{ "uniprot_canonical_ac": "A0A087WPF7-1", "uniprot_ac": "A0A087WPF7", "uniprot_id": "AUTS2_MOUSE", "mass": { "chemical_mass": 138920.0, "monoisotopic_mass": 138920.0 }, "refseq": {}, "gene_names": [ { "name": "Auts2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A087WPF7", "id": "A0A087WPF7" }, { "name": "Kiaa0442", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A087WPF7", "id": "A0A087WPF7" } ], "protein_names": [ { "name": "Autism susceptibility gene 2 protein homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A087WPF7" } ], "function": [ { "annotation": "Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B. As a consequence, the complex mediates transcriptional activation (By similarity). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (PubMed:25533347).", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7#function" }, { "database": "UniProtKB", "id": "Q8WXX7", "url": "https://www.uniprot.org/uniprot/Q8WXX7#function" }, { "database": "PubMed", "id": "25533347", "url": "https://glygen.org/publication/PubMed/25533347" } ] } ], "disease": [ { "disease_id": "DOID:0050888", "recommended_name": { "id": "DOID:0050888", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms." }, "synonyms": [], "evidence": [ { "id": "0050888", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "disease_id": "DOID:0060307", "recommended_name": { "id": "DOID:0060307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060307", "name": "autosomal dominant intellectual developmental disorder", "description": "A intellectual disability characterized by an autosomal dominant inheritance pattern." }, "synonyms": [ { "id": "DOID:0060307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060307", "name": "autosomal dominant mental retardation", "description": "" }, { "id": "DOID:0060307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060307", "name": "autosomal dominant non-syndromic mental retardation", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "intellectual disability, autosomal dominant 1", "description": "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "MBD5 autosomal dominant non-syndromic intellectual disability", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "MRD1", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "autosomal dominant intellectual disability 1", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "autosomal dominant mental retardation 1", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "intellectual disability, autosomal dominant 1", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "intellectual disability, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "mental retardation, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "autosomal dominant non-syndromic intellectual disability 1", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "chromosome 2Q23.1 deletion syndrome", "description": "" }, { "id": "MONDO:0007974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007974", "name": "mental retardation, autosomal dominant 1", "description": "" }, { "id": "MIM:156200", "resource": "MIM", "url": "https://www.omim.org/entry/156200", "name": "Intellectual developmental disorder, autosomal dominant 1", "description": "Intellectual developmental disorder, autosomal dominant 1" } ], "evidence": [ { "id": "0060307", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060307" } ] }, { "disease_id": "DOID:0070056", "recommended_name": { "id": "DOID:0070056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070056", "name": "autosomal dominant intellectual developmental disorder 26", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22." }, "synonyms": [ { "id": "DOID:0070056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070056", "name": "autosomal dominant non-syndromic intellectual disability 26", "description": "" }, { "id": "DOID:0070056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070056", "name": "MRD26", "description": "" }, { "id": "DOID:0070056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070056", "name": "autosomal dominant mental retardation 26", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "autism spectrum disorder due to AUTS2 deficiency", "description": "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "ASD due to AUTS2 deficiency", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "AUTS2 syndrome", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "MRD26", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "autism