FAM86B1 Gene: Function, Expression, and Disease Associations | Biomedical Database

FAM86B1 is a protein-coding gene located on chromosome 8q24.21, a region frequently amplified in various cancers. The encoded protein belongs to the FAM86 family, which shares sequence similarity with class I methyltransferases, particularly those targeting lysine residues. Although its exact enzymatic activity and substrates remain to be fully characterized, FAM86B1 is predicted to function as a protein methyltransferase, potentially involved in post-translational modification of proteins that regulate cell proliferation, differentiation, and stress responses. Its expression is observed in multiple tissues, with notable levels in the testis and certain cancer cell lines. Alterations in FAM86B1 expression or copy number have been reported in several malignancies, suggesting a possible oncogenic role. However, functional studies are limited, and further research is needed to clarify its biological significance and clinical implications.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• No specific pathways are curated for FAM86B1 in major databases. It is predicted to be involved in protein methylation processes.

The FAM86B1 protein is a putative class I methyltransferase, characterized by a conserved S-adenosylmethionine (SAM) binding domain. It is predicted to methylate lysine residues on target proteins, thereby modulating their function, stability, or interactions. The protein is localized in both the cytoplasm and nucleus, suggesting roles in multiple cellular compartments. Its expression is highest in testis, indicating a potential role in spermatogenesis or germ cell development. In cancer, FAM86B1 overexpression may contribute to malignant transformation by altering the methylation status of oncogenic or tumor suppressor proteins. However, the specific substrates and biological pathways remain to be experimentally validated.