Affinage

AUTS2

Autism susceptibility gene 2 protein · UniProt Q8WXX7

Length
1259 aa
Mass
139.0 kDa
Annotated
2026-04-28
74 papers in source corpus 24 papers cited in narrative 24 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

AUTS2 is a multifunctional neurodevelopmental regulator that operates through distinct nuclear and cytoplasmic mechanisms to control neuronal differentiation, migration, and synaptic homeostasis. In the nucleus, AUTS2 converts non-canonical PRC1 complexes (ncPRC1.3/ncPRC1.5) from transcriptional repressors to activators by recruiting the histone acetyltransferase P300 through its HX repeat domain, with NRF1 required for chromatin targeting; AUTS2 also cooperates with PRC2 to maintain H3K27me3-mediated repression of specific targets such as Robo1 in intermediate progenitor cells, thereby controlling cortical neurogenesis (PMID:34637754, PMID:39815005, PMID:25180570). In the cytoplasm, AUTS2 activates Rac1 and suppresses Cdc42 in neuronal growth cones to regulate actin dynamics and neuronal migration, and it forms a PRC1-independent AWS complex with WDR68 and SKI that promotes neuronal differentiation by targeting phosphorylated SMAD1/5/9 for proteasomal degradation via CUL4-mediated ubiquitination (PMID:25533347, PMID:36258139). Postnatally, AUTS2 limits excitatory synapse number to maintain excitation/inhibition balance, and its loss causes autistic-like behaviors, dentate gyrus hypoplasia, and microcephaly, while AUTS2 additionally associates with RNA-binding proteins and directly binds RNA transcripts, negatively regulates WNT/β-catenin signaling during neuronal differentiation, and influences metabolic homeostasis in neurons (PMID:32498016, PMID:34013328, PMID:39174599, PMID:35235353).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 2009 Medium

    Establishing where AUTS2 protein is expressed resolved the first prerequisite for mechanistic study: AUTS2 localizes to nuclei of neurons and select progenitors in developing brain, with enrichment in cortex, hippocampus, and cerebellum.

    Evidence Immunohistochemistry, in situ hybridization, and western blotting on developing mouse brain sections

    PMID:19948250

    Open questions at the time
    • No functional consequence demonstrated from localization alone
    • Cytoplasmic pools not yet recognized
    • Binding partners unknown
  2. 2013 Medium

    Loss-of-function studies in zebrafish and Drosophila established that AUTS2 is required for brain size, neuronal number, and behavior across species, demonstrating an evolutionarily conserved neurodevelopmental function.

    Evidence Zebrafish morpholino knockdown with isoform-specific rescue; Drosophila ortholog knockdown with behavioral assays; enhancer reporter assays

    PMID:21471458 PMID:23332918 PMID:23349641

    Open questions at the time
    • Morpholino off-target effects not fully excluded
    • Downstream molecular targets unidentified
    • Mammalian loss-of-function not yet performed
  3. 2014 High

    Two parallel studies revealed AUTS2's dual compartment functions: genome-wide ChIP-seq showed nuclear AUTS2 binds promoters of active neurodevelopmental genes, while subcellular fractionation and GTPase assays showed cytoplasmic AUTS2 regulates Rac1/Cdc42 in growth cones to control neuronal migration and neuritogenesis.

    Evidence ChIP-seq and RNA-seq on E16.5 mouse forebrains with enhancer validation; immunohistochemistry, subcellular fractionation, Rho GTPase assays, and rescue experiments in developing mouse brain

    PMID:25180570 PMID:25533347

    Open questions at the time
    • Mechanism by which nuclear AUTS2 activates transcription unknown
    • Identity of the nuclear complex uncharacterized
    • How cytoplasmic versus nuclear partitioning is regulated unclear
  4. 2018 High

    Identification of WDR68 as an integral PRC1-AUTS2 complex component required for transcriptional activation and neuronal differentiation revealed the first essential cofactor of the nuclear activating mechanism.

    Evidence Co-immunoprecipitation, Wdr68 deletion in mouse ESCs, transcriptomics, neuronal differentiation assays

    PMID:30448639

    Open questions at the time
    • Direct biochemical role of WDR68 within the complex unknown
    • Whether WDR68 functions outside PRC1-AUTS2 in this context not tested
  5. 2019 High

    Discovery that long and short AUTS2 isoforms have opposing transcriptional activities — repression versus activation — and that PCGF3 expression modulates this switch explained how a single gene can both activate and repress targets during neuronal differentiation.

