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    Auts2 autism susceptibility candidate 2 [ Mus musculus (house mouse) ]

    Gene ID: 319974, updated on 12-May-2024

    Summary

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    Official Symbol
    Auts2provided by MGI
    Official Full Name
    autism susceptibility candidate 2provided by MGI
    Primary source
    MGI:MGI:1919847
    See related
    Ensembl:ENSMUSG00000029673 AllianceGenome:MGI:1919847
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2700063G02Rik; A730011F23Rik; D830032G16Rik
    Summary
    Predicted to enable chromatin binding activity. Involved in several processes, including generation of neurons; positive regulation of Rac protein signal transduction; and positive regulation of lamellipodium assembly. Acts upstream of or within innate vocalization behavior and righting reflex. Located in growth cone and nucleus. Colocalizes with actin cytoskeleton. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study autosomal dominant non-syndromic intellectual disability and autosomal dominant non-syndromic intellectual disability 26. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 26. Orthologous to human AUTS2 (activator of transcription and developmental regulator AUTS2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E14 (RPKM 20.4), whole brain E14.5 (RPKM 18.2) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 G2; 5 70.66 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (131466171..132572059, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (131437333..132543220, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 17 Neighboring gene STARR-seq mESC enhancer starr_14481 Neighboring gene predicted gene, 40338 Neighboring gene STARR-seq mESC enhancer starr_14482 Neighboring gene STARR-seq mESC enhancer starr_14484 Neighboring gene STARR-seq mESC enhancer starr_14488 Neighboring gene predicted gene, 29681 Neighboring gene STARR-seq mESC enhancer starr_14493 Neighboring gene STARR-seq mESC enhancer starr_14494 Neighboring gene STARR-seq mESC enhancer starr_14497 Neighboring gene predicted gene, 54306 Neighboring gene STARR-seq mESC enhancer starr_14498 Neighboring gene RIKEN cDNA 4930563F08 gene Neighboring gene STARR-seq mESC enhancer starr_14499 Neighboring gene VISTA enhancer mm131 Neighboring gene STARR-seq mESC enhancer starr_14500 Neighboring gene STARR-seq mESC enhancer starr_14501 Neighboring gene STARR-seq mESC enhancer starr_14502 Neighboring gene STARR-seq mESC enhancer starr_14503 Neighboring gene STARR-seq mESC enhancer starr_14504 Neighboring gene STARR-seq mESC enhancer starr_14505 Neighboring gene STARR-seq mESC enhancer starr_14506 Neighboring gene STARR-seq mESC enhancer starr_14507 Neighboring gene STARR-seq mESC enhancer starr_14508 Neighboring gene predicted gene, 36528 Neighboring gene predicted gene, 57743

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Auts2 regulated autism-like behavior, glucose metabolism and oxidative stress in mice. Liu M, et al. Exp Neurol, 2023 Mar. PMID 36525998
    2. Auts2 deletion involves in DG hypoplasia and social recognition deficit: The developmental and neural circuit mechanisms. Li J, et al. Sci Adv, 2022 Mar 4. PMID 35235353, Free PMC Article
    3. AUTS2 isoforms control neuronal differentiation. Monderer-Rothkoff G, et al. Mol Psychiatry, 2021 Feb. PMID 30953002
    4. AUTS2 in the nucleus accumbens is essential for heroin-induced behavioral sensitization. Zhu Y, et al. Neuroscience, 2016 Oct 1. PMID 27423627
    5. Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Oksenberg N, et al. Transl Psychiatry, 2014 Sep 2. PMID 25180570, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Auts2 regulated autism-like behavior, glucose metabolism and oxidative stress in mice.
      Title: Auts2 regulated autism-like behavior, glucose metabolism and oxidative stress in mice.
    2. Auts2 deletion involves in DG hypoplasia and social recognition deficit: The developmental and neural circuit mechanisms.
      Title: Auts2 deletion involves in DG hypoplasia and social recognition deficit: The developmental and neural circuit mechanisms.
    3. AUTS2 Regulates RNA Metabolism and Dentate Gyrus Development in Mice.
      Title: AUTS2 Regulates RNA Metabolism and Dentate Gyrus Development in Mice.
    4. AUTS2 isoforms control neuronal differentiation.
      Title: AUTS2 isoforms control neuronal differentiation.
    5. Description of a mouse mutation, T(5G2;8A1)GSO, a reciprocal translocation that breaks between Auts2 and Galnt17 and dysregulates both genes and Is associated with phenotypes related to the human AUTS2 syndrome.
      Title: A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome.
    6. Study reveals AUTS2 signaling role in mediating heroin-induced behavioral and neurochemical adaptations in the nucleus accumbens, but not the caudate-putamen, potentially mediated through the control of Rac1 activity.
      Title: AUTS2 in the nucleus accumbens is essential for heroin-induced behavioral sensitization.
    7. Our results implicate Auts2 as an active regulator of important neurodevelopmental genes and pathways and identify novel genomic regions that could be associated with ASD and other neurodevelopmental diseases.
      Title: Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.
    8. AUTS2 activates Rac1 to induce lamellipodia but downregulates Cdc42 to suppress filopodia.
      Title: Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis.
    9. Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.
      Title: Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (7)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in axon extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dendrite extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within innate vocalization behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of Rac protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within righting reflex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in growth cone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    autism susceptibility gene 2 protein homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001363480.1 → NP_001350409.1  autism susceptibility gene 2 protein homolog

      Status: VALIDATED

      Source sequence(s)
      AK052418, AK147478, BB621504, BB658109, BC058110, BC096021, CV557700
      UniProtKB/Swiss-Prot
      A0A087WPF7, E9PWJ4, Q6ZQB3, Q8BWI6
      UniProtKB/TrEMBL
      A0A7N9VSJ5
      Related
      ENSMUSP00000159434.2, ENSMUST00000161226.11
      Conserved Domains (2) summary
      pfam15336
      Location:650 → 842
      Auts2; Autism susceptibility gene 2 protein
      cl25764
      Location:297 → 490
      PAT1; Topoisomerase II-associated protein PAT1

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      131466171..132572059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A087WPF7.2 GenPept UniProtKB/Swiss-Prot:A0A087WPF7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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