Gene Symbol: AUTS2
Description: AUTS2, activator of transcription and developmental regulator
Alias: FBRSL2, MRD26, autism susceptibility gene 2 protein, autism susceptibility candidate 2, autism-related protein 1
Species: human
Products:     AUTS2

Top Publications

  1. Amarillo I, Li W, Li X, Vilain E, Kantarci S. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders. Am J Med Genet A. 2014;164A:958-65 pubmed publisher
    The autism susceptibility candidate 2 (AUTS2) gene is suggested to play a critical role in early brain development, and its association with intellectual disability (ID), autism spectrum disorders, and other neurodevelopmental disorders (..
  2. Schumann G, Coin L, Lourdusamy A, Charoen P, Berger K, Stacey D, et al. Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. Proc Natl Acad Sci U S A. 2011;108:7119-24 pubmed publisher
    ..SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 × 10(-8) ..
  3. Chen Y, Liao D, Lai C, Chen C. Genetic analysis of AUTS2 as a susceptibility gene of heroin dependence. Drug Alcohol Depend. 2013;128:238-42 pubmed publisher
    ..A recent genetic study reported that the autism susceptibility candidate 2 gene (AUTS2) was involved in regulating the alcohol drinking behavior...
  4. Nagamani S, Erez A, Ben Zeev B, Frydman M, Winter S, Zeller R, et al. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Eur J Hum Genet. 2013;21:343-6 pubmed publisher
    ..Such small CNVs in the Autism susceptibility candidate 2 (AUTS2) gene have been shown to be associated with seizures, ID, and ASDs...
  5. Elia J, Gai X, Xie H, Perin J, Geiger E, Glessner J, et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry. 2010;15:637-46 pubmed publisher
    ..for genes reported as candidates in studies of autism, schizophrenia and Tourette syndrome, including A2BP1, AUTS2, CNTNAP2 and IMMP2L...
  6. Sultana R, Yu C, Yu J, Munson J, Chen D, Hua W, et al. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics. 2002;80:129-34 pubmed
    We report here the identification and characterization of a novel gene (AUTS2) that spans the 7q11.2 breakpoint in a monozygotic twin pair concordant for autism and a t(7;20) (q11.2; p11.2) translocation. AUTS2 is 1.2 Mb and has 19 exons...
  7. Thongkorn S, Kanlayaprasit S, Jindatip D, Tencomnao T, Hu V, Sarachana T. Sex Differences in the Effects of Prenatal Bisphenol A Exposure on Genes Associated with Autism Spectrum Disorder in the Hippocampus. Sci Rep. 2019;9:3038 pubmed publisher
    ..Among the DEGs, several ASD candidate genes, including Auts2 and Foxp2, were dysregulated and showed sex differences in response to BPA exposure...
  8. Denk D, Bradtke J, König M, Strehl S. PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature. Mol Cytogenet. 2014;7:13 pubmed publisher
    ..highly similar translocations lead to the expression of one of three different in frame PAX5-fusions, namely with AUTS2 (7q11.22), ELN (7q11.23), or POM121 (7q11...
  9. Gao K, Zhang Y, Zhang L, Kong W, Xie H, Wang J, et al. Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis. Adv Neurobiol. 2018;21:247-266 pubmed publisher
    ..We also found a gene motif "BGNADP", constructed by BTD, GALNT10, NMUR2, AUTS2, DLG2 and PTPRD, would be a key motif in epilepsy and ID/DD...

More Information


  1. Escala Garcia M, Guo Q, Dork T, Canisius S, Keeman R, Dennis J, et al. Genome-wide association study of germline variants and breast cancer-specific mortality. Br J Cancer. 2019;: pubmed publisher
    ..88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1...
  2. Wang Q, Geng Z, Gong Y, Warren K, Zheng H, Imamura Y, et al. WDR68 is essential for the transcriptional activation of the PRC1-AUTS2 complex and neuronal differentiation of mouse embryonic stem cells. Stem Cell Res. 2018;33:206-214 pubmed publisher
    ..We previously identified a type 1 PRC (PRC1) that contains Autism Susceptibility Candidate 2 (AUTS2), which positively regulates transcription of neuronal genes...
