| Written | 2008-12 | Nicola Potter |
| Department of Molecular Neuroscience, Institute of Neurology, University College London, National Hospital for Neurology, Neurosurgery, London, WC1N 3BG, UK |
| Identity |
| Alias_names | B-cell CLL/lymphoma 7B |
| Other alias | |
| HGNC (Hugo) | BCL7B |
| LocusID (NCBI) | 9275 |
| Atlas_Id | 779 |
| Location | 7q11.23 [Link to chromosome band 7q11] |
| Location_base_pair | Starts at 73536353 and ends at 73557735 bp from pter ( according to hg19-Feb_2009) [Mapping BCL7B.png] |
| Local_order | BCL7B is flanked by BAZ1B and TBL2. |
| Fusion genes (updated 2016) | DENND5B (12p11.21) / BCL7B (7q11.23) | NSUN5 (7q11.23) / BCL7B (7q11.23) | SMCO4 (11q21) / BCL7B (7q11.23) |
| 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. |
| Protein |
| 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 |
| Note | |
| Entity | 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 | Burkitt lymphoma |
| 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 | 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. |
| Bibliography |
| Non-Hodgkin lymphoma in a child with Williams syndrome. |
| Amenta S, Moschovi M, Sofocleous C, Kostaridou S, Mavrou A, Fryssira H. |
| Cancer Genet Cytogenet. 2004 Oct 1;154(1):86-8. |
| PMID 15381380 |
| Occurrence of non-Hodgkin's lymphoma in Williams syndrome: case report. |
| Felice PV, Ritter SD, Anto J. |
| Angiology. 1994 Feb;45(2):167-70. |
| PMID 8129194 |
| The BCL7 gene family: deletion of BCL7B in Williams syndrome. |
| Jadayel DM, Osborne LR, Coignet LJ, Zani VJ, Tsui LC, Scherer SW, Dyer MJ. |
| Gene. 1998 Dec 11;224(1-2):35-44. |
| PMID 9931421 |
| Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. |
| Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT. |
| Hum Genet. 1998 Nov;103(5):590-9. |
| PMID 9860302 |
| Genomic deletions correlate with underexpression of novel candidate genes at six loci in pediatric pilocytic astrocytoma. |
| Potter N, Karakoula A, Phipps KP, Harkness W, Hayward R, Thompson DN, Jacques TS, Harding B, Thomas DG, Palmer RW, Rees J, Darling J, Warr TJ. |
| Neoplasia. 2008 Aug;10(8):757-72. |
| PMID 18670637 |
| Occurrence of an astrocytoma in a patient with Williams syndrome. |
| Semmekrot BA, Rotteveel JJ, Bakker-Niezen SH, Logt F. |
| Pediatr Neurosci. 1985-1986;12(3):188-91. |
| PMID 3843262 |
| Citation |
| This paper should be referenced as such : |
| Potter, N |
| BCL7B (B-cell CLL/lymphoma 7B) |
| Atlas Genet Cytogenet Oncol Haematol. 2009;13(11):778-779. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/BCL7BID779ch7q11.html |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:01:46 CEST 2017 |
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