    Evidence Yeast two-hybrid screen, reporter assays, mouse ESC corticogenesis with heterozygous Auts2 mutations, isoform overexpression

    PMID:30953002

    Open questions at the time
    • Structural basis of isoform-specific transcriptional polarity unknown
    • How the isoform switch is regulated during differentiation not defined
    • Chromatin-level mechanism of repression by long isoform not mapped
  6. 2020 High

    Conditional knockout studies established postnatal AUTS2 functions: loss increased excitatory synapses and disrupted excitation/inhibition balance causing autistic-like behaviors, and in cerebellum caused Purkinje cell immaturity and impaired synapse elimination, connecting AUTS2 to circuit-level pathology.

    Evidence Conditional knockout mice, electrophysiology, immunostaining, behavioral assays, Cacna1a expression analysis

    PMID:32498016 PMID:33305180

    Open questions at the time
    • Molecular mechanism by which AUTS2 limits excitatory synapse number unknown
    • Whether synaptic phenotype is cell-autonomous not resolved
    • Direct transcriptional targets mediating synapse control not identified
  7. 2021 High

    The P300-recruiting mechanism was solved: AUTS2 interacts with P300 through its HX repeat domain within ncPRC1.3/ncPRC1.5, and NRF1 is required for chromatin recruitment, explaining how Polycomb complexes are converted from repressors to activators; separately, proteomics and RIP-seq revealed AUTS2 associates with RNA-binding proteins and directly binds RNA transcripts.

    Evidence Co-IP, HX domain mutagenesis, NRF1 functional studies, ESC motor neuron differentiation; mass spectrometry of AUTS2 complexes, RIP-seq from neonatal cortex, exon 15 conditional KO

    PMID:34013328 PMID:34637754

    Open questions at the time
    • Functional consequence of AUTS2-RNA binding not established
    • Whether RNA binding is independent of chromatin function unknown
    • Structural basis of HX repeat–P300 interaction not determined
  8. 2022 High

    Three studies expanded AUTS2's mechanistic repertoire: discovery of the PRC1-independent AWS complex (AUTS2-WDR68-SKI) that degrades phospho-SMAD1/5/9 via CUL4 to inhibit BMP signaling; identification of AUTS2 as a transcription repressor controlling postnatal dentate gyrus migration; and linking AUTS2 loss to metabolic disruption including oxidative stress and SIRT1/SIRT3 axis inhibition.

    Evidence Complex purification, ubiquitination assays, BMP luciferase reporters; Auts2 KO mice with chemogenetic/optogenetic/pharmacological rescue; conditional KO with metabolic and ROS assays

    PMID:35235353 PMID:36258139 PMID:36525998

    Open questions at the time
    • Whether AWS complex operates independently in all neuronal subtypes unknown
    • Direct targets of AUTS2-mediated transcriptional repression in DG incompletely catalogued
    • Whether metabolic phenotype is direct or secondary to differentiation defect unclear
  9. 2024 High

    Human organoid and patient-derived models established that AUTS2 negatively regulates WNT/β-catenin signaling, controls NPC proliferation and polarity, and that a pathogenic AUTS2 missense variant impairs these processes — effects rescued by CRISPR correction or WNT inhibition — providing direct human disease-relevant mechanistic evidence.

    Evidence CRISPR KO and correction in human ESC-derived cerebral organoids, scRNA-seq, WNT luciferase reporters, WNT inhibitor rescue; patient-derived organoids with variant correction

    PMID:35802027 PMID:39013538 PMID:39174599

    Open questions at the time
    • Whether WNT regulation is direct or mediated through transcriptional targets unclear
    • Specific WNT pathway component directly engaged by AUTS2 not identified
    • Genotype-phenotype correlation across different AUTS2 variants incomplete
  10. 2025 High

    AUTS2 was shown to cooperate with PRC2 to maintain H3K27me3-mediated repression of Robo1 in intermediate progenitor cells, controlling IPC division and upper-layer neuron production — revealing a repressive Polycomb partnership distinct from the activating ncPRC1 role.

