LOCUS       NM_001127232            5711 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens activator of transcription and developmental regulator
            AUTS2 (AUTS2), transcript variant 3, mRNA.
ACCESSION   NM_001127232
VERSION     NM_001127232.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5711)
  AUTHORS   Geng,Z., Tai,Y.T., Wang,Q. and Gao,Z.
  TITLE     AUTS2 disruption causes neuronal differentiation defects in human
            cerebral organoids through hyperactivation of the WNT/beta-catenin
            pathway
  JOURNAL   Sci Rep 14 (1), 19522 (2024)
   PUBMED   39174599
  REMARK    GeneRIF: AUTS2 disruption causes neuronal differentiation defects
            in human cerebral organoids through hyperactivation of the
            WNT/beta-catenin pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5711)
  AUTHORS   Song,Y., Seward,C.H., Chen,C.Y., LeBlanc,A., Leddy,A.M. and
            Stubbs,L.
  TITLE     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
  JOURNAL   Genetics 226 (1) (2024)
   PUBMED   37816306
  REMARK    GeneRIF: 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.
REFERENCE   3  (bases 1 to 5711)
  AUTHORS   Novotny,A., Plavec,J. and Kocman,V.
  TITLE     Structural polymorphism driven by a register shift in a CGAG-rich
            region found in the promoter of the neurodevelopmental regulator
            AUTS2 gene
  JOURNAL   Nucleic Acids Res 51 (6), 2602-2613 (2023)
   PUBMED   36864756
  REMARK    GeneRIF: Structural polymorphism driven by a register shift in a
            CGAG-rich region found in the promoter of the neurodevelopmental
            regulator AUTS2 gene.
REFERENCE   4  (bases 1 to 5711)
  AUTHORS   Fair,S.R., Schwind,W., Julian,D.L., Biel,A., Guo,G., Rutherford,R.,
            Ramadesikan,S., Westfall,J., Miller,K.E., Kararoudi,M.N.,
            Hickey,S.E., Mosher,T.M., McBride,K.L., Neinast,R., Fitch,J.,
            Lee,D.A., White,P., Wilson,R.K., Bedrosian,T.A., Koboldt,D.C. and
            Hester,M.E.
  TITLE     Cerebral organoids containing an AUTS2 missense variant model
            microcephaly
  JOURNAL   Brain 146 (1), 387-404 (2023)
   PUBMED   35802027
  REMARK    GeneRIF: Cerebral organoids containing an AUTS2 missense variant
            model microcephaly.
REFERENCE   5  (bases 1 to 5711)
  AUTHORS   Oksenberg,N. and Ahituv,N.
  TITLE     The role of AUTS2 in neurodevelopment and human evolution
  JOURNAL   Trends Genet 29 (10), 600-608 (2013)
   PUBMED   24008202
  REMARK    GeneRIF: AUTS2, its discovery, expression, association with autism
            and other neurological and non-neurological traits, implication in
            human evolution, function, regulation, and genetic pathways, are
            reviewed.
            Review article
REFERENCE   6  (bases 1 to 5711)
  AUTHORS   Elia,J., Gai,X., Xie,H.M., Perin,J.C., Geiger,E., Glessner,J.T.,
            D'arcy,M., deBerardinis,R., Frackelton,E., Kim,C., Lantieri,F.,
            Muganga,B.M., Wang,L., Takeda,T., Rappaport,E.F., Grant,S.F.,
            Berrettini,W., Devoto,M., Shaikh,T.H., Hakonarson,H. and White,P.S.
  TITLE     Rare structural variants found in attention-deficit hyperactivity
            disorder are preferentially associated with neurodevelopmental
            genes
  JOURNAL   Mol Psychiatry 15 (6), 637-646 (2010)
   PUBMED   19546859
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Mol Psychiatry. 2010 Nov;15(11):1122]
REFERENCE   7  (bases 1 to 5711)
  AUTHORS   Gratacos,M., Costas,J., de Cid,R., Bayes,M., Gonzalez,J.R.,
            Baca-Garcia,E., de Diego,Y., Fernandez-Aranda,F.,
            Fernandez-Piqueras,J., Guitart,M., Martin-Santos,R., Martorell,L.,
            Menchon,J.M., Roca,M., Saiz-Ruiz,J., Sanjuan,J., Torrens,M.,
            Urretavizcaya,M., Valero,J., Vilella,E., Estivill,X. and
            Carracedo,A.
