Written | 1999-09 | Olivier Rosnet |
Centre d'Immunologie INSERM-CNRS de Marseille-Luminy Case 906, 13288 Marseille Cedex 9, France |
Identity |
Alias (NCBI) | CBL2 |
HGNC (Hugo) | CBL |
HGNC Alias symb | RNF55 | c-Cbl |
HGNC Alias name | oncogene CBL2 |
HGNC Previous name | CBL2 |
HGNC Previous name | "Cas-Br-M (murine) ecotropic retroviral transforming sequence | Cbl proto-oncogene, E3 ubiquitin protein ligase" |
LocusID (NCBI) | 867 |
Atlas_Id | 171 |
Location | 11q23.3 [Link to chromosome band 11q23] |
Location_base_pair | Starts at 119206339 and ends at 119308149 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping CBL.png] |
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CBL (11q23) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
CBL (11q23.3) / CBL (11q23.3) | CBL (11q23.3) / CXCR5 (11q23.3) | CBL (11q23.3) / KANK1 (9p24.3) | |
CBL (11q23.3) / KMT2A (11q23.3) | CBL (11q23.3) / PHLDB1 (11q23.3) | CBL (11q23.3) / SLC25A1 (22q11.21) | |
CBL (11q23.3) / VWA5A (11q24.2) | KMT2A (11q23.3) / CBL (11q23.3) |
DNA/RNA |
Transcription | 10.5 kb; 2718 bp open reading frame |
Protein |
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Description | 906 amino acids; 115 kDa; the evolutionarily conserved amino-terminal region of CBL is composed of three interacting domains: a four-helix bundle (4H), an EF-hand calcium binding domain, and a divergent SH2 domain; the three domains together form an integrated phosphoprotein-recognition module; this aminoterminal region is followed by a central Ring finger with a Cys3HisCys4 motif and a carboxy-terminal region with multiple proline-rich sequences, a putative leucine zipper and several potential tyrosine phosphorylation sites |
Expression | ubiquitous but predominant in hematopoietic cells |
Localisation | cytoplasmic; cellular activation induces translocation of CBL to the plasma membrane or cytoskeleton |
Function | CBL has been shown to have a negative regulatory activity in protein tyrosine kinase-mediated signaling pathways; CBL overexpresion inhibits cell growth resulting from activation of the EGF and PDGF receptors (EGFR, PDGFRa, PDFFRb) and enhances ubiquitination and degradation of these receptors; CBL also negatively regulates the tyrosine phosphorylation of ZAP70 substrates in T cells |
Mutations |
Germinal | the fragile site FRA11B has been localized to a stretch of CCG trinucleotides found in the 5' part of the CBL gene and has been involved in the pathogenesis of a proportion of inherited Jacobsen syndroms (OMIM 147791) which have a del(11)(q23qter) telomeric of an expansion of the stretch of CCG tripletsSOMATIC in 9% of the genetically unstable sporadic gastrointestinal tumors, an extension of an ATG trinucleotide repeat with no translation shift was detected in the coding region of CBL; this alteration was not present in cancers without the mutator phenotype |
Implicated in |
Note | |
Entity | gastrointestinal tumors (see above) |
Bibliography |
The sequences of the human and mouse c-cbl proto-oncogenes show v-cbl was generated by a large truncation encompassing a proline-rich domain and a leucine zipper-like motif. |
Blake TJ, Shapiro M, Morse HC 3rd, Langdon WY |
Oncogene. 1991 ; 6 (4) : 653-657. |
PMID 2030914 |
The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors. |
Calin G, Herlea V, Barbanti-Brodano G, Negrini M |
Cancer research. 1998 ; 58 (17) : 3777-3781. |
PMID 9731483 |
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. |
Jones C, Penny L, Mattina T, Yu S, Baker E, Voullaire L, Langdon WY, Sutherland GR, Richards RI, Tunnacliffe A |
Nature. 1995 ; 376 (6536) : 145-149. |
PMID 7603564 |
v-cbl, an oncogene from a dual-recombinant murine retrovirus that induces early B-lineage lymphomas. |
Langdon WY, Hartley JW, Klinken SP, Ruscetti SK, Morse HC 3rd |
Proceedings of the National Academy of Sciences of the United States of America. 1989 ; 86 (4) : 1168-1172. |
PMID 2784003 |
Cbl: complex formation and functional implications. |
Liu YC, Altman A |
Cellular signalling. 1998 ; 10 (6) : 377-385. |
PMID 9720760 |
Citation |
This paper should be referenced as such : |
Rosnet, O |
CBL (Cas-Br-M (murine) ecotropic retroviral transforming sequence) |
Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):130-131. |
Free journal version : [ pdf ] [ DOI ] |
Other Leukemias implicated (Data extracted from papers in the Atlas) [ 8 ] |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ] |
CBL/CXCR5 (11q23)
CBL/PHLDB1 (11q23) t(11;11)(q23;q24) CBL/VWA5A |
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 Feb 19 17:47:15 CET 2021 |
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