Affinage

AUTS2

Autism susceptibility gene 2 protein · UniProt Q8WXX7

Length
1259 aa
Mass
139.0 kDa
Annotated
2026-06-09
74 papers in source corpus 22 papers cited in narrative 22 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

AUTS2 is a multifunctional neurodevelopmental regulator that acts in both the nucleus and cytoplasm to control neuronal differentiation, migration, and circuit formation (PMID:25533347, PMID:19948250). In the nucleus, AUTS2 is a context-dependent transcriptional switch within Polycomb machinery: as a component of non-canonical PRC1 complexes (ncPRC1.3/ncPRC1.5), its HX repeat domain recruits the histone acetyltransferase P300 to convert Polycomb repression into activation of neurodevelopmental genes, with NRF1 directing complex recruitment to chromatin and patient HX-domain mutations disrupting the P300 interaction and gene regulation (PMID:34637754, PMID:19948250); conversely, AUTS2 also cooperates with PRC2 to deposit H3K27me3 and repress targets such as Robo1, promoting intermediate progenitor division and cortical neuron output (PMID:39815005). Its activity is isoform-dependent, with long and short isoforms exerting opposing repressive versus activating effects and engaging distinct partners including SF3B1 and PCGF3/PCGF5 (PMID:30953002). Beyond canonical Polycomb roles, AUTS2 forms an AWS complex with WDR68 and SKI that recruits the CUL4 ubiquitin ligase to degrade phosphorylated SMAD1/5/9 and suppress BMP signaling (PMID:36258139), and it directly binds both chromatin and RNA in neural progenitors to regulate WNT pathway genes including WNT7A, whose supplementation rescues proliferation, migration, and neurite outgrowth defects (PMID:41278797, PMID:39174599). In the cytoplasm, AUTS2 activates Rac1 and downregulates Cdc42 to remodel the actin cytoskeleton during cortical neuronal migration and neuritogenesis (PMID:25533347). Functionally, AUTS2 controls neural progenitor proliferation and lineage commitment, restrains excitatory synapse number to maintain E/I balance, and is required for Purkinje cell maturation and dentate gyrus development underlying social recognition and motor learning (PMID:32498016, PMID:33305180, PMID:35235353, PMID:35802027). Exonic deletions and missense variants of AUTS2 cause syndromic intellectual disability and autism-like phenotypes (PMID:23332918, PMID:35802027).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2009 Medium

    Establishing where AUTS2 protein resides and which cells express it was the first step toward assigning function, showing it is a nuclear protein enriched in developing forebrain, cerebellum, and postmitotic projection neurons.

    Evidence Immunohistochemistry, in situ hybridization, and western blotting in developing mouse brain with Tbr1 co-localization

    PMID:19948250

    Open questions at the time
    • No molecular function assigned
    • Nuclear-only view incomplete given later cytoplasmic findings
  2. 2013 Medium

    Linking AUTS2 dosage to brain size and patient disease established it as a causal neurodevelopmental gene and defined functional isoforms plus distant enhancers.

    Evidence Zebrafish morpholino knockdown with human isoform rescue, patient exonic deletion analysis, and enhancer transgenic assays

    PMID:23332918 PMID:23349641

    Open questions at the time
    • Molecular mechanism of microcephaly not resolved
    • Isoform-specific molecular activities undefined
  3. 2014 High

    Two studies split AUTS2 function across compartments: a cytoplasmic Rac1/Cdc42 actin-regulatory role in migration/neuritogenesis, and a nuclear promoter/enhancer-binding role in transcriptional activation.

    Evidence Subcellular fractionation, Rho GTPase activity assays, rescue in developing brain; ChIP-seq/RNA-seq in mouse forebrain with enhancer assays

    PMID:25180570 PMID:25533347

    Open questions at the time
    • Mechanism coupling cytoplasmic and nuclear pools unknown
    • Direct GEF/GAP partners for Rac1/Cdc42 control not identified
  4. 2016 Medium

    AUTS2 was placed inside non-canonical PRC1 as a converter of Polycomb repression to activation, and shown to be regulated in addiction circuitry, broadening its functional context.

