ASXL2
Description
The ASXL2 (ASXL transcriptional regulator 2) is a protein-coding gene located on chromosome 2.
ASXL2 is a protein encoded by the ASXL2 gene in humans. It belongs to a family of epigenetic regulators that bind to histone-modifying enzymes and are involved in assembling transcription factors at specific genomic loci. Mutations in the ASXL2 gene are linked to cancer in various tissues, including breast, bladder, pancreas, ovary, prostate, and blood. This gene plays a crucial role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis.
ASXL2 is a putative Polycomb group (PcG) protein. PcG proteins form multiprotein complexes that maintain the transcriptionally repressive state of homeotic genes during development. They don't initiate repression but are crucial for maintaining it in later developmental stages. PcG proteins likely act by methylating histones, resulting in heritable changes in chromatin expression. ASXL2 is involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). It acts as a coactivator for PPARG, enhancing its adipocyte differentiation-inducing activity. This function likely involves the differential recruitment of acetylated and methylated histone H3.
ASXL2 is also known as ASXH2, SHAPNS.
