALS on chromosome 14q11.2.

PMID 25372031 2014 Computational and functional characterization of Angiogenin mutations, and correlation with amyotrophic lateral sclerosis.

PMID 17703939 2008 A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.

PMID 16501576 2006 ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

PMID 17900154 2007 Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis.

rs1888560 in ANG;RNASE4 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.