    Evidence Transcriptional and H3K27me3 assays in T-ALL; lentiviral knockdown/overexpression in mouse nucleus accumbens with locomotor behavior

    PMID:27322685 PMID:27423627

    Open questions at the time
    • PRC1.5 mechanism in T-ALL was indirect
    • Generalizability of activator role beyond leukemia unclear at this stage
  5. 2018 Medium

    Defining WDR68 as an integral subunit of the PRC1-AUTS2 complex showed the complex requires specific cofactors for transcriptional activation and neuronal differentiation.

    Evidence Reciprocal Co-IP and Wdr68 knockout in mouse ESCs with RNA-seq

    PMID:30448639

    Open questions at the time
    • WDR68 contribution to activation mechanism not mechanistically dissected
    • Single-lab finding
  6. 2019 Medium

    Isoform-resolved interactome and reporter analysis explained how AUTS2 can be both repressor and activator: long-isoform first exons repress while the short region activates, with PCGF3 tuning the balance.

    Evidence Yeast two-hybrid screen, reporter transcription assays, and truncated-AUTS2 mouse ESC experiments

    PMID:30953002

    Open questions at the time
    • In vivo relevance of SF3B1 interaction not established
    • How PCGF3 levels are physiologically set is unknown
  7. 2020 High

    Conditional knockouts revealed concrete postnatal functions: restraint of excitatory synapse number for E/I balance and requirement for Purkinje cell maturation and cerebellar synapse refinement.

    Evidence Conditional KO mice with electrophysiology, immunostaining, c-fos analysis, and behavioral assays

    PMID:32498016 PMID:33305180

    Open questions at the time
    • Molecular targets driving synaptic and Purkinje phenotypes not fully mapped
    • Link between transcriptional role and synaptic phenotypes incomplete
  8. 2021 High

    AUTS2 was shown to be an RNA-associated regulator and an HX-domain-dependent P300 recruiter, integrating a direct RNA-binding role with the ncPRC1.3/1.5 activation mechanism validated by patient variants.

    Evidence Proteomics and RIP-seq from cortex with conditional KO phenotyping; Co-IP, ChIP, ESC differentiation, and patient variant biochemistry

    PMID:34013328 PMID:34637754

    Open questions at the time
    • Whether AUTS2 binds RNA directly versus via partners not resolved here
    • Functional consequence of RNA binding undefined
  9. 2022 Medium

    Two studies expanded AUTS2's reach beyond Polycomb: a PRC1-independent AWS complex degrading phospho-SMAD1/5/9 to suppress BMP signaling, and a dentate gyrus circuit mechanism underlying social recognition.

    Evidence Co-IP and ubiquitination assays in neuronal progenitors; conditional KO with circuit tracing, optogenetic, chemogenetic, and pharmacological rescue

    PMID:35235353 PMID:36258139

    Open questions at the time
    • AWS complex stoichiometry and CUL4 recruitment mechanism not detailed
    • Direct molecular cause of DG hypoplasia within the cell not pinpointed
  10. 2023 High

    A human cerebral organoid model with CRISPR correction tied an AUTS2 missense variant causally to NPC proliferation/polarity defects and implicated WNT-β-catenin and cell-cycle dysregulation.

    Evidence Patient-derived cerebral organoids with CRISPR-Cas9 rescue and single-cell RNA-seq

    PMID:35802027

    Open questions at the time
    • Direct molecular link between AUTS2 and WNT regulation not established here
    • Single variant studied
  11. 2024 Medium

    Isoform- and lineage-specific mouse genetics plus human organoid knockouts converged on AUTS2 as a negative regulator of WNT/β-catenin that promotes neuronal lineage commitment over choroid plexus fate and controls progenitor and dentate gyrus output.

    Evidence In utero electroporation, Calbindin1-lineage and isoform-specific conditional KO mice; CRISPR KO human organoids with luciferase reporters and WNT inhibitor rescue

    PMID:37816306 PMID:39013538 PMID:39174599

    Open questions at the time
    • Mechanism by which AUTS2 represses WNT signaling not defined
    • Reconciliation of long- vs short-isoform contributions incomplete
  12. 2025 High

    AUTS2 was shown to cooperate with PRC2 to deposit H3K27me3 and repress Robo1 for intermediate progenitor division, and to directly bind RNA via eCLIP defining a chromatin-plus-RNA WNT7A regulatory axis.