    Evidence Auts2 mutant mice, H3K27me3 ChIP, co-IP of AUTS2-PRC2, transcriptomics, Robo1 rescue

    PMID:39815005

    Open questions at the time
    • Whether AUTS2-PRC2 cooperation is direct or bridged by intermediary factors unclear
    • How AUTS2 switches between PRC1-activating and PRC2-repressive modes not explained
    • Whether this mechanism operates outside cortical IPCs unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include: how AUTS2 partitions between nuclear and cytoplasmic compartments, the structural basis of its interactions with P300 and PRC2, the functional significance of its direct RNA binding, and how its activating versus repressive transcriptional roles are coordinately regulated across cell types and developmental stages.
  • No structural model of AUTS2 or its complexes exists
  • Regulatory logic governing isoform switching and compartmental partitioning undefined
  • Functional role of AUTS2-RNA binding not established beyond correlation

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 6 GO:0098772 molecular function regulator activity 4 GO:0003677 DNA binding 2 GO:0003723 RNA binding 1
Localization
GO:0005634 nucleus 4 GO:0005829 cytosol 1
Pathway
R-HSA-1266738 Developmental Biology 8 R-HSA-74160 Gene expression (Transcription) 5 R-HSA-162582 Signal Transduction 4 R-HSA-112316 Neuronal System 3 R-HSA-4839726 Chromatin organization 3
Partners
EP300NRF1PCGF3PCGF5RAC1SF3B1SKIWDR68
Complex memberships
AWS complex (AUTS2-WDR68-SKI)ncPRC1.3ncPRC1.5

