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: | OTX2 |
| Gene Name: | OTX2 |
| Protein Full Name: | Homeobox protein OTX2 |
| Alias: | Orthodenticle homolog 2 |
| Mass (Da): | 31636 |
| Number AA: | 289 |
| UniProt ID: | P32243 |
| Locus ID: | 5015 |
| COSMIC ID: | OTX2 |
| Gene location on chromosome: | 14q22.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19695 |
| Percent of cancer specimens with mutations: | 0.51 |
| Found in amplified chromosomal regions in human cancers: | Pediatric medulloblastoma (16%) |
| Normal role description: | OTX2 is a site-specific nuclear localized transcription factor. OTX2 contains a homeobox domain and is thought to have a role in anterior-posterior patterning and neuronal differentiation during embryonic development. OTX2 overexpression has been observed in 74% of pediatric medulloblastomas with 21% of these cases being due to amplification of the OTX2 gene locus. OTX2 is a required factor for medulloblastoma progression and OTX2 has been found to activate transcription of the MYC oncogene. |