spectrum disorder due to AUTS2 deficiency", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "autosomal dominant mental retardation 26", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "autosomal dominant non-syndromic intellectual disability 26", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "intellectual developmental disorder, autosomal dominant 26", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "intellectual disability type 26", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "mental retardation, autosomal dominant 26", "description": "" }, { "id": "MONDO:0014361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014361", "name": "mental retardation, autosomal dominant type 26", "description": "" }, { "id": "MIM:615834", "resource": "MIM", "url": "https://www.omim.org/entry/615834", "name": "Intellectual developmental disorder, autosomal dominant 26", "description": "Intellectual developmental disorder, autosomal dominant 26" } ], "evidence": [ { "id": "0070056", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070056" } ] }, { "disease_id": "DOID:10907", "recommended_name": { "id": "DOID:10907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants." }, "synonyms": [ { "id": "DOID:10907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10907", "name": "Microcephalus", "description": "" }, { "id": "DOID:10907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10907", "name": "microencephaly", "description": "" } ], "evidence": [ { "id": "10907", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ] }, { "disease_id": "DOID:1574", "recommended_name": { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences." }, "synonyms": [ { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "Ethanol abuse", "description": "" }, { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol abuse", "description": "" } ], "evidence": [ { "id": "1574", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Auts2", "url": "https://www.uniprot.org/uniprot/A0A087WPF7", "locus": { "chromosome": "5", "start_pos": 131466171, "end_pos": 132572183, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000029673", "url": "https://www.ensembl.org/id/ENSMUSG00000029673" } ] } } ], "crossref": [ { "id": "ENSMUSG00000029673", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000029673", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A0A087WPF7", "url": "https://www.ebi.ac.uk/intact/interactors/id:A0A087WPF7*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR023246", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023246", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "1919847", "url": "http://www.informatics.jax.org/marker/MGI:1919847", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "REDYEHS", "url": "https://omabrowser.org/oma/group/REDYEHS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3776097at2759", "url": "http://www.orthodb.org/?query=3776097at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14429", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14429", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14429:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14429:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF15336", "url": "http://pfam.xfam.org/family/PF15336", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_A0A087WPF7", "url": "http://purl.obolibrary.org/obo/PR_A0A087WPF7", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-8939243", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8939243", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_796021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796021", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WPF7-1", "url": "https://www.uniprot.org/uniprot/A0A087WPF7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WPF7-2", "url": "https://www.uniprot.org/uniprot/A0A087WPF7-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WPF7-3", "url": "https://www.uniprot.org/uniprot/A0A087WPF7-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7N9VSJ5", "url": "https://www.uniprot.org/uniprot/A0A7N9VSJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7N9VSJ5-1", "url": "https://www.uniprot.org/uniprot/A0A7N9VSJ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0A163", "url": "https://www.uniprot.org/uniprot/A0A7P0A163", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0A163-1", "url": "https://www