Evidence

Reading pass · 24 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2014 Cytoplasmic AUTS2 localizes in growth cones of the developing brain and activates Rac1 to induce lamellipodia while downregulating Cdc42 to suppress filopodia, thereby regulating cortical neuronal migration and neuritogenesis via a cytoplasmic AUTS2-Rac1 pathway. Immunohistochemistry, subcellular fractionation, loss-of-function and rescue experiments in developing mouse brain, Rho GTPase activity assays Cell reports High 25533347
2014 Genome-wide ChIP-seq in mouse embryonic day 16.5 forebrains shows Auts2 predominantly binds promoters of highly expressed neurodevelopmental genes, acting as a transcriptional activator; non-promoter Auts2-bound regions overlap developing brain enhancer marks near ASD-implicated genes including NRXN1 and ATP2B2. ChIP-seq and RNA-seq on mouse E16.5 forebrains; functional enhancer validation in zebrafish and mice Translational psychiatry High 25180570
2019 AUTS2 isoforms differentially regulate transcription and neuronal differentiation: the long isoform interacts with polycomb proteins PCGF3 and PCGF5 (identified by yeast two-hybrid), while both isoforms interact with splicing factor SF3B1. The first exons of the long isoform function as a transcriptional repressor, while the short isoform region acts as a transcriptional activator. PCGF3 expression levels modulate whether the long isoform activates or represses transcription. A shift from long to short isoform expression accompanies initiation of neuronal differentiation. Yeast two-hybrid screen, reporter assays, mouse embryonic stem cell corticogenesis with heterozygous Auts2 mutations, overexpression of human AUTS2 transcripts, truncation mouse ESC models Molecular psychiatry High 30953002
2021 AUTS2 forms part of non-canonical PRC1 complexes (ncPRC1.3 and ncPRC1.5) that activate rather than repress transcription; AUTS2 interacts with P300 through its HX repeat domain, and mutations in this domain disrupt the AUTS2-P300 interaction. Nuclear respiratory factor 1 (NRF1) is required for ncPRC1.3 recruitment to chromatin, and absence of AUTS2 or HX domain mutation causes misregulation of developmental genes and impaired motor neuron differentiation of mouse embryonic stem cells. Co-immunoprecipitation of AUTS2-P300 interaction, HX repeat domain mutagenesis, NRF1 functional studies, mouse ESC neuronal differentiation assays, chromatin recruitment assays Molecular cell High 34637754
2018 WDR68 is an integral component of the PRC1-AUTS2 complex and is required for PRC1-AUTS2-mediated transcriptional activation; deletion of Wdr68 in mouse ESCs leads to defects in neuronal differentiation and downregulation of neuronal differentiation genes that are targets of the PRC1-AUTS2 complex. Co-immunoprecipitation, Wdr68 deletion in mouse ESCs, transcriptomic analysis of neural progenitors, neuronal differentiation assays Stem cell research High 30448639
2022 AUTS2 forms a novel PRC1-independent complex with WDR68 and SKI (the AWS complex) specifically in neuronal progenitors; this complex promotes neuronal differentiation by recruiting the CUL4 E3 ubiquitin ligase complex to mediate poly-ubiquitination and proteasomal degradation of phosphorylated SMAD1/5/9, thereby inhibiting BMP signaling. Protein complex purification, co-immunoprecipitation, ubiquitination assays, proteasomal degradation assays, BMP pathway luciferase reporters, primary cortical neuron knockdown Stem cell reviews and reports High 36258139
2020 AUTS2 regulates excitatory synapse number in neurons; Auts2-deficient primary cultured neurons and mutant forebrains show specifically increased excitatory synapses, increased excitatory synaptic inputs, enhanced c-fos expression, and an altered excitation/inhibition balance, leading to autistic-like behaviors including impaired social interaction and altered vocal communication in mice. Conditional knockout mice, electrophysiology, immunostaining, c-fos immunostaining, behavioral assays iScience High 32498016