  3. Behnia F, Parets S, Kechichian T, Yin H, Dutta E, Saade G, et al. Fetal DNA methylation of autism spectrum disorders candidate genes: association with spontaneous preterm birth. Am J Obstet Gynecol. 2015;212:533.e1-9 pubmed publisher
    ..for genes that have been implicated in ASD yielded 14 candidate genes (OXTR, SHANK3, BCL2, RORA, EN2, RELN, MECP2, AUTS2, NLGN3, NRXN1, SLC6A4, UBE3A, GABA, AFF2) that were epigenetically modified in relation to ASD...
  4. Oksenberg N, Haliburton G, Eckalbar W, Oren I, Nishizaki S, Murphy K, et al. Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Transl Psychiatry. 2014;4:e431 pubmed publisher
    The autism susceptibility candidate 2 gene (AUTS2) has been associated with multiple neurological diseases including autism spectrum disorders (ASDs)...
  5. Chuang H, Huang T, Hsueh Y. T-Brain-1--A Potential Master Regulator in Autism Spectrum Disorders. Autism Res. 2015;8:412-26 pubmed publisher
    ..Among these 24 genes, four transcription factors Auts2, Nfia, Nr4a2, and Sox5 were found, suggesting that TBR1 controls a transcriptional cascade relevant to autism ..
  6. Magnani C, Mezzanotte C, Cappuzzello C, Bardini M, Tettamanti S, Fazio G, et al. Preclinical efficacy and safety of CD19CAR Cytokine-induced killer (CIK) cells transfected with Sleeping Beauty transposon for the treatment of acute lymphoblastic leukemia. Hum Gene Ther. 2018;: pubmed publisher
    ..antitumor response and prolonged persistence in a PDX, bearing the feature of a Philadelphia-like ALL with PAX5/AUTS2 translocation, and in a survival model of lymphoma, achieving complete eradication of disseminated tumors...
  7. Pizzo L, Jensen M, Polyak A, Rosenfeld J, Männik K, Krishnan A, et al. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genet Med. 2018;: pubmed publisher
    ..2 deletion. These co-occurring hits involved known disease-associated genes such as SETD5, AUTS2, and NRXN1, and were enriched for cellular and developmental processes...
  8. Hori K, Nagai T, Shan W, Sakamoto A, Taya S, Hashimoto R, et al. Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis. Cell Rep. 2014;9:2166-79 pubmed publisher
    Mutations in the Autism susceptibility candidate 2 gene (AUTS2), whose protein is believed to act in neuronal cell nuclei, have been associated with multiple psychiatric illnesses, including autism spectrum disorders, intellectual ..
  9. Si S, Nakajima Takagi Y, Aoyama K, Oshima M, Saraya A, Sugishita H, et al. Loss of Pcgf5 Affects Global H2A Monoubiquitination but Not the Function of Hematopoietic Stem and Progenitor Cells. PLoS ONE. 2016;11:e0154561 pubmed publisher
    ..5, one of the non-canonical PRC1, consisting of Ring1a/b, Rybp/Yaf2 and Auts2. However, the biological functions of Pcgf5 have not yet been identified...
  10. Hori K, Hoshino M. Neuronal Migration and AUTS2 Syndrome. Brain Sci. 2017;7: pubmed publisher
    ..Recently, a key gene for various psychiatric diseases, the Autism susceptibility candidate 2 (AUTS2), has been shown to regulate neuronal migration, which gives new insight into ..
  11. Engmann O, Labonte B, Mitchell A, Bashtrykov P, Calipari E, Rosenbluh C, et al. Cocaine-Induced Chromatin Modifications Associate With Increased Expression and Three-Dimensional Looping of Auts2. Biol Psychiatry. 2017;82:794-805 pubmed publisher
    ..We focused on Auts2, a gene linked to human evolution and cognitive disorders, which displays strong clustering of cocaine-induced ..