  CONSRTM   Psychiatric Genetics Network Group
  TITLE     Identification of new putative susceptibility genes for several
            psychiatric disorders by association analysis of regulatory and
            non-synonymous SNPs of 306 genes involved in neurotransmission and
            neurodevelopment
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 150B (6), 808-816 (2009)
   PUBMED   19086053
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 5711)
  AUTHORS   Hamshere,M.L., Green,E.K., Jones,I.R., Jones,L., Moskvina,V.,
            Kirov,G., Grozeva,D., Nikolov,I., Vukcevic,D., Caesar,S.,
            Gordon-Smith,K., Fraser,C., Russell,E., Breen,G., St Clair,D.,
            Collier,D.A., Young,A.H., Ferrier,I.N., Farmer,A., McGuffin,P.,
            Holmans,P.A., Owen,M.J., O'Donovan,M.C. and Craddock,N.
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Genetic utility of broadly defined bipolar schizoaffective disorder
            as a diagnostic concept
  JOURNAL   Br J Psychiatry 195 (1), 23-29 (2009)
   PUBMED   19567891
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 5711)
  AUTHORS   Sultana,R., Yu,C.E., Yu,J., Munson,J., Chen,D., Hua,W., Estes,A.,
            Cortes,F., de la Barra,F., Yu,D., Haider,S.T., Trask,B.J.,
            Green,E.D., Raskind,W.H., Disteche,C.M., Wijsman,E., Dawson,G.,
            Storm,D.R., Schellenberg,G.D. and Villacres,E.C.
  TITLE     Identification of a novel gene on chromosome 7q11.2 interrupted by
            a translocation breakpoint in a pair of autistic twins
  JOURNAL   Genomics 80 (2), 129-134 (2002)
   PUBMED   12160723
REFERENCE   10 (bases 1 to 5711)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006012.2, BC064693.1,
            BC011643.2, BG208279.1 and AC073148.7.
            
            On May 31, 2019 this sequence version replaced NM_001127232.2.
            
            Summary: This gene has been implicated in neurodevelopment and as a
            candidate gene for numerous neurological disorders, including
            autism spectrum disorders, intellectual disability, and
            developmental delay. Mutations in this gene have also been
            associated with non-neurological disorders, such as acute
            lymphoblastic leukemia, aging of the skin, early-onset androgenetic
            alopecia, and certain cancers. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, May 2014].
            
            Transcript Variant: This variant (3) lacks several exons and
            includes an alternate 3' terminal exon, compared to variant 1. The
            encoded protein (isoform 3) is shorter and has a distinct
            C-terminus, compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011643.2, SRR14372080.3778468.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-444               AC006012.2         90255-90698         c
            445-1136            BC064693.1         9-700
            1137-2093           BC011643.2         1-957
            2094-2258           BG208279.1         257-421
            2259-5711           AC073148.7         114558-118010
FEATURES             Location/Qualifiers
     source          1..5711
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.22"
     gene            1..5711
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /note="activator of transcription and developmental
