BCL7B (B-cell CLL/lymphoma 7B)
2008-12-01 Nicola Potter AffiliationDepartment of Molecular Neuroscience, Institute of Neurology, University College London, National Hospital for Neurology, Neurosurgery, London, WC1N 3BG, UK
DNA/RNA
Note
Members of the BCL7 family have significant sequence similarity at their N-terminus.
Description
The gene spans 21.339kb and includes 6 exons.
Transcription
The mRNA transcript is 1690bp in length.
Proteins
Description
The protein product of this gene is 202aa and alternative splicing generates 3 isoforms.
Expression
Little is known about the expression pattern of this gene in human tissues. However, serial analysis of gene expression (SAGE) data suggests that gene transcripts are present at low levels in the brain and a variety of breast cells. Data is not available for other tissues. BCL7B has also been shown to be under-expressed in paediatric pilocytic astocytomas, suggesting that this gene may play a role in tumour development.
Function
Unknown
Homology
BCL7B shares 90% sequence homology in the amino-terminal 51 amino acids with human BCL7A from the same gene family.
Implicated in
Entity name
Paediatric pilocytic astrocytoma
Disease
The loss of BCL7B expression in paediatric pilocytic astrocytoma correlated with a small region of deletion at 7q11.23 in 86% of tumours investigated. The role of this gene in tumour development is still to be determined.
Entity name
Note
The BCL7A protein is encoded by a gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line.
Entity name
Williams Syndrome
Disease
BCL7B is located in a chromosomal region commonly deleted in Williams syndrome. The role of BCL7B loss in this syndrome is yet to be established. Furthermore, in rare cases, malignancies have presented in patients with Williams syndrome including non-Hodgkin lymphoma in a 29-year-old woman and a 8 year old boy and an astrocytoma in a 5-year-old child.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15381380 | 2004 | Non-Hodgkin lymphoma in a child with Williams syndrome. | Amenta S et al |
| 8129194 | 1994 | Occurrence of non-Hodgkin's lymphoma in Williams syndrome--case report. | Felice PV et al |
| 9931421 | 1998 | The BCL7 gene family: deletion of BCL7B in Williams syndrome. | Jadayel DM et al |
| 9860302 | 1998 | Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. | Meng X et al |
| 18670637 | 2008 | Genomic deletions correlate with underexpression of novel candidate genes at six loci in pediatric pilocytic astrocytoma. | Potter N et al |
| 3843262 | 1985 | Occurrence of an astrocytoma in a patient with Williams syndrome. | Semmekrot BA et al |
Other Information
Locus ID:
NCBI: 9275
MIM: 605846
HGNC: 1005
Ensembl: ENSG00000106635
Variants:
dbSNP: 9275
ClinVar: 9275
TCGA: ENSG00000106635
COSMIC: BCL7B
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31166991 | 2019 | Overexpression of PODXL/ITGB1 and BCL7B/ITGB1 accurately predicts unfavorable prognosis compared to the TNM staging system in postoperative pancreatic cancer patients. | 12 |
| 31166991 | 2019 | Overexpression of PODXL/ITGB1 and BCL7B/ITGB1 accurately predicts unfavorable prognosis compared to the TNM staging system in postoperative pancreatic cancer patients. | 12 |
| 27771473 | 2016 | Williams syndrome and mature B-Leukemia: A random association? | 6 |
| 27771473 | 2016 | Williams syndrome and mature B-Leukemia: A random association? | 6 |
| 25569233 | 2015 | The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway. | 23 |
| 25569233 | 2015 | The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway. | 23 |
| 23018576 | 2013 | Williams-Beuren Syndrome and Burkitt Leukemia. | 7 |
| 23018576 | 2013 | Williams-Beuren Syndrome and Burkitt Leukemia. | 7 |
| 20972250 | 2011 | Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. | 25 |
| 20972250 | 2011 | Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. | 25 |
| 20571754 | 2010 | Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. | 31 |
| 20571754 | 2010 | Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. | 31 |
Citation
Nicola Potter
BCL7B (B-cell CLL/lymphoma 7B)
Atlas Genet Cytogenet Oncol Haematol. 2008-12-01
Online version: http://atlasgeneticsoncology.org/gene/779/bcl7b