2020 AUTS2 is specifically localized in Purkinje cells and Golgi cells in the postnatal cerebellum; Auts2 conditional knockout causes smaller, deformed cerebella with immature Purkinje cells, reduced Cacna1a expression, impaired elimination and translocation of climbing fiber synapses, restriction defects in parallel fiber synapse numbers, and behavioral impairments in motor learning and vocal communication. Conditional knockout (cKO) mice, immunostaining, electrophysiology, behavioral assays, Cacna1a expression analysis iScience High 33305180
2021 AUTS2 associates with multiple RNA-binding and RNA-metabolism proteins in neonatal mouse cerebral cortex (identified by proteomics), and AUTS2-containing protein complexes bind specific RNA transcripts (identified by RNA immunoprecipitation and sequencing). Deletion of all major AUTS2 isoforms by conditional excision of exon 15 caused breathing abnormalities, neonatal lethality, dentate gyrus hypoplasia with agenesis of hilar mossy neurons, abnormal EEG spiking, and dysregulation of AUTS2-associated RNA transcripts. Proteomics (mass spectrometry) of AUTS2 complexes from cortical tissue, RNA immunoprecipitation and sequencing (RIP-seq), conditional knockout mice (exon 15 excision), EEG, histology Cerebral cortex High 34013328
2022 Auts2 deletion causes postnatal dentate gyrus (DG) hypoplasia by acting as a transcription repressor to regulate neural cell migration in postnatal DG development; this DG hypoplasia disrupts the SuM-DG-CA3 neural circuit and causes social recognition deficit, which can be rescued by pharmacological correction of DG-CA3 synaptic transmission or chemo/optogenetic activation of the SuM-DG circuit. Auts2 knockout mice, histology, transcription repressor functional analysis, chemogenetics, optogenetics, pharmacological rescue Science advances High 35235353
2025 AUTS2 cooperates with PRC2 to repress transcription of target genes (including Robo1) in intermediate progenitor cells (IPCs) by maintaining H3K27me3 at their transcriptional start sites; loss of AUTS2 reduces H3K27me3, increases Robo1 expression, suppresses IPC division, reduces upper-layer neurons, and causes microcephaly in mice. Auts2 mutant mice, transcriptomic analysis, chromatin profiling (H3K27me3 ChIP), co-immunoprecipitation of AUTS2-PRC2 interaction, Robo1 rescue experiments, histology The EMBO journal High 39815005
2024 AUTS2 negatively regulates the WNT/β-catenin signaling pathway; AUTS2-deficient human cerebral organoids show overactivation of WNT/β-catenin signaling (confirmed by luciferase reporter assays), reduced neuronal lineage cells, overabundance of choroid plexus-like cells, and treatment with a WNT inhibitor reverses these effects. CRISPR/Cas9 AUTS2-deficient human ESCs, 3D cerebral organoids, transcriptomic analysis (single-cell RNA-seq), WNT/β-catenin luciferase reporter assays, WNT inhibitor rescue Scientific reports High 39174599
2023 An AUTS2 missense variant causes deficits in neural progenitor cell (NPC) proliferation and disrupted NPC polarity within ventricular zone-like regions in human cerebral organoids; single-cell RNA-seq revealed reduced G1/S transition gene expression and alterations in WNT-β-catenin signaling in proband NPCs. CRISPR-Cas9 correction of the variant rescued organoid growth and NPC proliferative deficits. Patient-derived cerebral organoids, CRISPR-Cas9 correction, single-cell RNA-seq, immunostaining of NPC polarity markers Brain High 35802027
2009 Auts2 protein localizes to the nuclei of neurons and some neuronal progenitors in the developing mouse brain, with highest expression in frontal cortex, hippocampus, cerebellum (including Purkinje cells), dorsal thalamus, olfactory bulb, inferior colliculus, and substantia nigra; it co-localizes with Tbr1, a transcription factor specific for postmitotic projection neurons. In situ hybridization, immunohistochemistry, western blotting on developing mouse brain sections Gene expression patterns Medium 19948250
2013 Knockdown of auts2 in zebrafish leads to smaller head size, neuronal reduction, and decreased mobility, demonstrating a role in neurodevelopment; 23 functional zebrafish enhancers of AUTS2 were identified, 10 active in brain, and three mouse brain enhancers overlapping ASD-associated deletions were characterized. Zebrafish morpholino knockdown, enhancer reporter assays in zebrafish and mice, behavioral assays PLoS genetics Medium 23349641