    Evidence Auts2 mutant mice with H3K27me3 ChIP and Robo1 rescue; eCLIP-seq, ChIP-seq, and WNT7A rescue in human NPCs (one preprint)

    PMID:39815005 PMID:41278797

    Open questions at the time
    • How AUTS2 partitions between PRC1-activating and PRC2-repressing roles is unresolved
    • eCLIP RNA-binding finding is from a preprint

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unknown how AUTS2 is mechanistically partitioned between its cytoplasmic Rac1/actin role and its multiple, sometimes opposing nuclear roles (ncPRC1 activation, PRC2 repression, AWS/BMP, WNT suppression, RNA binding), and what determines which output dominates in a given cell type.
  • No unifying model coupling compartment, isoform, and complex choice
  • Direct structural basis of partner selection unknown
  • Causal hierarchy among WNT, BMP, and Polycomb effects not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 5 GO:0003677 DNA binding 3 GO:0003723 RNA binding 2 GO:0060090 molecular adaptor activity 2 GO:0098772 molecular function regulator activity 2
Localization
GO:0005634 nucleus 3 GO:0005654 nucleoplasm 2 GO:0005829 cytosol 1
Pathway
R-HSA-1266738 Developmental Biology 4 R-HSA-112316 Neuronal System 3 R-HSA-162582 Signal Transduction 3 R-HSA-4839726 Chromatin organization 3 R-HSA-74160 Gene expression (Transcription) 3
Partners
NRF1P300PCGF3PCGF5RAC1SF3B1SKIWDR68
Complex memberships
AWS complex (AUTS2-WDR68-SKI)PRC2ncPRC1.3/ncPRC1.5 (non-canonical PRC1)

