Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

NBEAP1 (B-cell CLL/lymphoma 8)

Written2008-02Silvia Rasi, Gianluca Gaidano
Division 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

(Note : for Links provided by Atlas : click)

Identity

Other aliasBCL8
BCL8A
LocusID (NCBI) 606
Atlas_Id 781
Location 15q11.2  [Link to chromosome band 15q11]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NBEAP1 (15q11.2) / ZNF321P (19q13)NBEAP1 (15q11.2) / ZNF321P (19q13.41)SPATA48 (7p12.2) / NBEAP1 (15q11.2)

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.
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.

Protein

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

Note
  
Entity t(14;15)(q32;q11) --> IGH -BCL2
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/Mutated 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

 

Bibliography

BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function.
Dyomin VG, Chaganti SR, Dyomina K, Palanisamy N, Murty VV, Dalla-Favera R, Chaganti RS
Genomics. 2002 ; 80 (2) : 158-165.
PMID 12160729
 
BCL8, a novel gene involved in translocations affecting band 15q11-13 in diffuse large-cell lymphoma.
Dyomin VG, Rao PH, Dalla-Favera R, Chaganti RS
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (11) : 5728-5732.
PMID 9159141
 
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, Mewborn SK, Lese CM, Hedrick J, Brown RL, Dyomin V, Chaganti RS, Christian SL, Ledbetter DH
Journal of medical genetics. 2002 ; 39 (3) : 170-177.
PMID 11897815
 
Non-Hodgkin's Lymphoma: Molecular Features of B Cell Lymphoma.
Macintyre E, Willerford D, Morris SW
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2000 : 180-204.
PMID 11701542
 
Molecular heterogeneity of diffuse large B-cell lymphoma: implications for disease management and prognosis.
Rossi D, Gaidano G
Hematology (Amsterdam, Netherlands). 2002 ; 7 (4) : 239-252.
PMID 14972786
 

Citation

This paper should be referenced as such :
Rasi, S ; Gaidano, G
BCL8 (B-cell CLL/lymphoma 8)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):419-420.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BCL8ID781ch15q11.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(14;15)(q32;q11) IGH/NBEAP1
IGH/NBEAP1 ()
t(14;15)(q32;q11) IGH/NBEAP1
IGH/NBEAP1 ()


External links

Nomenclature
Cards
AtlasBCL8ID781ch15q11.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)606
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 18 17:29:41 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.