                     regulator AUTS2"
                     /db_xref="GeneID:26053"
                     /db_xref="HGNC:HGNC:14262"
                     /db_xref="MIM:607270"
     exon            1..1488
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /inference="alignment:Splign:2.1.0"
     CDS             1180..1980
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /note="isoform 3 is encoded by transcript variant 3;
                     autism-related protein 1; autism susceptibility gene 2
                     protein; autism susceptibility candidate 2; AUTS2,
                     activator of transcription and developmental regulator"
                     /codon_start=1
                     /product="autism susceptibility gene 2 protein isoform 3"
                     /protein_id="NP_001120704.1"
                     /db_xref="CCDS:CCDS47602.1"
                     /db_xref="GeneID:26053"
                     /db_xref="HGNC:HGNC:14262"
                     /db_xref="MIM:607270"
                     /translation="MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTR
                     ALSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEAL
                     EKDVALKPQERVEKRQTPLTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQ
                     HLGKRKKMPKALRQLKPGQNSCRDSDSESASGESKGFHRSSSRERLSDSSAPSSLGTG
                     YFRSGKMCLGEEACLKSGNDMKRDVSNTSSWASNRESFFSLVKLLKGF"
     exon            1489..1701
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /inference="alignment:Splign:2.1.0"
     exon            1702..1803
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /inference="alignment:Splign:2.1.0"
     exon            1804..1839
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /inference="alignment:Splign:2.1.0"
     exon            1840..5711
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2236..2241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /note="hexamer: AATAAA"
     polyA_site      2258
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /note="major polyA site"
     regulatory      2519..2524
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /note="hexamer: AATACA"
     polyA_site      2540
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
     regulatory      2631..2636
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /note="hexamer: CATAAA"
     polyA_site      2649
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
     regulatory      2740..2745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
                     /note="hexamer: AATAAA"
     polyA_site      2763
                     /gene="AUTS2"
                     /gene_synonym="FBRSL2; MRD26"
ORIGIN      
        1 agtgcccggg ctcccgctgc agccgcccgg ggacacgccg tgcaccctcc ggctcggggc
       61 tttctcggcg gcggcggcgg cagcagcagc agcgttagcg gcggcggcga gagcagcgtt
      121 cccggctgcg cttctccctc aggcggggcg gcgagagaag cggcggcggc ggcggcggca
      181 caccggtgtc tctcccgctg gagatttctt tctgctttcc tcatcgactg actgactcac
      241 cccctccctt ttttgaggaa gggtgacctc ttctctggga ctggaaaaaa tatttttgtg
      301 aggagggggg cgggtggcag cgacagggtt tgcttcttct cttctttcat ctccctctcc
      361 tcccccctcg aagaccgaaa agcaaacccc acaactgctc cagcagcatc ctccttccct
      421 tcctccgcct cccttctcct ccgccgctcg cagtttcgcc ctctcttccg ctaatgattg
