AUTS2
Domain
The Pro-rich region is important for the interaction with RAC guanine nucleotide exchange factors and the subsequent activation of RAC1, which then promotes lamellipodia formation.
Function
Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity).
Involvement in disease
Intellectual developmental disorder, autosomal dominant 26
MRD26
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the AUTS2 family.
Tissue Specificity
Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes.
Cellular localization
- Nucleus
- Cytoplasm
- Cytoskeleton
- Cell projection
- Growth cone
- Detected both in cytoplasm and nucleus. Colocalizes with RAC1 at actin-rich growth cones. Detected on the promoter region of actively transcribed genes.
Alternative names
KIAA0442, AUTS2, Autism susceptibility gene 2 protein