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: | HMGA2 |
| Gene Name: | HMGA2 |
| Protein Full Name: | High mobility group protein HMGI-C |
| Alias: | High mobility group AT-hook 2 (HMGIC); High mobility group AT-hook protein 2; HMGIC |
| Mass (Da): | 11832 |
| Number AA: | 109 |
| UniProt ID: | P52926 |
| Locus ID: | 8091 |
| COSMIC ID: | HMGA2 |
| Gene location on chromosome: | 12q15 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 21032 |
| Percent of cancer specimens with mutations: | 0.07 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | t(3;12)(q27-28;q15) with LPP in lipoma; t(12;14)(q15;q23-24) with ALDH2 in uterine leiomyoma; t(9;12)(p24.1;q15) with NFIB in pleomorphic adenoma of the salivary gland |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | HMGA2 is a transcriptional regulator of CCNA2, which is involved in cell cycle regulation. It plays a role in chromosome condensation during the spermatocyte meiotic G2/M transition. It may also play a role in adipogenesis and lipoma formation. Failure to repress HMGA2 promotes anchorage-independent growth and tumorigenesis. |