BCL7B (B-cell CLL/lymphoma 7B)

2008-12-01   Nicola Potter 

Department of Molecular Neuroscience, Institute of Neurology, University College London, National Hospital for Neurology, Neurosurgery, London, WC1N 3BG, UK

Identity

HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
-
FUSION GENES

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.

Bibliography

Pubmed IDLast YearTitleAuthors
153813802004Non-Hodgkin lymphoma in a child with Williams syndrome.Amenta S et al
81291941994Occurrence of non-Hodgkin's lymphoma in Williams syndrome--case report.Felice PV et al
99314211998The BCL7 gene family: deletion of BCL7B in Williams syndrome.Jadayel DM et al
98603021998Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes.Meng X et al
186706372008Genomic deletions correlate with underexpression of novel candidate genes at six loci in pediatric pilocytic astrocytoma.Potter N et al
38432621985Occurrence 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

Gene IDTranscript IDUniprot
ENSG00000106635ENST00000223368Q9BQE9
ENSG00000106635ENST00000411832Q9BQE9
ENSG00000106635ENST00000448175F8WE18
ENSG00000106635ENST00000454871F8WDZ4
ENSG00000106635ENST00000455335F2Z3H6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
205717542010Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.26
209722502011Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.20
255692332015The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway.9
230185762013Williams-Beuren Syndrome and Burkitt Leukemia.5
277714732016Williams syndrome and mature B-Leukemia: A random association?3
311669912019Overexpression of PODXL/ITGB1 and BCL7B/ITGB1 accurately predicts unfavorable prognosis compared to the TNM staging system in postoperative pancreatic cancer patients.0

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