.uniprot.org/uniprot/A0A7P0A163-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E0CZ47", "url": "https://www.uniprot.org/uniprot/E0CZ47", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E0CZ47-1", "url": "https://www.uniprot.org/uniprot/E0CZ47-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PZ86", "url": "https://www.uniprot.org/uniprot/E9PZ86", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PZ86-1", "url": "https://www.uniprot.org/uniprot/E9PZ86-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R200", "url": "https://www.uniprot.org/uniprot/S4R200", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R200-1", "url": "https://www.uniprot.org/uniprot/S4R200-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDGPTRGHGLRKKRRSRSQRDRERRSRAGLGTGAAGGIGAGRTRAPSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKDVAVKPQERAEKRQTPLTKKKREALTNGLSFHSKKSRLSHSHHYSSDRENDRNLCQHLGKRKKMPKGLRQLKPGQNSCRDSDSESASGESKGFQRSSSRERLSDSSAPSSLGTGYFCDSDSDQEEKASDASSEKLFNTVLVNKDPELGVGALPEHNQDAGPIVPKISGLERSQEKSQDCCKEPVFEPVVLKDPHPQLPQLPSQAQAEPQLQIPSPGPDLVPRTEAPPQFPPPSTQPAQGPPEAQLQPAPLPQVQQRPPRPQSPSHLLQQTLPPVQSHPSSQSLSQPLSAYNSSSLSLNSLSSRSSTPAKTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVPGHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPFGSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSVFGHKDSPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHPSHPSPAPPVPVSALGHNRSSTDPTTRGHLNTEAREKDKPKEKERDHSGSRKDLTTEEHKAKESHLPERDGHSHEGRAAGEEPKQLSRVPSPYVRTPGVDSTRPNSTSSREAEPRKGEPAYENPKKNAEVKVKEERKEDHDLPTEAPQAHRTSEAPPPSSSASASVHPGPLASMPMTVGVTGIHAMNSIGSLDRTRMVTPFMGLSPIPGGERFPYPSFHWDPMRDPLRDPYRDLDMHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLAVDPRREHERGGHLDERERLHVLREDYEHPRLHPVHPASLDGHLPHPSLLTPGLPSMHYPRISPTAGHQNGLLNKTPPTAALSAPPPLISTLGGRPGSPRRTTPLSAEIRERPPSHTLKDIEAR", "length": 1261, "header": "sp|A0A087WPF7-1|AUTS2_MOUSE Isoform 1 of Autism susceptibility gene 2 protein homolog OS=Mus musculus OX=10090 GN=Auts2 PE=1 SV=2 CANONICAL=A0A087WPF7-1" }, "isoforms": [ { "isoform_ac": "A0A087WPF7-1", "url": "", "sequence": { "sequence": "MDGPTRGHGLRKKRRSRSQRDRERRSRAGLGTGAAGGIGAGRTRAPSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKDVAVKPQERAEKRQTPLTKKKREALTNGLSFHSKKSRLSHSHHYSSDRENDRNLCQHLGKRKKMPKGLRQLKPGQNSCRDSDSESASGESKGFQRSSSRERLSDSSAPSSLGTGYFCDSDSDQEEKASDASSEKLFNTVLVNKDPELGVGALPEHNQDAGPIVPKISGLERSQEKSQDCCKEPVFEPVVLKDPHPQLPQLPSQAQAEPQLQIPSPGPDLVPRTEAPPQFPPPSTQPAQGPPEAQLQPAPLPQVQQRPPRPQSPSHLLQQTLPPVQSHPSSQSLSQPLSAYNSSSLSLNSLSSRSSTPAKTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVPGHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPFGSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSVFGHKDSPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHPSHPSPAPPVPVSALGHNRSSTDPTTRGHLNTEAREKDKPKEKERDHSGSRKDLTTEEHKAKESHLPERDGHSHEGRAAGEEPKQLSRVPSPYVRTPGVDSTRPNSTSSREAEPRKGEPAYENPKKNAEVKVKEERKEDHDLPTEAPQAHRTSEAPPPSSSASASVHPGPLASMPMTVGVTGIHAMNSIGSLDRTRMVTPFMGLSPIPGGERFPYPSFHWDPMRDPLRDPYRDLDMHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLAVDPRREHERGGHLDERERLHVLREDYEHPRLHPVHPASLDGHLPHPSLLTPGLPSMHYPRISPTAGHQNGLLNKTPPTAALSAPPPLISTLGGRPGSPRRTTPLSAEIRERPPSHTLKDIEAR", "length": 1261, "header": "sp|A0A087WPF7-1|AUTS2_MOUSE Isoform 1 of Autism susceptibility gene 2 protein homolog OS=Mus musculus OX=10090 GN=Auts2 PE=1 SV=2 CANONICAL=A0A087WPF7-1" }, "locus": { "chromosome": "5", "start_pos": 132570662, "end_pos": 131468277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000161226", "url": "https://www.ensembl.org/id/ENSMUST00000161226" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000159434", "url": "https://www.ensembl.org/id/ENSMUSP00000159434" } ] } }, { "isoform_ac": "A0A087WPF7-2", "url": "", "sequence": { "sequence": "MDGPTRGHGLRKKRRSRSQRDRERRSRAGLGTGAAGGIGAGRTRAPSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKDVAVKPQERAEKRQTPLTKKKREALTNGLSFHSKKSRLSHSHHYSSDRENDRNLCQHLGKRKKMPKGLRQLKPGQNSCRDSDSESASGESKGFQRSSSRERLSDSSAPSSLGTGYFCDSDSDQEEKVRRHPLHCKHNPQGSGCTVTCLLVPVPL", "length": 258, "header": "sp|A0A087WPF7-2|AUTS2_MOUSE Isoform 2 of Autism susceptibility gene 2 protein homolog OS=Mus musculus OX=10090 GN=Auts2 PE=1 SV=2 