Aliases for ASXL2 Gene
External Ids for ASXL2 Gene
Previous GeneCards Identifiers for ASXL2 Gene
This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]
GeneCards Summary for ASXL2 Gene
ASXL2 (ASXL Transcriptional Regulator 2) is a Protein Coding gene. Diseases associated with ASXL2 include Shashi-Pena Syndrome and Hypertelorism. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Deubiquitination. Gene Ontology (GO) annotations related to this gene include peroxisome proliferator activated receptor binding. An important paralog of this gene is ASXL3.
UniProtKB/Swiss-Prot Summary for ASXL2 Gene
Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3.