FAM120A Gene - Function, Mutations, and Disease Associations | NCBI, UniProt, OMIM

FAM120A (Family With Sequence Similarity 120 Member A) is a protein-coding gene located on chromosome 9q22.31. The encoded protein functions as a constitutive coactivator of peroxisome proliferator-activated receptor gamma (PPARG) and as a scaffold protein for SRC family kinases (SFKs), facilitating their activation and downstream signaling. FAM120A is implicated in cellular processes such as proliferation, migration, and metabolism. Alterations in FAM120A expression and mutations have been reported in various cancers, including hepatocellular carcinoma and colorectal cancer.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• PPAR signaling pathway

• SRC family kinase signaling

• Focal adhesion

The FAM120A protein (UniProt Q9BYB4) is a 1,088-amino-acid scaffold that contains a coiled-coil domain and multiple phosphorylation sites. It constitutively binds PPARG and enhances its transcriptional activity. Additionally, FAM120A interacts with SRC family kinases (e.g., SRC, YES1) via its SH3-binding motifs, promoting their autophosphorylation and activation. The protein is predominantly cytoplasmic but can translocate to the nucleus upon stimulation. FAM120A is overexpressed in several cancers and is considered a potential therapeutic target.