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: | MYCN |
Gene Name: | MYCN |
Protein Full Name: | N-myc proto-oncogene protein |
Alias: | BHLHe37; MYCN; NMYC; N-myc; NMYC1; V-myc myelocytomatosis viral related oncogene, neuroblastoma derived; V-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) |
Mass (Da): | 49561 |
Number AA: | 464 |
UniProt ID: | P04198; B4DRZ1; Q53XS5 |
Locus ID: | 4613 |
COSMIC ID: | MYCN |
Gene location on chromosome: | 2p24-25 ??? |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 20650 |
Percent of cancer specimens with mutations: | 0.55 |
Commonly recorded point mutations: | P44L (12) |
Mutations observed as inherited: | NA |
Found in amplified chromosomal regions in human cancers: | Neuroblastomas (15%), lung carcinomas (30%) |
Deregulated in translocations: | NA |
Deregulated by viral insertion: | NA |
Transduced into viral genome: | NA |
Gene undergoes hypermethylation: | NA |
Normal role description: | MYCN is a transcription factor that may play a role in tissue differentiation. Amplification of N-Myc is associatd with various tumors such as neuroblastoma, retinoblastoma, small cell lung carcinoma, etc. |