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: | BCL7B |
| Gene Name: | BCL7B |
| Protein Full Name: | B-cell CLL/lymphoma 7 protein family member B |
| Alias: | Allergen Hom s 3; B-cell CLL/lymphoma 7 protein family member B: B-cell CLL/lymphoma 7 protein family member B: B-cell CLL/lymphoma 7 protein family member B; B-cell CLL/lymphoma 7B |
| Mass (Da): | 22195 |
| Number AA: | 202 |
| UniProt ID: | Q9BQE9 |
| Locus ID: | 9275 |
| COSMIC ID: | BCL7B |
| Gene location on chromosome: | 7q11.23 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19718 |
| Percent of cancer specimens with mutations: | 0.16 |
| Normal role description: | The exact function of BCL7B is unknown. It is identified as an IgE auto-antigen in atopic dermatitis (AD) patients with severe skin manifestations. It is located in the Williams-Beuren syndrome (WBS) critical region, resulting from a hemizygous deletion of several genes on chromosome 7q11.23, possibly due to unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BCL7B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. It may play a role in lung tumour development/progression, and it is known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. |
| Commentary on involvement of protein in cancer: | The gene is under-expressed in 86% of paediatric pilocytic astocytomas (deletion at 7q11.23). |