      481 cattattatg ctcccctctc tggggggtct cgcccctctt gggtcgctcc ggagccccgg
      541 cctcccctgg ctgcatttct taaaaatttg ggagcctggg agtgagtttt ctccgaggcg
      601 tgtgtgagag gcggcggggg tgttttcctg cgcgaggggc gggtgaagtt cattgccccc
      661 acttttcccg cgaccttttt cggacccgat tttggatcga gttgaggggg gcgcgggcgt
      721 tttcgggggg cggggggcgc ggcggagaat ggccgcgggg agggctcccc ggagcctccc
      781 agtctcttga tcaaagcatt ccgctattct gatttattgc ttgcttggtg agttattttt
      841 ttttcctcta aaggagacct gtgtgttcag ccattacttt gctcggcgct gctcccaggc
      901 atctccgacc ctcggtgctg tggggagccc cacacttggg ctcctcgcct ctcgccctcg
      961 ctccccgtcc ctcctcccct ctctccgccc cttccccctt ttctttctcc tctctttctt
     1021 cccctctctc ccttctttcg gccgccgtct cccccgcgcc ctcctcgggg cggagggaag
     1081 ccgtgaaggg ggagggaggg ctcggtgtca attttttttt gtgtggctgc ggccgtagcc
     1141 tgtggcgggc aagcggggag accccggcgc agcagaacca tggatggccc gacgcggggc
     1201 catggactcc gcaaaaagcg gcggtcgcgg tcgcagcgag accgggagag gcgctcccgg
     1261 ggcgggctgg gggccggcgc ggccggcggc ggcggggctg gccggacccg ggcgctctca
     1321 ctcgcctcgt cgtcgggctc cgacaaggaa gacaatggga agcccccgtc ctccgccccg
     1381 tcccggccca gacccccgcg gaggaagcgg agagagtcca cctcggcaga agaggacatc
     1441 attgatggat ttgccatgac cagctttgtc acttttgaag cgctggagaa agatgtagca
     1501 cttaagcctc aggaacgtgt ggagaaacgc cagacgcccc tgaccaagaa gaaacgagaa
     1561 gcacttacca atggcttgtc ctttcattca aagaagagca gactcagcca cccacaccac
     1621 tacagctcag atcgagaaaa tgaccgcaat ctctgccagc accttgggaa gagaaagaaa
     1681 atgccgaagg cactcagaca gctcaagcca ggacagaaca gctgcaggga cagtgacagt
     1741 gaaagtgcca gtggagaatc caagggcttc caccggagca gctctcggga aaggctcagt
     1801 gatagttcag ctccttccag cttgggaaca ggctacttca gatcagggaa gatgtgcctt
     1861 ggagaggaag catgtcttaa atctggaaat gatatgaaga gggatgtcag caacacttca
     1921 tcctgggcca gtaataggga gagtttcttt tctctcgtca aattgcttaa aggattctag
     1981 ttccgtttgg tgtggtcact cacatttgaa ttctaatact ctatgtgata tagattctgt
     2041 tgactactgt tagcgtgacc ccaatgagaa attaaacact tccctccttt tcatttgcag
     2101 tgtgttttag tttaaccttc atttgtttct cttttctcca ttcctcatcc caattcaggt
     2161 atcagatcct ttgacaattg ttaacctgcc cagctgggat ttttggcatt aagctatgac
     2221 tgtaacgttt ctactaataa attagatttt ttaaaagagt gctgcttgcc aagaagcaaa
     2281 gtcattacat agtgtgtata tgttcaatgt atggctataa aagtctcctt agccaaacat
     2341 aatcgacagt taaaataaat ttaaaataac cgtgctacct ctagatttta aaattgttaa
     2401 ggtgaagata ggtggtctaa ttttactcta tttccatttt tcttattcac agggtatatt
     2461 tgttctgtaa aaccacatat gtatcttata gtctgcagct gatgtattta tctgcctaaa
     2521 tacacatttc tccaatggaa tattctgtaa tatcaagcat ttctttttta gatggaaatt
     2581 aattttataa cagttgaaca tcatctttgt caatcagcag ctttatctac cataaagaac
     2641 aaaaacgtac ttggcgtggc ctgctttaac ttttgtagtt cctatgttta aactgaacag
     2701 aggaatatta tgtgaacaaa ttggaaaatt atataaagaa ataaaaatct ttttactatt
     2761 atagttatct ttaccccata gctttcaaaa aggcatttga agcaatttaa taaaatagga
     2821 ataacagtaa gtactagatg tgagaggtga gaaaacaact ttgtaaatca cccatctcac
     2881 gaagttgcac agaggttcct gatagcccag acaatgaaat aatgtgataa ttcctatttt
     2941 cagaaaagat aactagctcc ttattttgtt ttgggtgtag aatgggggaa gtggtatatt
     3001 tttgctaagt tctaaattct taggaaaatg ttcacatggg ttttgagagt cactgtataa
     3061 ctgacaatgt ccccagttac agatttccag aaaattcaga catggaattc atgttactca
