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: | BHLHE40 |
| Gene Name: | BHLHE40 |
| Protein Full Name: | Class E basic helix-loop-helix protein 40 |
| Alias: | BHLH2; Class B basic helix-loop-helix 2; Class B basic helix-loop-helix protein 2; DEC1; Differentially expressed in chondrocytes 1; Differentially expressed in chondrocytes protein 1; Enhancer-of-split and hairy-related 2; Enhancer-of-split and hairy-related protein 2; SHARP-2; Stimulated by retinoic acid gene 13 protein |
| Mass (Da): | 45510 |
| Number AA: | 412 |
| UniProt ID: | O14503 |
| Locus ID: | 8553 |
| COSMIC ID: | BHLHE40 |
| Gene location on chromosome: | 3p26 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19625 |
| Percent of cancer specimens with mutations: | 0.3 |
| Normal role description: | BHLHE40 is a transcription factor that regulates the cell cycle progression in chondrogenesis in response to the cAMP pathway. It is not yet associated with oncogenesis, though given its ability to regulate aspects of cell growth and differentiation including proliferation, matrix formation, maturation, hypertrophy, and calcification, it -- in a mutated form -- may serve as an oncoprotein. |
| Commentary on involvement of protein in cancer: | May function as a transcriptional factor to modulate chondrogenesis in response to the cAMP pathway. Able to homodimerize or heterodimerize with TCF3/E47. Interacts with ubiquitin-conjugating enzyme UBE2I/UBC9. |