Recombinant Human Autism susceptibility gene 2 protein (AUTS2), partial

1. This study demonstrated that Cocaine-Induced Chromatin Modifications Associate With Increased Expression and Three-Dimensional Looping of Auts2. PMID: 28577753
2. chromatin complexes PRC1/AUTS2 and PRC2 in a gene network in T-ALL regulating early lymphoid differentiation. PMID: 27322685
3. BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases. These genes are all involved in translocations in B-cell malignancies. Moreover, we detected a significant difference in mutation frequency of TP53 and IRF4 with frequencies higher among CA cases. Our study provides rationale for interrogating diverse tumor cohorts to best understand tumor genomics across populations. PMID: 29166413
4. AUTS2 syndrome emerges as a specific ID syndrome with microcephaly. PMID: 27075013
5. This clinical report provides the natural history in the eldest patient yet to be reported, and complements the existing evidence suggesting that disruption of the AUTS2 leads to a recently delineated neurodevelopmental phenotype with a wide spectrum, namely "AUTS2 Syndrome." PMID: 27531620
6. Results showed the frequencies of the AUTS2 haplotypes significantly different between them, and the rs6943555 and rs9886351 A-A haplotype was associated with alcohol dependence in a Japanese population. PMID: 26763194
7. Exonic deletions of AUTS2 is associated with developmental delay and intellectual disability. PMID: 26545289
8. Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory PMID: 26717414
9. The AUTS2 gene has been repeatedly implicated in neurodevelopmental disorders including autism, intellectual disability and developmental delay. PMID: 26348319
10. In summary, our results indicate that AUTS2 is a candidate biomarker for defining liver metastasis of pancreatic cancer and directing personalized therapies. PMID: 25962312
11. similarities between the phenotypes of 2 male patients with AUTS2 variants support that AUTS2 syndrome is a single gene disorder. PMID: 25205402
12. AA homozygotes of rs6943555 were significantly over-represented in the patients with heroin dependence. PMID: 25398668
13. polymorphism rs6943555 might elucidate the pathogenesis of schizophrenia and play an important role in its etiology PMID: 25347278
14. the CK2 component of PRC1-AUTS2 neutralizes PRC1 repressive activity, whereas AUTS2-mediated recruitment of P300 leads to gene activation. PMID: 25519132
15. This is one of the smallest de novo intragenic deletions of AUTS2. PMID: 24459036
16. AUTS2 mutations are associated with autism spectrum disorder. PMID: 24859339
17. AUTS2, its discovery, expression, association with autism and other neurological and non-neurological traits, implication in human evolution, function, regulation, and genetic pathways, are reviewed. PMID: 24008202
18. the role of AUTS2 in normal neurological development and its altered expression may result in a variety of neurobehavioral phenotypes PMID: 22872102
19. AUTS2 rs6943555 A allele is associated with suicide committed after drinking ethanol shortly before death. PMID: 23437340
20. This study indicates that there might be a genetic association of AUTS2 with susceptibility to heroin dependence. Reduced gene expression of AUTS2 in lymphoblastoid cell lines may increase the risk for heroin dependence. PMID: 22995765
21. our results show that AUTS2 is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits. PMID: 23349641
22. These observations demonstrate a causal role of AUTS2 in neurocognitive disorders. PMID: 23332918
23. PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia. PMID: 22578776
24. SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 x 10(-8) to P = 4 x 10(-9)). PMID: 21471458
25. A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 gene is associated with autism. PMID: 20635338

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HGNC: 14262

OMIM: 607270

KEGG: hsa:26053

STRING: 9606.ENSP00000344087

UniGene: Hs.21631