AUTS2 encodes activator of transcription and developmental regulator AUTS2 (1,259 aa). 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. Highest expression in Nerve Tibial (29.9 TPM) and Skin Sun Exposed Lower leg (24.0 TPM).

Autism spectrum disorder due to AUTS2 deficiency is associated with mutations in the AUTS2 gene on chromosome 7.

AUTS2 is classified as a druggable target with score 0.0.

Genetic testing for AUTS2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autism spectrum disorder due to AUTS2 deficiency has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 3 very common features, 30 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

23 publications have been identified in PubMed for autism spectrum disorder due to AUTS2 deficiency. Research spans Case Report / Case Series (43%), Epidemiology / Natural History (17%), and Review / Meta-Analysis (13%).

Recent Publications

• Zhang Y (2026). [PMID: 41668056](https://pubmed.ncbi.nlm.nih.gov/41668056/). *BMC oral health*. [Epidemiology / Natural History]

• Zhu Z (2026). [PMID: 41808101](https://pubmed.ncbi.nlm.nih.gov/41808101/). *BMC Pediatr*. [Case Report / Case Series]

• Laaraje A (2026). [PMID: 41809613](https://pubmed.ncbi.nlm.nih.gov/41809613/). *Sultan Qaboos University medical journal*. [Case Report / Case Series]

• Liang H (2026). [PMID: 41965552](https://pubmed.ncbi.nlm.nih.gov/41965552/). *BMC Endocr Disord*. [Case Report / Case Series]

• Katz K (2026). [PMID: 41518091](https://pubmed.ncbi.nlm.nih.gov/41518091/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• Kostopoulou E (2026). [PMID: 42065018](https://pubmed.ncbi.nlm.nih.gov/42065018/). *Case Rep Neurol Med*. [Case Report / Case Series]

• Hossain WA (2025). [PMID: 39941075](https://pubmed.ncbi.nlm.nih.gov/39941075/). *International journal of molecular sciences*. [Review / Meta-Analysis]

• Gaudioso F (2025). [PMID: 41562894](https://pubmed.ncbi.nlm.nih.gov/41562894/). *Medical sciences (Basel, Switzerland)*. [Review / Meta-Analysis]

• Vinci M (2025). [PMID: 40650163](https://pubmed.ncbi.nlm.nih.gov/40650163/). *International journal of molecular sciences*. [Review / Meta-Analysis]

• Shimaoka K (2025). [PMID: 39815005](https://pubmed.ncbi.nlm.nih.gov/39815005/). *The EMBO journal*. [Basic Science / Preclinical]