Atlas of Genetics and Cytogenetics in Oncology and Haematology
BCL8 (B-cell CLL/lymphoma 8)
| Identity |
| Other names | BCL8A |
| HGNC (Hugo) | BCL8 |
| Location | 15q11 |
| Location_base_pair | Starts at 19130067 and ends at 19159209 bp from pter ( according to hg18-Mar_2006) |
| 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 |
| Entity | t(14;15)(q32;q11) --> IghV - BCL8 |
| 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 |
 | |
| External links |
| Nomenclature | |
|---|---|
| HGNC (Hugo) | BCL8 1007 |
| Entrez_Gene (NCBI) | BCL8 606 B-cell CLL/lymphoma 8 |
| Cards | |
| Atlas | BCL8ID781ch15q11 |
| GeneCards (Weizmann) | BCL8 |
| Ensembl (Hinxton) | ENSG00000110987 [Gene_View] BCL8 [Vega] |
| AceView (NCBI) | BCL8 |
| Genatlas (Paris) | BCL8 |
| euGene (Indiana) | 606 |
| SOURCE (Stanford) | |
| Genomic and cartography | |
| GoldenPath (UCSC) | BCL8 - 15q11 chr15:19130067-19159209 - 15q11-q13 [Description] (hg18-Mar_2006) |
| Ensembl | BCL8 - 15q11-q13 [CytoView] |
| Mapping of homologs : NCBI | BCL8 [Mapview] |
| OMIM | 601889 |
| Gene and transcription | |
| Gene : Genbank (Entrez) | AL832227 DA278599 |
| Reference sequence (RefSeq transcript) :SRS | |
| Reference transcript : Entrez | |
| RefSeq genomic : SRS | NC_000015 NG_008857 NT_037852 |
| RefSeq genomic : Entrez | NC_000015 NG_008857 NT_037852 |
| Consensus coding sequences : CCDS NCBI | BCL8 |
| Cluster EST : Unigene | Hs.657985 [ SRS ] Hs.657985 [ NCBI ] |
| Protein : pattern, domain, 3D structure | |
| Protein : UniProt/SwissProt | P0C6P0 (SRS) P0C6P0 (Expasy) P0C6P0 (Uniprot) |
| With graphics : InterPro | P0C6P0 |
| Splice isoforms : VarSplice FASTA | P0C6P0(VarSplice FASTA) |
| Related proteins : CluSTr | P0C6P0 |
| Domain families : Pfam SRS | |
| Domain families : Pfam Sanger | |
| Domain families : Pfam NCBI | |
| Blocks (Seattle) | P0C6P0 |
| Crystal structure of protein : PDB SRS | |
| Crystal structure of protein : PDBSum | |
| Crystal structure of protein : IMB | |
| Crystal structure of protein : PDB RSDB | |
| Protein Interaction databases | |
| DIP (DOE-UCLA) | P0C6P0 |
| IntAct (EBI) | P0C6P0 |
| Polymorphism : SNP, mutations, diseases | |
| Single Nucleotide Polymorphism (SNP) : dbSNP NCBI | BCL8 |
| SNP : GeneSNP Utah | BCL8 |
| SNP : HGBase | BCL8 |
| Genetic variants : HAPMAP | BCL8 |
| Mutations and Diseases : HGMD | BCL8 |
| Hereditary diseases : OMIM | 601889 |
| Hereditary diseases : GENETests | 601889 |
| Diseases : Genetic Association | BCL8 |
| General knowledge | |
| Homologs : HomoloGene | BCL8 |
| Homology/Alignments : Family Browser UCSC | BCL8 |
| Phylogenetic Trees/Animal Genes : TreeFam | BCL8 |
| Chemical/Protein Interactions : CTD | 606 |
| Keywords Ontology : AmiGO | |
| Keywords Ontology : EGO-EBI | |
| Pathways : BIOCARTA | |
| Pathways : KEGG | |
| Other databases | |
| Probes | |
| Probes : Imagenes | BCL8 Related clones (RZPD - Berlin) |
| Literature | |
| PubMed | 5 Pubmed reference(s) in Entrez |
| PubGene | BCL8 |
| Bibliography |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 02-2008 | Silvia Rasi, Gianluca Gaidano |
| Division of Hematology, Department of Clinical and Experimental Medicine and Center of Biotechnologies for Applied Medical Research, Amedeo Avogadro University of Eastern Piedmont, Via Solaroli 17, 28100 Novara, Italy |
| Citation |
| This paper should be referenced as such : |
| Rasi S, Gaidano G . BCL8 (B-cell CLL/lymphoma 8). Atlas Genet Cytogenet Oncol Haematol. February 2008 . URL : http://AtlasGeneticsOncology.org/Genes/BCL8ID781ch15q11.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 27 16:41:15 CEST 2009 |
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