NBEAP1 (B-cell CLL/lymphoma 8)
2008-02-01 Silvia Rasi , Gianluca Gaidano AffiliationDivision of Hematology, Department of Clinical, Experimental Medicine, Center of Biotechnologies for Applied Medical Research, Amedeo Avogadro University of Eastern Piedmont, Via Solaroli 17, 28100 Novara, Italy
DNA/RNA
Description
Gene of 86686 bp with 3 exons(1bp-222bp/84886bp-85041bp/86517bp-86686bp). The 5 part of exon 1 and the 3 part of exon 3 are non coding.
Transcription
Two alternative transcripts: a major transcript of 2.6Kb and a less expressed transcript of 4.5Kb, due to differential polyadenylation.
Coding sequence: CDS 208-510.
The direction of transcription is from telomere to centromere.
Coding sequence: CDS 208-510.
The direction of transcription is from telomere to centromere.
Pseudogene
Identified a family of evolutionarily conserved human genes with extensive homology to BCL8; these genes are BCL8B (chr.13), BCL8C (chr.22), BCL8D (chr.2), and BCL8E (chr.10). BCL8B is the most complete gene, whereas the other genes are truncated, can yield only sterile transcripts, and thus are probably pseudogenes.
Proteins
Description
100 amino acids, predicted molecular weight of 19 kDa; predicted: similar to protein neurobeachin (Lysosomal trafficking regulator 2).
Expression
mRNA predominantly expressed in testis and prostate, with no transcripts normally found in hematopoietic tissues. Its expression in lymphoid tissues can be activated by chromosomal translocation or by other mechanisms in diffuse large B-cell lymphoma (DLBCL) patients. BCL8 expression was detected in all patients with 15q11-13 abnormalities and in a significant proportion of DLBCL patients.
Function
Probably produced truncated polypeptides with uncertain function.
Homology
Interspecies: homolog to N-terminal of Caenorhabditis elegans F10.f2.1(59% homology) and to N-terminal of Drosophila melanogaster protein kinase A (PKA) anchoring protein RG (67% homology).
Implicated in
Entity name
Note
Possibly other translocations of BCL8 involve other sites such as 22q11, 9p13, 1p32,7p13, 12q24, and 15q22.
Disease
Translocations affecting BCL8 gene and various partners occur in about 4% of diffuse large B-cell lymphoma (DLBCL). Translocations involving the chromosomal region 15q11-13 have also been identified in non lymphoid tumors.
Prognosis
The effect of BCL8 expression on the prognosis of patients has yet to be investigated.
Hybrid gene
The chromosomal translocation does not led to the formation of a hybrid gene.
Oncogenesis
Chromosomal translocation in DLBCL causes activation of the BCL8 proto-oncogene by deregulated expression of BCL8.
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12160729 | 2002 | BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function. | Dyomin VG et al |
| 9159141 | 1997 | BCL8, a novel gene involved in translocations affecting band 15q11-13 in diffuse large-cell lymphoma. | Dyomin VG et al |
| 11897815 | 2002 | Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q. | Fantes JA et al |
| 11701542 | 2000 | Non-Hodgkin's Lymphoma: Molecular Features of B Cell Lymphoma. | Macintyre E et al |
| 14972786 | 2002 | Molecular heterogeneity of diffuse large B-cell lymphoma: implications for disease management and prognosis. | Rossi D et al |
Other Information
Locus ID:
NCBI: 606
MIM: 601889
HGNC: 1007
Variants:
dbSNP: 606
ClinVar: 606
COSMIC: NBEAP1
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 12160729 | 2002 | BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function. | 4 |
| 12160729 | 2002 | BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function. | 4 |
Citation
Silvia Rasi ; Gianluca Gaidano
NBEAP1 (B-cell CLL/lymphoma 8)
Atlas Genet Cytogenet Oncol Haematol. 2008-02-01
Online version: http://atlasgeneticsoncology.org/gene/781/nbeap1-(b-cell-cll-lymphoma-8)
