Aliases for AEBP2 Gene
External Ids for AEBP2 Gene
Previous GeneCards Identifiers for AEBP2 Gene
GeneCards Summary for AEBP2 Gene
AEBP2 (AE Binding Protein 2) is a Protein Coding gene. Diseases associated with AEBP2 include Waardenburg's Syndrome and Hereditary Lymphedema I. Among its related pathways are Chromatin organization and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is GLI3.
UniProtKB/Swiss-Prot Summary for AEBP2 Gene
Acts as an accessory subunit for the core Polycomb repressive complex 2 (PRC2), which mediates histone H3K27 (H3K27me3) trimethylation on chromatin leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:31959557, PubMed:29499137). Plays a role in nucleosome localization of the PRC2 complex (PubMed:29499137).