CBLL2 Gene: Function, Expression, and Disease Associations | Biomedical Database

CBLL2 (Cbl proto-oncogene like 2) is a protein-coding gene located on the short arm of chromosome 1 (1p36.33). It encodes a protein that shares similarity with the Cbl family of E3 ubiquitin ligases, which are involved in protein ubiquitination and degradation. The exact function of CBLL2 is not fully characterized, but it is predicted to play a role in cellular signaling and protein turnover. Expression data suggest it is present in various tissues, with notable levels in the testis and certain brain regions. Mutations and altered expression of CBLL2 have been implicated in some cancers, though its clinical significance is still under investigation.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Ubiquitin-mediated proteolysis

• EGFR signaling pathway (predicted)

The CBLL2 protein is a putative E3 ubiquitin ligase, containing a RING finger domain and a Cbl-type phosphotyrosine-binding domain. It is predicted to participate in the ubiquitination of target proteins, marking them for degradation via the proteasome. Its expression in testis suggests a possible role in spermatogenesis, while its presence in brain regions hints at neuronal functions. However, the full repertoire of substrates and biological processes remains to be elucidated.