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2014 Cytoplasmic AUTS2 localizes not only in nuclei but also in the cytoplasm including growth cones of developing neurons (shown by immunohistochemistry and fractionation). Cytoplasmic AUTS2 activates Rac1 to induce lamellipodia but downregulates Cdc42 to suppress filopodia. Loss-of-function and rescue experiments showed that a cytoplasmic AUTS2-Rac1 pathway is required for cortical neuronal migration and neuritogenesis in the developing brain. Immunohistochemistry, subcellular fractionation, loss-of-function and rescue experiments in developing brain, Rho GTPase activity assays Cell reports High 25533347
2021 AUTS2 is a component of non-canonical PRC1 complexes (ncPRC1.3 and ncPRC1.5) that convert Polycomb repressive function to transcriptional activation. The HX repeat domain of AUTS2 is required for interaction with P300 (histone acetyltransferase). Mutations in the HX repeat domain disrupt the AUTS2-P300 interaction and cause misregulation of developmental genes. The transcription factor NRF1 is required for ncPRC1.3 recruitment to chromatin and plays an integral role in this neurodevelopmental transcriptional activation program. Loss of AUTS2 or mutation in its HX repeat domain curtails motor neuron differentiation of mouse embryonic stem cells. Co-immunoprecipitation, genomic/chromatin analyses, mouse embryonic stem cell differentiation assays, patient variant characterization, ChIP 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 embryonic stem cells causes defects in neuronal differentiation without affecting self-renewal, and downregulates many PRC1-AUTS2 target neuronal differentiation genes. Co-immunoprecipitation, mouse embryonic stem cell knockout, transcriptomic analysis (RNA-seq) Stem cell research Medium 30448639
2019 AUTS2 protein isoforms differ in their interactions and transcriptional activities. Yeast two-hybrid screen identified splicing factor SF3B1 as an interactor of both long and short isoforms; Polycomb group proteins PCGF3 and PCGF5 interact exclusively with the long AUTS2 isoform. The first exons of the long AUTS2 isoform function as a transcriptional repressor, while the region constituting the short isoform acts as a transcriptional activator. PCGF3 expression levels influence the long AUTS2 isoform's ability to activate or repress transcription. Mouse ESCs with truncated AUTS2 (missing exons 12-20) show premature neuronal differentiation. Yeast two-hybrid screen, reporter transcription assays, mouse embryonic stem cell loss-of-function experiments Molecular psychiatry Medium 30953002
2014 Genome-wide ChIP-seq in mouse embryonic day 16.5 forebrains showed that Auts2 binds predominantly to promoters of genes highly expressed in the developing forebrain, consistent with a role in transcriptional activation. Auts2-bound non-promoter regions overlap with developing brain-associated enhancer marks. Auts2-marked sequences are enriched for neurodevelopmental transcription factor binding motifs (Pitx3, TCF3). Two functional brain enhancers near ASD-implicated genes NRXN1 and ATP2B2 are bound by Auts2. ChIP-seq, RNA-seq on mouse embryonic forebrains, functional enhancer assays Translational psychiatry Medium 25180570
2020 AUTS2 specifically regulates excitatory synapse number in neurons. Auts2-deficient primary cultured neurons and Auts2 mutant forebrains show specifically increased excitatory synapses. Electrophysiological recordings confirmed increased excitatory synaptic inputs and increased c-fos expression in mutant brains, indicating enhanced brain excitability due to altered E/I balance. Auts2 mutant mice exhibited autistic-like behaviors including impaired social interaction and altered vocal communication. Conditional knockout mice, electrophysiology, immunostaining, c-fos expression analysis, behavioral assays iScience High 32498016
2020 AUTS2 is required for Purkinje cell maturation in the cerebellum. Auts2 conditional knockout mice exhibited smaller and deformed cerebella containing immature-shaped Purkinje cells with reduced expression of Cacna1a. Auts2 cKO and knockdown experiments implicated AUTS2 in elimination and translocation of climbing fiber synapses and restriction of parallel fiber synapse numbers. Auts2 cKO mice exhibited behavioral impairments in motor learning and vocal communications. Conditional knockout mice, immunostaining, knockdown experiments, behavioral assays iScience High 33305180
2021 AUTS2 associates with multiple proteins that regulate RNA transcription, splicing, localization, and stability in neonatal mouse cerebral cortex, identified by proteomics (mass spectrometry). AUTS2-containing protein complexes isolated from cortical tissue bound specific RNA transcripts as shown by RNA immunoprecipitation and sequencing (RIP-seq). Conditional excision of Auts2 exon 15 caused breathing abnormalities, neonatal lethality, dentate gyrus hypoplasia with agenesis of hilar mossy neurons, abnormal EEG spiking, and dysregulation of RNA transcripts normally associated with AUTS2. Proteomics/mass spectrometry (pull-down of binding partners), RNA immunoprecipitation and sequencing (RIP-seq), conditional knockout mice, EEG, histology Cerebral cortex High 34013328
