Activator of transcription and developmental regulator AUTS2 (AUTS2)

Activator of transcription and developmental regulator AUTS2 (AUTS2) is a nuclear protein encoded by the AUTS2 gene on human chromosome 7q11.22, comprising 19 exons that produce multiple isoforms via alternative splicing and transcription start sites. The protein localizes primarily to the nucleus and regulates gene transcription—most notably, it associates with non-canonical Polycomb Repressive Complex 1 (PRC1) and shifts the complex from a repressor to a transcriptional activator, crucial for central nervous system development. AUTS2 also plays roles in RNA metabolism, evidenced by interactions with RNA-binding proteins and possible direct RNA binding, and in cytoskeletal remodeling in the cytoplasm via activation of Rac1. Loss-of-function mutations or deletions cause neurodevelopmental syndromes (AUTS2 syndrome) characterized by intellectual disability, microcephaly, and distinctive behavioral and morphological features. Although involved in disease, AUTS2 itself is not a conventional druggable target but serves as a key biomarker and mechanistic gene in neurodevelopmental pathology.

Other names

Autism susceptibility gene 2 proteinKIAA0442FBRSL2MRD26autism susceptibility candidate 2autism-related protein 1