Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | AIFM2 |
Gene Name: | AIFM2 |
Protein Full Name: | Apoptosis-inducing factor 2 |
Alias: | Apoptosis-inducing factor homologous mitochondrion-associated inducer of death;Apoptosis-inducing factor-like mitochondrion-associated inducer of death;p53-responsive gene 3 protein |
Mass (Da): | 40527 |
Number AA: | 373 |
UniProt ID: | Q9BRQ8 |
Locus ID: | 84883 |
COSMIC ID: | AIFM2 |
Gene location on chromosome: | 10q22.1 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19625 |
Percent of cancer specimens with mutations: | 0.33 |
Normal role description: | AGAP2's function is not clear, but it is flavoprotein oxidoreductase that binds ssDNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. It is positively regulated by p53 -- shown in colon cancer cells -- and has been shown to be down-regulated in a diversity of tumors. |
Commentary on involvement of protein in cancer: | Oxidoreductase, which may play a role in mediating a p53/TP53-dependent apoptosis response. Probable oxidoreductase that acts as a caspase-independent mitochondrial effector of apoptotic cell death. Binds to DNA in a sequence-independent manner. May contribute to genotoxin-induced growth arrest. |