protein
Autism susceptibility gene 2 protein
Gene
AUTS2
Organism
Homo sapiens(9606)
Length
1259 aa
Mass
138,982 Da
AUTS2 (autism susceptibility gene 2 protein) is a 1259-amino acid protein that functions as a component of a Polycomb group (PcG) PRC1-like chromatin-remodeling complex (UniProt: Q8WXX7). Within this complex, AUTS2 participates in histone modification and transcriptional regulation. In the cytoplasm, it promotes axon and dendrite elongation and neuronal migration during embryonic brain development by interacting with RAC guanine nucleotide exchange factors to activate RAC1 and reorganize the actin cytoskeleton.
AUTS2 is associated with intellectual developmental disorder, autosomal dominant 26 (MRD26; MIM 615834), a condition characterized by intellectual disability with additional features including autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms (UniProt: Q8WXX7). The protein's dual roles in chromatin regulation and neuronal cytoskeletal dynamics position it at the intersection of transcriptional and developmental processes critical for normal brain formation.
AUTS2 is classified as a syndromic autism-associated gene (SFARI Cat S), reflecting evidence for its involvement in autism-spectrum conditions as part of broader neurodevelopmental syndromes rather than isolated autism susceptibility.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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)
Disease associations
Intellectual developmental disorder, autosomal dominant 26MRD26
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.
Sources
Last updated 5/6/2026, 5:24:20 AM