CANONICAL=A0A087WPF7-1" }, "locus": {} }, { "isoform_ac": "A0A087WPF7-3", "url": "", "sequence": { "sequence": "MFAPPTALPPPPPLTSGSLQVPGHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMLFHSYPPAVSGIPPMIPPTGPFGSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSVFGHKDSPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHPSHPSPAPPVPVSALGHNRSSTDPTTRGHLNTEAREKDKPKEKERDHSGSRKDLTTEEHKAKESHLPERDGHSHEGRAAGEEPKQLSRVPSPYVRTPGVDSTRPNSTSSREAEPRKGEPAYENPKKNAEVKVKEERKEDHDLPTEAPQAHRTSEAPPPSSSASASVHPGPLASMPMTVGVTGIHAMNSIGSLDRTRMVTPFMGLSPIPGGERFPYPSFHWDPMRDPLRDPYRDLDMHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLAVDPRREHERGGHLDERERLHVLREDYEHPRLHPVHPASLDGHLPHPSLLTPGLPSMHYPRISPTAGHQNGLLNKTPPTAALSAPPPLISTLGGRPGSPRRTTPLSAEIRERPPSHTLKDIEAR", "length": 789, "header": "sp|A0A087WPF7-3|AUTS2_MOUSE Isoform 3 of Autism susceptibility gene 2 protein homolog OS=Mus musculus OX=10090 GN=Auts2 PE=1 SV=2 CANONICAL=A0A087WPF7-1" }, "locus": { "chromosome": "5", "start_pos": 131503854, "end_pos": 131468277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000161374", "url": "https://www.ensembl.org/id/ENSMUST00000161374" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000124730", "url": "https://www.ensembl.org/id/ENSMUSP00000124730" } ] } }, { "isoform_ac": "A0A7N9VSJ5-1", "url": "", "sequence": { "sequence": 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"length": 1262, "header": "tr|A0A7N9VSJ5-1|AUTS2_MOUSE Computationally mapped isoform of Autism susceptibility gene 2 protein homolog OS=Mus musculus OX=10090 GN=Auts2 PE=1 SV=1 CANONICAL=A0A087WPF7-1" }, "locus": { "chromosome": "5", "start_pos": 132570662, "end_pos": 131468277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000182974.9", "url": "https://www.ensembl.org/id/ENSMUST00000182974.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000159436.2", "url": "https://www.ensembl.org/id/ENSMUSP00000159436.2" } ] } }, { "isoform_ac": "A0A7P0A163-1", "url": "", "sequence": { "sequence": "MDGPTRGHGLRKKRRSRSQRDRERRSRAGLGTGAAGGIGAGRTRAPSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKDVAVKPQERAEKRQTPLTKKKREALTNGLSFHSKKSRLSHSHHYSSDRENDRNLCQHLGKRKKMPKGLRQLKPGQNSCRDSDSESASGESKGFQRSSSRERLSDSSAPSSLGTGYFCDSDSDQEEKASDASSEKLFNTVLVNKDPELGVGALPEHNQDAGPIVPKISGLERSQEKSQDCCKEPVFEPVVLKDPHPQLPQLPSQAQAEPQLQIPSPGPDLVPRTEAPPQFPPPSTQPAQGPPEAQLQPAPLPQVQQRPPRPQSPSHLLQQTLPPVQSHPSSQSLSQPLSAYNSSSLSLNSLSSRSSTPAKTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVPGHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPFGSLQGAFQPKLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSVFGHKDSPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHPSHPSPAPPVPVSALGHNRSSTDPTTRGHLNTEAREKDKPKEKERDHSGSRKDLTTEEHKAKESHLPERDGHSHEGRAAGEEPKQLSRVPSPYVRTPGVDSTRPNSTSSREAEPRKGEPAYENPKKNAEVKVKEERKEDHDLPTEAPQAHRTSEAPPPSSSASASVHPGPLASMPMTVGVTGIHAMNSIGSLDRTRMVTPFMGLSPIPGGERFPYPSFHWDPMRDPLRDPYRDLDMHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLAVDPRREHERGGHLDERERLHVLREDYEHPRLHPVHPASLDGHLPHPSLLTPGLPSMHYPRISPTAGHQNGLLNKTPPTAALSAPPPLISTLGGRPGSPRRTTPLSAEIRERPPSHTLKDIEAR", "length": 1237, "header": "tr|A0A7P0A163-1|AUTS2_MOUSE Computationally mapped isoform of Autism susceptibility gene 2 protein homolog OS=Mus musculus OX=10090 GN=Auts2 PE=1 SV=1 CANONICAL=A0A087WPF7-1" }, "locus": { "chromosome": "5", "start_pos": 132570662, "end_pos": 131468277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000182575.9", "url": "https://www.ensembl.org/id/ENSMUST00000182575.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000159435.2", "url": "https://www.ensembl.org/id/ENSMUSP00000159435.2" } ] } }, { "isoform_ac": "E0CZ47-1", "url": "", "sequence": { "sequence": "MMKDVAVKPQERAEKRQTPLTKKKREALTNGLSFHSKKSRLSHSHHYSSDRENDRNLCQHLGKRKKMPKGLRQLKPGQNSCRDSDSESASGESKGFQRSSSRERLSDSSAPSSLGTGYF", "length": 119, "header": "tr|E0CZ47-1|AUTS2_MOUSE Computationally mapped isoform of Autism susceptibility gene 2 protein homolog OS=Mus musculus OX=10090 GN=Auts2 PE=1 SV=2 CANONICAL=A0A087WPF7-1" }, "locus": { "chromosome": "5", "start_pos": 132477963, "end_pos": 132059829, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000160135.4", "url": "https://www.ensembl.org/id/ENSMUST00000160135.4" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000125706.3", "url": "https://www.ensembl.org/id/ENSMUSP00000125706.3" } ] } }, { "isoform_ac": "E9PZ86-1", "url": "", "sequence": { "sequence": "MFAPPTALPPPPPLTSGSLQVPGHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPFGSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSVFGHKDSPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHPSHPSPAPPVPVSALGHNRSSTDPTTRGHLNTEAREKDKPKEKERDHSGSRKDLTTEEHKAKESHLPERDGHSHEGRAAGEEPKQLSRVPSPYVRTPGVDSTRPNSTSSREAEPRKGEPAYENPKKNAEVKVKEERKEDHDLPTEAPQAHRTSEAPPPSSSASASVHPGPLASMPMTVGVTGIHAMNSIGSLDRTRMVTPFMGLSPIPGGERFPYPSFHWDPMRDPLRDPYRDLDMHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLAVDPRREHERGGHLDERERLHVLREDYEHPRLHPVHPASLDGHLPHPSLLTPGLPSMHYPRISPTAGHQNGLLNKTPPTAALSAPPPLISTLGGRPGSPRRTTPLSAEIRERPPSHTLKDIEAR", "length": 804, "header": "tr|E9PZ86-1|AUTS2_MOUSE Computationally mapped isoform of Autism susceptibility gene 2 protein homolog OS=Mus musculus OX=10090 GN=Auts2 PE=1 SV=1 CANONICAL=A0A087WPF7-1" }, "locus": { "chromosome": "5", "start_pos": 131503854, "end_pos": 131468277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000161804.9", "url": "https://www.ensembl.org/id/ENSMUST00000161804.