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: | PHOX2B |
| Gene Name: | PHOX2B |
| Protein Full Name: | Paired mesoderm homeobox protein 2B |
| Alias: | Neuroblastoma Phox;PHOX2B homeodomain protein;Paired-like homeobox 2B |
| Mass (Da): | 31621 |
| Number AA: | 314 |
| UniProt ID: | Q99453 |
| Locus ID: | 8929 |
| COSMIC ID: | PHOX2B |
| Gene location on chromosome: | 4p13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20917 |
| Percent of cancer specimens with mutations: | 0.46 |
| Normal role description: | Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element. Defects in PHOX2B are the cause of susceptibility to neuroblastoma type 2 (NBLST2). |