Overview

Location [1]
11q23.3
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
E3 ubiquitin-protein ligase CBL
Synonyms [1]
NSLL, RNF55, CBL2, FRA11B, C-CBL

Casitas B-lineage Lymphoma (CBL) proto-oncogene is a gene that encodes the CBL protein, which is a RING finger E3 ubiquitin ligase. This ligase is an enzyme that functions in the tagging of substrates for degradation by the proteasome. Fusions, nonsense and silent mutations are observed in cancers such as acute myeloid leukemia, colorectal cancer, endometrial cancer, and skin cancer.

CBL is altered in 1.50% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

CBL GENIE Cases - Top Diseases

The most common alterations in CBL are CBL Mutation (1.67%), CBL c.1096-c.1259 Missense (0.38%), CBL Loss (0.08%), CBL Amplification (0.05%), and CBL R420Q (0.03%) [3].

CBL GENIE Cases - Top Alterations

Significance of CBL in Diseases

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Myelodysplastic Syndromes +

Myelodysplastic/Myeloproliferative Neoplasm +

Myeloid Neoplasm +

Non-Small Cell Lung Carcinoma +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Hepatocellular Carcinoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.