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000124027.2", "url": "https://www.ensembl.org/id/ENSMUSP00000124027.2" } ] } }, { "isoform_ac": "S4R200-1", "url": "", "sequence": { "sequence": "XDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTANNMYSF", "length": 142, "header": "tr|S4R200-1|AUTS2_MOUSE Computationally mapped isoform of Autism susceptibility gene 2 protein homolog OS=Mus musculus OX=10090 GN=Auts2 PE=1 SV=1 CANONICAL=A0A087WPF7-1" }, "locus": { "chromosome": "5", "start_pos": 131488989, "end_pos": 131472619, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000162101.3", "url": "https://www.ensembl.org/id/ENSMUST00000162101.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000138441.2", "url": "https://www.ensembl.org/id/ENSMUSP00000138441.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 1200, "end_pos": 1200, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "site_lbl": "Ser1200" }, { "start_pos": 1235, "end_pos": 1235, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "site_lbl": "Ser1235" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.", "journal": "Gene Expr. Patterns", "date": "2010", "authors": "Bedogni F, Hodge RD, Nelson BR, Frederick EA, Shiba N, Daza RA, Hevner RF", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "reference": [ { "type": "PubMed", "id": "19948250", "url": "https://glygen.org/publication/PubMed/19948250" } ] }, { "title": "An AUTS2-polycomb complex activates gene expression in the CNS.", "journal": "Nature", "date": "2014", "authors": "Gao Z, Lee P, Stafford JM, von Schimmelmann M, Schaefer A, Reinberg D", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "reference": [ { "type": "PubMed", "id": "25519132", "url": "https://glygen.org/publication/PubMed/25519132" } ] }, { "title": "Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis.", "journal": "Cell reports", "date": "2014-12-24", "authors": "Hori Kei, Nagai Taku, Shan Wei, Sakamoto Asami, Taya Shinichiro, Hashimoto Ryoya, Hayashi Takashi, Abe Manabu, Yamazaki Maya, Nakao Keiko, Nishioka Tomoki, Sakimura Kenji, Yamada Kiyofumi, Kaibuchi Kozo, Hoshino Mikio", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "reference": [ { "type": "PubMed", "id": "25533347", "url": "https://glygen.org/publication/PubMed/25533347" } ] } ], "pathway": [ { "id": "R-MMU-8939243", "name": "RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8939243", "resource": "Reactome", "description": "RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "positive regulation of histone H3-K4 methylation", "id": "GO:0051571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051571", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "positive regulation of histone H4-K16 acetylation", "id": "GO:2000620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000620", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "righting reflex", "id": "GO:0060013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060013", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "actin cytoskeleton reorganization", "id": "GO:0031532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031532", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "positive regulation of Rac protein signal transduction", "id": "GO:0035022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035022", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "dendrite extension", "id": "GO:0097484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097484", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "innate vocalization behavior", "id": "GO:0098582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098582", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPF7", "url": "https://www.uniprot.org/uniprot/A0A087WPF7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], 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