  12. Chen S, Liao D, Shen T, Yang H, Chen K, Chen C. Genetic signatures of heroin addiction. Medicine (Baltimore). 2016;95:e4473 pubmed publisher
    ..We first measured the transcript level of 13 genes (RASA1, PRKCB, PDK1, JUN, CEBPG, CD74, CEBPB, AUTS2, ENO2, IMPDH2, HAT1, MBD1, and RGS3) in lymphoblastoid cell lines in a sample of 124 male heroin addicts and 124 ..
  13. Ropers H, Wienker T. Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. Eur J Med Genet. 2015;58:715-8 pubmed publisher
    ..also detected in several other genes for ID and related disorders, including CDH15, KATNAL2, DEPDC5, ARID1B and AUTS2, both in the ExAC database and in the 6,500 exomes of the Exome Variant Server (
  14. Zhu Y, Xing B, Dang W, Ji Y, Yan P, Li Y, et al. AUTS2 in the nucleus accumbens is essential for heroin-induced behavioral sensitization. Neuroscience. 2016;333:35-43 pubmed publisher
    b>Autism susceptibility candidate 2 (AUTS2) is a gene associated with autism and mental retardation...
  15. Kondrychyn I, Robra L, Thirumalai V. Transcriptional Complexity and Distinct Expression Patterns of auts2 Paralogs in Danio rerio. G3 (Bethesda). 2017;7:2577-2593 pubmed publisher
    ..The autism susceptibility candidate 2 (AUTS2) gene is associated with various neurological disorders, including autism and brain ..
  16. Russo D, Della Ragione F, Rizzo R, Sugiyama E, Scalabrì F, Hori K, et al. Glycosphingolipid metabolic reprogramming drives neural differentiation. EMBO J. 2018;37: pubmed publisher
    ..We find that globo-series glycosphingolipids repress the epigenetic regulator of neuronal gene expression AUTS2. AUTS2 in turn binds and activates the promoter of the first and rate-limiting ganglioside-producing enzyme GM3 ..
  17. Jorgenson E, Thai K, Hoffmann T, Sakoda L, Kvale M, Banda Y, et al. Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. Mol Psychiatry. 2017;22:1359-1367 pubmed publisher
    ..04, P=5 × 10-4 for drinker status), respectively. Finally, we also obtained confirmatory results extending previous findings implicating AUTS2, SGOL1 and SERPINC1 genes in alcohol consumption traits in non-Hispanic whites.
  18. Sengun E, Yararbas K, Kasakyan S, Alanay Y. AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype. Am J Med Genet A. 2016;170:3231-3236 pubmed publisher
    ..SNP array analysis demonstrated a 257?kb deletion comprising exon 6 of AUTS2. This clinical report provides the natural history in the eldest patient yet to be reported, and complements the ..
  19. Manojlovic Z, Christofferson A, Liang W, Aldrich J, Washington M, Wong S, et al. Comprehensive molecular profiling of 718 Multiple Myelomas reveals significant differences in mutation frequencies between African and European descent cases. PLoS Genet. 2017;13:e1007087 pubmed publisher
    ..Of interest, BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases...
  20. Chen S, Chen F, Hsu Y, Kuo P. Systematic Analysis of Transcriptomic Profile of Renal Cell Carcinoma under Long-Term Hypoxia Using Next-Generation Sequencing and Bioinformatics. Int J Mol Sci. 2017;18: pubmed publisher
    ..The upregulated (L1CAM and FBN1) and downregulated (AUTS2, MAPT, AGT and USH1C) genes in 786-O under long-term hypoxia were also observed in ..
  21. Nagel S, Pommerenke C, Meyer C, Kaufmann M, Drexler H, MacLeod R. Deregulation of polycomb repressor complex 1 modifier AUTS2 in T-cell leukemia. Oncotarget. 2016;7:45398-45413 pubmed publisher
    ..region of MEF2C (located at chromosomal band 5q14) and an intergenic stretch at 7q11 located between STAG3L4 and AUTS2, covering nearly 20 kb...
