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: | OTOF |
| Gene Name: | OTOF |
| Protein Full Name: | Otoferlin |
| Alias: | DFNB6; DFNB9; FER1L2; Fer-1-like protein 2; NSRD9 |
| Mass (Da): | 226753 |
| Number AA: | 1997 |
| UniProt ID: | Q9HC10 |
| Locus ID: | 9381 |
| COSMIC ID: | OTOF |
| Gene location on chromosome: | 2p23.1 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19768 |
| Percent of cancer specimens with mutations: | 2.2 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with several point mutations and 1 deletion, but no complex or insertion mutations. |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | OTOF is a calcium ion sensor involved in vesicle-plasma membrane fusion during neurotransmitter release. It interacts with SNARE proteins to trigger exocytosis, and may also play a role with the recycling of endosomes. Its role in cancer is unknown. |
| Commentary on involvement of protein in cancer: | no entry in AGO |