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Gene Review

CBLB  -  Cbl proto-oncogene B, E3 ubiquitin protein...

Homo sapiens

Synonyms: Casitas B-lineage lymphoma proto-oncogene b, Cbl-b, E3 ubiquitin-protein ligase CBL-B, Nbla00127, RING finger protein 56, ...
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Disease relevance of CBLB

  • Together with the fact that CBLB is consistently found in blast cells from acute leukemias and in peripheral blood mononuclear cells, this suggests that CBLB has a role in tyrosine kinase-regulated signaling pathways in many hematolymphoid cells [1].
  • We screened coding regions of the human CBLB gene for mutations in a panel of individuals affected with several autoimmune diseases [2].
  • Recent studies of an animal model of T1D, the Komeda diabetes-prone rat, have demonstrated that the Casitas-B-lineage lymphoma b (cblb) gene is a major susceptibility gene in the development of diabetes and other autoimmune features of this rat [2].
  • The CBLB gene and Graves' disease in children [3].

High impact information on CBLB

  • To confirm the two-gene model, we produced a congenic strain carrying mutated Cblb alleles of the KDP rat on a non-KDP genetic background harboring the RT1(u) haplotype on its MHC [4].
  • We have previously shown that two major susceptibility genes, the major histocompatibility complex (MHC) RT1(u) haplotype and Cblb (Casitas B-lineage lymphoma b) mutation, are responsible for the development of diabetes in KDP rats, suggesting a two-gene model for development of the disease [4].
  • In these cells, CBLB constitutively binds the GRB2 adaptor predominantly through its N-terminal SH3 domain, to form a complex that is distinct from the GRB2.CBL and GRB2.SOS1 complexes [1].
  • We have found that CBLB, a recently characterized molecule closely related to the CBL protooncogene product, is phosphorylated on tyrosine(s) following FL treatment of JEA2 human pro-B cells and THP1 monocytic cells [1].
  • Treatment of JEA2 cells with interleukin (IL)-7 induces CBLB phosphorylation as well [1].

Biological context of CBLB

  • To identify variants with possible effects on gene function as well as haplotype tagging polymorphisms, the human CBLB coding region was sequenced in 16 individuals with T1D: no variants predicted to change the amino-acid sequence were identified [5].
  • CBLB was evaluated as a candidate gene for type 1 diabetes (T1D) susceptibility based on its association with autoimmunity in animal models and its role in T-cell costimulatory signaling [5].
  • Seven single-nucleotide polymorphism (SNP) markers spanning the CBLB gene were genotyped in multiplex T1D families and assessed for disease association by transmission disequilibrium testing [5].
  • The heterozygous region spans at least from D11Yok1 to Cblb on rat chromosome 11 [6].

Anatomical context of CBLB

  • By positional cloning of the non-MHC major susceptibility locus lddm/kdp1, we recently identified a nonsense mutation in Cblb and also found that lymphocytes of KDP rats infiltrate into various tissues, indicating autoimmunity [6].

Other interactions of CBLB

  • CBLB variants in type 1 diabetes and their genetic interaction with CTLA4 [2].


  1. The CBL-related protein CBLB participates in FLT3 and interleukin-7 receptor signal transduction in pro-B cells. Lavagna-Sévenier, C., Marchetto, S., Birnbaum, D., Rosnet, O. J. Biol. Chem. (1998) [Pubmed]
  2. CBLB variants in type 1 diabetes and their genetic interaction with CTLA4. Bergholdt, R., Taxvig, C., Eising, S., Nerup, J., Pociot, F. J. Leukoc. Biol. (2005) [Pubmed]
  3. The CBLB gene and Graves' disease in children. Chen, C.C., Huang, C.Y., Huang, F.Y., Dang, C.W., Lin, C.L., Lo, F.S., Lin, C.H., Tsang, C.C., Li, H.J., Liu, H.F., Chu, C.C., Lin, M., Lee, Y.J. J. Pediatr. Endocrinol. Metab. (2005) [Pubmed]
  4. Genetic reconstitution of autoimmune type 1 diabetes with two major susceptibility genes in the rat. Yokoi, N., Hayashi, C., Fujiwara, Y., Wang, H.Y., Seino, S. Diabetes (2007) [Pubmed]
  5. Polymorphic variation in the CBLB gene in human type 1 diabetes. Kosoy, R., Yokoi, N., Seino, S., Concannon, P. Genes Immun. (2004) [Pubmed]
  6. Establishment and characterization of the Komeda diabetes-prone rat as a segregating inbred strain. Yokoi, N., Namae, M., Fuse, M., Wang, H.Y., Hirata, T., Seino, S., Komeda, K. Exp. Anim. (2003) [Pubmed]
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