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: | RUNX2 |
| Gene Name: | RUNX2 |
| Protein Full Name: | Runt-related transcription factor 2 |
| Alias: | Acute myeloid leukemia 3 protein; AML3; CBFA1; CBF-alpha 1; CCD; CCD1; Core-binding factor, alpha 1 subunit; Oncogene AML-3; OSF2; OSF-2; Osteoblast- specific transcription factor 2; PEA2-alpha A; PEBP2A; PEBP2A1; PEBP2aA1; PEBP2-alpha A; Polyomavirus enhancer-binding protein 2 alpha A subunit; SL3/AKV core-binding factor alpha A subunit; SL3-3 enhancer factor 1 alpha A subunit |
| Mass (Da): | 56648 |
| Number AA: | 521 |
| UniProt ID: | Q13950 |
| Locus ID: | 860 |
| COSMIC ID: | RUNX2 |
| Gene location on chromosome: | 6p21 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19994 |
| Percent of cancer specimens with mutations: | 0.67 |
| Found in amplified chromosomal regions in human cancers: | Osteosarcoma |
| Normal role description: | RUNX2 is a sequence-specific nuclear transcription factor which is expressed specifically in osteoblast. RUNX2 has a role in osteoblast differentiation and bone formation and remodeling. RUNX2 functions as a transcription activator and is activated by fibroblast growth factor receptor 2 signalling.RUNX2 has been implicated in the development of lymphomas, multiple myelomas, breast cancer, malignant melanoma and prostate cancer. RUNX2 was found to contribute to metastasis as well as angiogenesis in tumours. Amplificaton of the RUNX2 locus was observed in osteosarcomas. RUNX2 appears to function as an oncogene in cancer development. |