2013 Suppression of the AUTS2 homolog in Drosophila caused reduced alcohol sensitivity, establishing a conserved role for AUTS2 in alcohol response behavior. Drosophila loss-of-function (knockdown of AUTS2 homolog), alcohol sensitivity behavioral assay Proceedings of the National Academy of Sciences Medium 21471458
2013 Suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the C-terminal isoform of AUTS2, establishing causal roles for both isoforms in neurodevelopment. Zebrafish morpholino knockdown, rescue with full-length and C-terminal AUTS2 isoform mRNA injection American journal of human genetics Medium 23332918
2017 Repeated cocaine administration specifically increases Auts2 gene expression in D2-type medium spiny neurons of the nucleus accumbens; chromosomal looping connecting Auts2 to the Caln1 locus is disrupted after cocaine exposure, associated with reduced CTCF binding and increased histone and DNA methylation. Cell type-specific overexpression of Auts2 in D2-type MSNs promotes cocaine reward. Chromosome conformation capture (3C/4C), FACS, viral-mediated cell type-specific overexpression in Cre-dependent mouse lines, CTCF ChIP, behavioral cocaine reward assays Biological psychiatry Medium 28577753
2016 AUTS2 in the nucleus accumbens (but not caudate-putamen) suppresses heroin-induced locomotor sensitization; lentiviral shRNA knockdown of AUTS2 in NAc enhanced sensitization while overexpression attenuated it. Chronic heroin decreased AUTS2 mRNA and protein in NAc. Lentiviral shRNA knockdown, viral overexpression, heroin locomotor sensitization behavioral assay in mice Neuroscience Medium 27423627
2024 AUTS2 long isoform (AUTS2-l) ablation in Calbindin 1-expressing cell lineages is sufficient to produce learning/memory deficits and hyperactivity with abnormal dentate gyrus granule cell maturation, identifying these cells as key mediators of specific AUTS2-l-dependent phenotypes; hundreds of putative direct AUTS2-l target genes were identified. Isoform-specific conditional knockout mice (AUTS2-l ablation), Calbindin 1-Cre targeted ablation, behavioral assays, histology, postnatal brain gene expression analysis Genetics Medium 37816306
2022 Auts2 knockdown in Emx1-expressing neurons reduces brain glucose uptake, inhibits the pentose phosphate pathway, increases reactive oxygen species and oxidative stress markers, disrupts mitochondrial homeostasis, and inhibits the SIRT1-SIRT3 axis, in addition to causing ASD-like social and repetitive behaviors. Conditional knockout mice (Auts2flox/flox; Emx1Cre+), metabolic pathway analysis, ROS measurement, mitochondrial assays, SIRT1/SIRT3 activity assays, behavioral assays Experimental neurology Medium 36525998
2025 AUTS2 directly binds RNA in human neural progenitor cells (mapped by eCLIP-seq) in addition to chromatin (ChIP-seq); AUTS2 knockdown impairs NPC proliferation, migration, and neurite outgrowth, and downregulates Wnt pathway genes including WNT7A at both chromatin and RNA levels. Supplementation with WNT7A rescues cellular phenotypes in AUTS2-deficient NPCs. ChIP-seq, eCLIP-seq in human NPCs, AUTS2 knockdown, WNT7A rescue experiments, cell proliferation/migration/neurite assays bioRxivpreprint Medium 41278797
2024 AUTS2 is expressed in neural progenitor cells at the peak of neurogenesis; upregulation of AUTS2 in cortical progenitors by in utero electroporation increases basal progenitors and neurons and alters expression of hundreds of genes, demonstrating a role in fate determination of neural progenitor cells. In utero electroporation (gain-of-function), immunofluorescence, cell tracing and sorting, transcriptomic profiling in mouse cortex Journal of advanced research Medium 39013538
2016 AUTS2 activates transcription of NKL homeobox gene MSX1 when part of PRC1 subtype 5 (PRC1.5) in T-ALL cells, converting this Polycomb complex from a repressor to an activator; PCGF5 represses MSX1 transcription, while EZH2/PRC2 also represses MSX1 via H3K27me3. Expression profiling, forced expression, pharmacological EZH2 inhibition, H3K27me3 chromatin analysis in T-ALL cell lines Oncotarget Low 27322685