  22. Han Y, Ru G, Mou X, Wang H, Ma Y, He X, et al. AUTS2 is a potential therapeutic target for pancreatic cancer patients with liver metastases. Med Hypotheses. 2015;85:203-6 pubmed publisher
    ..In this study, we show that (A) AUTS2 is overexpressed in liver metastases of pancreatic cancer and could be a biomarker for defining cancer subtypes...
  23. Lee S, Obata Y, Yoshida M, Stockert E, Williamson B, Jungbluth A, et al. Immunomic analysis of human sarcoma. Proc Natl Acad Sci U S A. 2003;100:2651-6 pubmed
    ..NY-SAR-35 is therefore a potential target for cancer vaccines and monoclonal antibody-based immunotherapies. ..
  24. Li R, Brockschmidt F, Kiefer A, Stefansson H, Nyholt D, Song K, et al. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet. 2012;8:e1002746 pubmed publisher
    ..78, p?=?1.4×10???]. Our results highlight unexpected associations between early-onset AGA, Parkinson's disease, and decreased fertility, providing important insights into the pathophysiology of these conditions. ..
  25. Lee H, Woo H, Greenwood T, Kripke D, Kelsoe J. A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. J Affect Disord. 2013;145:200-7 pubmed publisher
    ..12×10(-7), OR=0.4). These data suggest that genetic variants in the NF1A gene region may predispose to seasonal patterned of mania in bipolar disorder. ..
  26. Beunders G, Voorhoeve E, Golzio C, Pardo L, Rosenfeld J, Talkowski M, et al. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet. 2013;92:210-20 pubmed publisher
    Genomic rearrangements involving AUTS2 (7q11.22) are associated with autism and intellectual disability (ID), although evidence for causality is limited...
  27. Oksenberg N, Stevison L, Wall J, Ahituv N. Function and regulation of AUTS2, a gene implicated in autism and human evolution. PLoS Genet. 2013;9:e1003221 pubmed publisher
    Nucleotide changes in the AUTS2 locus, some of which affect only noncoding regions, are associated with autism and other neurological disorders, including attention deficit hyperactivity disorder, epilepsy, dyslexia, motor delay, ..
  28. Chojnicka I, Gajos K, Strawa K, Broda G, Fudalej S, Fudalej M, et al. Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene. PLoS ONE. 2013;8:e57199 pubmed publisher
    rs6943555 in AUTS2 has been shown to modulate ethanol consumption. We hypothesized that rs6943555 might be associated with completed suicide...
  29. Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, et al. Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. Nat Genet. 2014;46:742-7 pubmed publisher
    ..91 × 10(-157); OR = 9.52). Our results suggest that brain-expressed exons under purifying selection should be prioritized in genotype-phenotype studies for ASD and related neurodevelopmental conditions. ..
  30. Hori K, Nagai T, Shan W, Sakamoto A, Abe M, Yamazaki M, et al. Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory. PLoS ONE. 2015;10:e0145979 pubmed publisher
    Mutations in the Autism susceptibility candidate 2 gene (AUTS2) have been associated with a broad range of psychiatric illnesses including autism spectrum disorders, intellectual disability and schizophrenia...
  31. Jolley A, Corbett M, McGregor L, Waters W, Brown S, Nicholl J, et al. De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review. Am J Med Genet A. 2013;161A:1508-12 pubmed publisher
  32. Hamshere M, Green E, Jones I, Jones L, Moskvina V, Kirov G, et al. Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. Br J Psychiatry. 2009;195:23-9 pubmed publisher
    ..Genes having at least one associated polymorphism at P<10(-4) included B3GALTS, A2BP1, GABRB1, AUTS2, BSN, PTPRG, GIRK2 and CDH12...
  33. Huang X, Zou Y, Maher T, Newton S, Milunsky J. A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am J Med Genet A. 2010;152A:2112-4 pubmed publisher
  34. Narita S, Ikeda K, Nishizawa D, Yoshihara E, Numajiri M, Onozawa Y, et al. No Association between the Polymorphism rs6943555 in the AUTS2 Gene and Personality Traits in Japanese University Students. Psychiatry Investig. 2017;14:681-686 pubmed publisher
    The autism susceptibility candidate 2 (AUTS2) gene has been implicated in multiple neurological disorders...