2022 AUTS2 together with WDR68 and SKI forms a novel protein complex (AWS) in neuronal progenitors, independent of PRC1, that promotes neuronal differentiation by inhibiting BMP signaling. The AWS complex recruits the CUL4 E3 ubiquitin ligase complex to mediate poly-ubiquitination and proteasomal degradation of phosphorylated SMAD1/5/9, thereby suppressing BMP signaling. Manipulation of the AWS complex in primary cortical neurons leads to aberrant BMP signaling and dysregulated neuronal gene expression. Co-immunoprecipitation (protein complex identification), genomic and biochemical analyses, ubiquitination assays, primary cortical neuron manipulation Stem cell reviews and reports Medium 36258139
2013 Knockdown of auts2 in zebrafish leads to smaller head size, neuronal reduction, and decreased mobility. The full-length and C-terminal AUTS2 isoforms both rescued microcephaly caused by auts2 suppression in zebrafish. Twenty-three functional zebrafish enhancers were identified for AUTS2, 10 of which were active in the brain, and three mouse brain enhancers were characterized that overlap with ASD-associated deletions. Zebrafish morpholino knockdown, rescue experiments with human AUTS2 isoforms, zebrafish and mouse enhancer assays (transient transgenics) PLoS genetics Medium 23349641
2013 Exonic deletions of AUTS2 cause syndromic intellectual disability. The C-terminal region of AUTS2 encodes an alternative isoform (with an alternative transcription start site in a 3' exon) expressed in human brain. Suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the C-terminal isoform of AUTS2. Zebrafish morpholino knockdown, rescue with human AUTS2 isoforms, molecular characterization of isoforms American journal of human genetics Medium 23332918
2022 Deletion of Auts2 in mice causes postnatal dentate gyrus (DG) hypoplasia through a transcription repressor mechanism affecting neural cell migration in postnatal DG development. The SuM-DG-CA3 neural circuit is involved in social recognition and is disrupted in Auts2-deleted mice due to DG hypoplasia. Correction of DG-CA3 synaptic transmission pharmacologically, or chemo/optogenetic activation of the SuM-DG circuit, restored social recognition deficit. Auts2 conditional knockout mice, neural circuit tracing, optogenetics, chemogenetics, pharmacological rescue Science advances High 35235353
2023 AUTS2 missense variant in a patient causes reduced cerebral organoid growth, deficits in neural progenitor cell (NPC) proliferation, and disrupted NPC polarity within ventricular zone-like regions. CRISPR-Cas9 correction of the variant rescued organoid growth and NPC proliferative deficits. Single-cell RNA sequencing revealed reduced G1/S transition gene expression and alterations in WNT-β-catenin signalling within proband NPCs. Human cerebral organoid model, CRISPR-Cas9 gene editing rescue, single-cell RNA sequencing Brain High 35802027
2024 AUTS2 disruption in human cerebral organoids (via CRISPR/Cas9 knockout in human ESCs) reduces populations of cells committed to neuronal lineage and causes overabundance of cells resembling choroid plexus (ChP) cells. AUTS2 negatively regulates the WNT/β-catenin signaling pathway, demonstrated by overactivation in AUTS2-deficient organoids and in luciferase reporter cells lacking AUTS2. Treatment with a WNT inhibitor reversed overexpression of ChP genes and increased downregulated neuronal gene expression in AUTS2-deficient organoids. CRISPR/Cas9 knockout in human ESCs, cerebral organoid culture, transcriptomic analysis, luciferase reporter assays, WNT inhibitor pharmacological rescue Scientific reports High 39174599
2016 In T-cell leukemia, AUTS2 protein interacts with polycomb repressor complex 1 subtype 5 (PRC1.5), converting this complex into a transcriptional activator. AUTS2 activated transcription of NKL homeobox gene MSX1, while PCGF5 repressed it. AUTS2 expression in T-ALL is activated by IL7-IL7R-STAT5 signalling and MEF2C. Gene expression profiling, forced expression and pharmacological inhibition, H3K27me3 analysis, functional transcriptional assays Oncotarget Medium 27322685
2017 Repeated cocaine administration specifically increased Auts2 gene expression in D2-type medium spiny neurons in the nucleus accumbens (but not other regions), an effect seen in male but not female mice. Chromosomal looping connecting Auts2 to the Caln1 gene locus (bypassing 1524 kb of linear genome) was disrupted after repeated cocaine exposure, resulting in increased expression of both genes. Cocaine exposure reduces binding of CTCF (chromosomal scaffolding protein) and increases histone and DNA methylation at the Auts2-Caln1 loop base. Cell type-specific overexpression of Auts2 in D2-type medium spiny neurons promotes cocaine reward. Chromosome conformation capture (3C, 4C), FACS cell-type sorting, viral-mediated cell-type-specific overexpression, behavioral cocaine reward assays Biological psychiatry Medium 28577753