Source papers

Stage 0 corpus · 74 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. Proceedings of the National Academy of Sciences of the United States of America 214 21471458
2013 Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American journal of human genetics 143 23332918
2013 Function and regulation of AUTS2, a gene implicated in autism and human evolution. PLoS genetics 127 23349641
2013 The role of AUTS2 in neurodevelopment and human evolution. Trends in genetics : TIG 109 24008202
2014 Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis. Cell reports 107 25533347
2009 Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology. Gene expression patterns : GEP 101 19948250
2007 Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Human genetics 100 17211639
2016 A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Journal of medical genetics 55 27075013
2012 Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. European journal of human genetics : EJHG 52 22872102
2017 Neuronal Migration and AUTS2 Syndrome. Brain sciences 51 28505103
2023 Cerebral organoids containing an AUTS2 missense variant model microcephaly. Brain : a journal of neurology 49 35802027
2017 Cocaine-Induced Chromatin Modifications Associate With Increased Expression and Three-Dimensional Looping of Auts2. Biological psychiatry 47 28577753
2014 Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Translational psychiatry 47 25180570
2021 NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Molecular cell 43 34637754
2021 AUTS2 Gene: Keys to Understanding the Pathogenesis of Neurodevelopmental Disorders. Cells 43 35011572
2019 AUTS2 isoforms control neuronal differentiation. Molecular psychiatry 43 30953002
2022 AUTS2 Syndrome: Molecular Mechanisms and Model Systems. Frontiers in molecular neuroscience 42 35431798
2020 AUTS2 Regulation of Synapses for Proper Synaptic Inputs and Social Communication. iScience 40 32498016
2014 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. American journal of medical genetics. Part A 39 24459036
2020 AUTS2 Governs Cerebellar Development, Purkinje Cell Maturation, Motor Function and Social Communication. iScience 36 33305180
2021 Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation. Genes 31 34573342
2015 De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review. American journal of medical genetics. Part A 31 25851617
2014 Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. European journal of human genetics : EJHG 31 25205402
2014 Association study identifying a new susceptibility gene (AUTS2) for schizophrenia. International journal of molecular sciences 31 25347278
2022 Auts2 deletion involves in DG hypoplasia and social recognition deficit: The developmental and neural circuit mechanisms. Science advances 26 35235353
2012 Genetic analysis of AUTS2 as a susceptibility gene of heroin dependence. Drug and alcohol dependence 25 22995765
2012 PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia. Leukemia research 24 22578776
2018 WDR68 is essential for the transcriptional activation of the PRC1-AUTS2 complex and neuronal differentiation of mouse embryonic stem cells. Stem cell research 21 30448639
2021 AUTS2 Regulates RNA Metabolism and Dentate Gyrus Development in Mice. Cerebral cortex (New York, N.Y. : 1991) 17 34013328
2016 Deregulation of polycomb repressor complex 1 modifier AUTS2 in T-cell leukemia. Oncotarget 16 27322685
2021 Untangle the Multi-Facet Functions of Auts2 as an Entry Point to Understand Neurodevelopmental Disorders. Frontiers in psychiatry 15 33967843
2014 The evidence for the contribution of the autism susceptibility candidate 2 (AUTS2) gene in heroin dependence susceptibility. Journal of molecular neuroscience : MN 15 25398668
2013 Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene. PloS one 15 23437340
2017 Transcriptional Complexity and Distinct Expression Patterns of auts2 Paralogs in Danio rerio. G3 (Bethesda, Md.) 13 28626003
2015 Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability. American journal of medical genetics. Part A 12 26545289
2021 Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies. Genes 11 33562463
2019 A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome. G3 (Bethesda, Md.) 11 31554716
2022 AUTS2 Controls Neuronal Lineage Choice Through a Novel PRC1-Independent Complex and BMP Inhibition. Stem cell reviews and reports 10 36258139
2021 Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome. Frontiers in cell and developmental biology 10 34805182
2018 Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population. Journal of cellular and molecular medicine 10 29377512
2015 Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder. American journal of medical genetics. Part A 10 26333717
2019 A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2. Clinical case reports 9 31788251
2020 Ancestry of the AUTS2 family-A novel group of polycomb-complex proteins involved in human neurological disease. PloS one 8 33306672
2024 De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature. Genes 7 39062605
2022 Auts2 regulated autism-like behavior, glucose metabolism and oxidative stress in mice. Experimental neurology 7 36525998
2024 AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/β-catenin pathway. Scientific reports 6 39174599
2021 High Behavioral Variability Mediated by Altered Neuronal Excitability in auts2 Mutant Zebrafish. eNeuro 6 34544758
2020 De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. American journal of medical genetics. Part A 6 33346930
2015 AUTS2 is a potential therapeutic target for pancreatic cancer patients with liver metastases. Medical hypotheses 6 25962312
2020 Effect of AUTS2 gene rs6943555 variant in male patients with schizophrenia in a Turkish population. Gene 5 32574757
2016 AUTS2 in the nucleus accumbens is essential for heroin-induced behavioral sensitization. Neuroscience 5 27423627
2019 Recurrent intragenic exon rearrangements of SOBP and AUTS2 in non-Hodgkin B-cell lymphoma. International journal of hematology 4 31686349
2016 Association between AUTS2 haplotypes and alcohol dependence in a Japanese population. Acta neuropsychiatrica 4 26763194
2024 Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies. Genetics 3 37816306
2022 Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene. Journal of applied genetics 3 35525889
2022 Two variants of AUTS2 gene are associated with high lean meat percentage in Pekin ducks. Gene 3 36067863
2021 Germ cell mosaicism for AUTS2 exon 6 deletion. American journal of medical genetics. Part A 3 33577136
2019 Generation of an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830 kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene. Stem cell research 3 31505389
2023 Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene. Nucleic acids research 2 36864756
2022 auts2 Features and Expression Are Highly Conserved during Evolution Despite Different Evolutionary Fates Following Whole Genome Duplication. Cells 2 36078102
2021 Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review. BMC psychiatry 2 34273950
2025 The microcephaly-associated transcriptional regulator AUTS2 cooperates with Polycomb complex PRC2 to produce upper-layer neurons in mice. The EMBO journal 1 39815005
2025 Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype. American journal of medical genetics. Part A 1 40317680
2025 AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases. Journal of medical genetics 1 40670150
2025 Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing. Biochemical genetics 1 40819013
2023 Activity-Dependent Differential Regulation of Auts2 Isoforms In Vitro and In Vivo. Molecular neurobiology 1 36754912
2023 Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin -lineage cells, generates a specific suite of brain, behavioral and molecular pathologies. bioRxiv : the preprint server for biology 1 37205596
2026 Base editing in the AUTS2 gene and high-throughput NGS genotyping of clones: a strategy for generating a cellular model. Vavilovskii zhurnal genetiki i selektsii 0 41958697
2025 Parent-of-origin regulation by maternal auts2 shapes neurodevelopment and behavior in fish. Genome biology 0 40346605
2025 Human AUTS2 regulates neurodevelopmental pathways via dual DNA/RNA binding. bioRxiv : the preprint server for biology 0 41278797
2024 Auts2 enhances neurogenesis and promotes expansion of the cerebral cortex. Journal of advanced research 0 39013538
2024 Establishment of a non-integrated iPS cell line (SDQLCHi072-A) from a patient suffered from AUTS2 syndrome. Stem cell research 0 39276529
2023 Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene. Stem cell research 0 37948839
2017 No Association between the Polymorphism rs6943555 in the AUTS2 Gene and Personality Traits in Japanese University Students. Psychiatry investigation 0 29042895