  35. Nagel S, Pommerenke C, Meyer C, Kaufmann M, MacLeod R, Drexler H. NKL homeobox gene MSX1 acts like a tumor suppressor in NK-cell leukemia. Oncotarget. 2017;8:66815-66832 pubmed publisher
    ..procedure revealed several deregulated genes including overexpressed IRF4, MIR155HG and MIR17HG and downregulated AUTS2, EP300, GATA3 and HHEX...
  36. Oksenberg N, Ahituv N. The role of AUTS2 in neurodevelopment and human evolution. Trends Genet. 2013;29:600-8 pubmed publisher
    The autism susceptibility candidate 2 (AUTS2) gene is associated with multiple neurological diseases, including autism, and has been implicated as an important gene in human-specific evolution...
  37. Beunders G, de Munnik S, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen A, et al. Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. Eur J Hum Genet. 2015;23:803-7 pubmed publisher
    b>AUTS2 syndrome is characterized by low birth weight, feeding difficulties, intellectual disability, microcephaly and mild dysmorphic features...
  38. Zhang B, Xu Y, Wei S, Zhang H, Fu D, Feng Z, et al. Association study identifying a new susceptibility gene (AUTS2) for schizophrenia. Int J Mol Sci. 2014;15:19406-16 pubmed publisher
    ..The autism susceptibility candidate 2 (AUTS2) gene has been reported to be associated with autism, suicide, alcohol consumption, and ..
  39. Gao Z, Lee P, Stafford J, von Schimmelmann M, Schaefer A, Reinberg D. An AUTS2-Polycomb complex activates gene expression in the CNS. Nature. 2014;516:349-54 pubmed publisher
    ..a core assembly of Polycomb group proteins and additional factors that include, surprisingly, autism susceptibility candidate 2 (AUTS2)...
  40. Fan Y, Qiu W, Wang L, Gu X, Yu Y. Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability. Am J Med Genet A. 2016;170A:515-522 pubmed publisher
    ..Increasing evidences suggest copy number variations (CNVs) of autism susceptibility candidate gene 2 (AUTS2) are associated with a syndromic form of developmental delay and intellectual disability...
  41. Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, et al. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. J Med Genet. 2016;53:523-32 pubmed publisher
    b>AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2...
  42. Dang W, Zhang Q, Zhu Y, Lu X. The evidence for the contribution of the autism susceptibility candidate 2 (AUTS2) gene in heroin dependence susceptibility. J Mol Neurosci. 2014;54:811-9 pubmed publisher
    The single-nucleotide polymorphisms (SNP) rs6943555 in autism susceptibility candidate 2 (AUTS2) has been reported to be significantly associated with alcohol consumption in Europeans...
  43. Myung W, Kim J, Lim S, Shim S, Won H, Kim S, et al. A genome-wide association study of antidepressant response in Koreans. Transl Psychiatry. 2015;5:e633 pubmed publisher
    ..The two SNPs significantly associated with antidepressant response are rs7785360 and rs12698828 of the AUTS2 gene, located on chromosome 7 in 7q11.22...
  44. Denk D, Nebral K, Bradtke J, Pass G, Möricke A, Attarbaschi A, et al. PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia. Leuk Res. 2012;36:e178-81 pubmed publisher
    ..We have identified the third case with a PAX5-AUTS2 fusion, which results from unbalanced t(7;9)(q11.2;p13.2) rearrangements...
  45. Narita S, Nagahori K, Nishizawa D, Yoshihara E, Kawai A, Ikeda K, et al. Association between AUTS2 haplotypes and alcohol dependence in a Japanese population. Acta Neuropsychiatr. 2016;28:214-20 pubmed publisher
    Recent genome-wide analysis has indicated that the autism susceptibility candidate 2 (AUTS2) gene is involved in the regulation of alcohol consumption...