     3121 ttttagttct aacctttgat gaaagattag ggcattagat tgaagcttaa gtaagcaaag
     3181 gcattcttca ggtgatgtgg ttcattctaa tcagtaattt tatgatggtg ttcatattcc
     3241 attccaatga tcaaatggac tagtaagctt gagaaataag acaaactaga gagagagatt
     3301 attttataaa tatgaaggag gctagtgaaa ttttggtcca gatggaaagc cacccactct
     3361 cccaggtcag gactgcatag atgaagtata agcaaaaccg tcattcacac tttgaaggtg
     3421 ctgctttaga gagatgtcat tatatgtggt gtcagatttt tcaccctgtt cagtactggg
     3481 cactgatttt taaaaccact tatctatatt ttttaaatgt cttctgactc attggattga
     3541 ttttgtggac ctactggtag tctttggata tcccccagtt aatctttgct tccatgatga
     3601 gcatttattg aattctattc ttatgccagg cactgtacta gattttagga gtacagtagt
     3661 caggttttcc ttgccttcat ggagtctctg gtcaaatact ttggttctta tatagcggtt
     3721 catgttccga cacgtggtta cccacacagg ctttagttaa catctgcatc acctgctgca
     3781 cattctcatc taaaatgcgt atgtgaaagt acagttgtag ccactcagtg tcactcacca
     3841 gtggggcttt aggcctgaga ctttccgata gcctctaatt atgtaaaacc atgcctgtat
     3901 tcaggagtca gaagtgatca aaatgtttta ggaagcacac cgtcagcata gatgtgtcaa
     3961 ctcagcagca agatttttca ttcttttaaa gttacacatt tcataaagaa gaagggtatc
     4021 agtgtaaact tctaaatgca ggacaaaatg catgattggg gatggagatt ggagtggact
     4081 tgttcaaaga gcagcagcaa atgagacatt aaaggaatac ataggaagcc acttccaagt
     4141 acttccattt ttctttagtt gtgattgtga gatggttccc tactagttag agaaggaaaa
     4201 ttttaaaatg ctttgctaaa cagatgatcc ttaaattggt cactgtatac cgtgatgcag
     4261 cctaatcaaa atggtattcc tttgagtgag tgagccacag agactctcgc caaccccttg
     4321 tgcagctttc tattaacagt ataaatactc cattgttgta aagcagttta tggttaacaa
     4381 agcgctgtca cagacacgtt atcttagttt tgcagattgc ctttgtacat gttattctca
     4441 tttcctagca tgccctctat ccctgctttg cctgcttagc aagctcattc ttatccttca
     4501 ggacataaca ccaactctgc aaagtcctct tgagaccctt ctgagcaggt agatggtccc
     4561 ttccccgtac ttacacaagc cctgatctca tctctgttgt catttgttca catcactgtt
     4621 tctccctgga gactgagtct ctcaagggta aggacactgt gtgctcttca tttttcttcc
     4681 cagtgccttt gtaaccagtc ttcctggggg atactttgta agtaaaggtg aatactgtat
     4741 ggtgtgcagc ttaggagagc ttaagccact tcctaagtta agatactaag tagtagataa
     4801 gagtaaaact taagtgtctt aactcctgtt tttatcggtt tttctggttt atcagtttat
     4861 tgctcatctg aaaacaagct gtccacatca tactcatgct gttctacctg tcagagatat
     4921 attacatggt aaatgtgagt gataaaggag gataagttct ttgtcagaat gaggacattt
     4981 cggttctgtc atcatgcctg aaatgcatga tttcacatga tttccatgtg aaataaaaca
     5041 ttggtataaa agggatatgg acaaatttgt ggatgttaga accacacctt tttctctgaa
     5101 tttattttct tctcactcct acttggcata ttccctgtca ttgtttgaga gtgtgcacca
     5161 atgtcctcgt ctcagggaca ccatttcttt cccgctatta gagtgtctgg atgatgccgt
     5221 acccttagtg cactgtcctg ttgaaaattt ggtacattag ttattttaag gtttaaaaac
     5281 attgctgcct acataatatt ccacctcttt ggagcatttg cattggagtg accagtggct
     5341 tgaagctctg tatggtggag tgactgatgg tagttgaaga ctgcaaaagt aggtatctga
     5401 gggctggaag gcattcctgg cacccctaaa actaccccac tgggggccat ccaagcctgt
     5461 gattaacaaa ccctagttat ttgctaggta gtttccacat ggcatagtag gatatatata
     5521 tgtgaggcac aatacagtgt ttatgtgaga ataatataga ttatttgaat ctaggctgca
     5581 gaacctacct gaaaatgggt tttacagttt tgtgtaattg ccttttcttt gtgtttgcat
     5641 agaaggcatt gcatagctgg aagatgatgg caattataat ttattatgct gtaattgtta
     5701 cctaaatgtt t
//