2009 Auts2 protein is localized in the nuclei of neurons and some neuronal progenitors in the developing mouse brain, as shown by immunohistochemistry and western blotting. Auts2 mRNA and protein are highly expressed in developing cerebral cortex, cerebellum (including Purkinje cells and deep nuclei), frontal cortex, hippocampus, dorsal thalamus, olfactory bulb, inferior colliculus, and substantia nigra. Auts2 protein expression colocalizes with Tbr1, a transcription factor specific for postmitotic projection neurons. Immunohistochemistry, in situ hybridization, western blotting in developing mouse brain Gene expression patterns Medium 19948250
2025 AUTS2 interacts with Polycomb complex PRC2 and cooperates with it to promote intermediate progenitor cell (IPC) division in the developing cortex. AUTS2 primarily represses transcription of target genes (including Robo1) in IPCs, with regions around transcriptional start sites of AUTS2 targets enriched for H3K27me3. Loss of AUTS2 reduces H3K27me3 at target loci and increases Robo1 expression, suppressing IPC division and causing fewer upper-layer neurons and microcephaly. Mouse Auts2 mutants, chromatin profiling (H3K27me3 ChIP), transcriptomics, Co-immunoprecipitation (AUTS2-PRC2 interaction), in vivo histological analysis The EMBO journal High 39815005
2025 AUTS2 directly binds RNA in human neural progenitor cells (NPCs), as demonstrated by eCLIP-seq, defining its direct RNA interactome for the first time. AUTS2 also binds chromatin targets (ChIP-seq). AUTS2 knockdown in NPCs leads to widespread gene expression changes, impaired cell proliferation, migration, and neurite outgrowth. Integrated analysis revealed downregulation of WNT pathway genes including WNT7A among targets directly bound by AUTS2 at both chromatin and RNA levels. Supplementation with WNT7A rescued cellular phenotypes in AUTS2-deficient NPCs. eCLIP-seq (direct RNA binding), ChIP-seq (chromatin binding), siRNA knockdown in human NPCs, WNT7A rescue experiments bioRxivpreprint Medium 41278797
2024 AUTS2 is expressed in neural progenitor cells during peak neurogenesis. Upregulation of AUTS2 via in utero electroporation in developing cerebral cortex increased basal progenitor numbers and neurons. Loss of AUTS2-l (long isoform) in Calbindin 1-expressing cell lineages is sufficient to yield learning/memory deficits, hyperactivity, and abnormal dentate gyrus granule cell maturation. In utero electroporation, conditional knockout mice targeting Calbindin 1 lineage, immunofluorescence, cell tracing and sorting, transcriptomic profiling Journal of advanced research Medium 39013538
2024 Brain-wide ablation of the AUTS2 long isoform (AUTS2-l) generates specific subsets of behavioral and brain phenotypes (dominant hyperactivity and repetitive behaviors) distinct from those caused by mutations disrupting both isoforms. Hundreds of putative direct AUTS2-l target genes were identified in postnatal brain. AUTS2-l ablation restricted to Calbindin 1-expressing cell lineages is sufficient for learning/memory deficits and hyperactivity with abnormal dentate gyrus granule cell maturation. Isoform-specific conditional knockout mice, behavioral phenotyping, brain gene expression profiling, cell-lineage-specific conditional KO Genetics Medium 37816306
2016 AUTS2 in the nucleus accumbens (NAc) suppresses heroin-induced locomotor sensitization. Chronic heroin administration specifically decreased AUTS2 mRNA and protein expression in the NAc but not caudate-putamen. Lentiviral-AUTS2-shRNA knockdown in the NAc enhanced heroin-induced locomotor sensitization, while AUTS2 overexpression attenuated the locomotor-stimulant effects of heroin. Lentiviral shRNA knockdown and overexpression in mouse NAc, behavioral locomotor sensitization assays, qRT-PCR, western blot Neuroscience Medium 27423627

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 144 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
2017 Neuronal Migration and AUTS2 Syndrome. Brain sciences 52 28505103
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
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 AUTS2 Gene: Keys to Understanding the Pathogenesis of Neurodevelopmental Disorders. Cells 45 35011572
2021 NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Molecular cell 44 34637754
2019 AUTS2 isoforms control neuronal differentiation. Molecular psychiatry 44 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 41 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 38 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
2022 Auts2 regulated autism-like behavior, glucose metabolism and oxidative stress in mice. Experimental neurology 8 36525998
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
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
2024 Auts2 enhances neurogenesis and promotes expansion of the cerebral cortex. Journal of advanced research 1 39013538
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 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

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