LOCUS       NM_021190               3321 bp    mRNA    linear   PRI 13-MAY-2024
DEFINITION  Homo sapiens polypyrimidine tract binding protein 2 (PTBP2),
            transcript variant 6, mRNA.
ACCESSION   NM_021190
VERSION     NM_021190.4
KEYWORDS    RefSeq; MANE Select.
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 3321)
  AUTHORS   Moreno-Aguilera,M., Neher,A.M., Mendoza,M.B., Dodel,M.,
            Mardakheh,F.K., Ortiz,R. and Gallego,C.
  TITLE     KIS counteracts PTBP2 and regulates alternative exon usage in
            neurons
  JOURNAL   Elife 13, e96048 (2024)
   PUBMED   38597390
  REMARK    GeneRIF: KIS counteracts PTBP2 and regulates alternative exon usage
            in neurons.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3321)
  AUTHORS   Dawicki-McKenna,J.M., Felix,A.J., Waxman,E.A., Cheng,C.,
            Amado,D.A., Ranum,P.T., Bogush,A., Dungan,L.V., Maguire,J.A.,
            Gagne,A.L., Heller,E.A., French,D.L., Davidson,B.L. and
            Prosser,B.L.
  TITLE     Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target
            for therapeutic splice switching
  JOURNAL   Nat Commun 14 (1), 2628 (2023)
   PUBMED   37149717
  REMARK    GeneRIF: Mapping PTBP2 binding in human brain identifies SYNGAP1 as
            a target for therapeutic splice switching.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3321)
  AUTHORS   Mei,H., Yin,B., Yang,W., Zhang,J., Lu,H., Qi,X., Mei,W., Zhang,H.
            and Zhang,J.
  TITLE     Associations between Gene-Gene Interaction and Overweight/Obesity
            of 12-Month-Old Chinese Infants
  JOURNAL   Biomed Res Int 2022, 1499454 (2022)
   PUBMED   35295960
  REMARK    GeneRIF: Associations between Gene-Gene Interaction and
            Overweight/Obesity of 12-Month-Old Chinese Infants.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3321)
  AUTHORS   Paradis,C., Cloutier,P., Shkreta,L., Toutant,J., Klarskov,K. and
            Chabot,B.
  TITLE     hnRNP I/PTB can antagonize the splicing repressor activity of
            SRp30c
  JOURNAL   RNA 13 (8), 1287-1300 (2007)
   PUBMED   17548433
  REMARK    GeneRIF: Study shows that PTB can function as an anti-repressor
            molecule to counteract the splicing inhibitory activity of SRp30c.
REFERENCE   5  (bases 1 to 3321)
  AUTHORS   Romanelli,M.G., Lorenzi,P. and Morandi,C.
  TITLE     Identification and analysis of the human neural polypyrimidine
            tract binding protein (nPTB) gene promoter region
  JOURNAL   Gene 356, 11-18 (2005)
   PUBMED   16002244
  REMARK    GeneRIF: The nPTB proximal promoter, although rich in G+C content
            and presenting putative binding sites for the transcription factors
            Sp1, NF-1, NF-kB and Oct-1, lacks a typical TATA box.
REFERENCE   6  (bases 1 to 3321)
  AUTHORS   Rahman,L., Bliskovski,V., Kaye,F.J. and Zajac-Kaye,M.
  TITLE     Evolutionary conservation of a 2-kb intronic sequence flanking a
            tissue-specific alternative exon in the PTBP2 gene
  JOURNAL   Genomics 83 (1), 76-84 (2004)
   PUBMED   14667811
REFERENCE   7  (bases 1 to 3321)
  AUTHORS   Mitchell,S.A., Spriggs,K.A., Coldwell,M.J., Jackson,R.J. and
            Willis,A.E.
  TITLE     The Apaf-1 internal ribosome entry segment attains the correct
            structural conformation for function via interactions with PTB and
            unr
  JOURNAL   Mol Cell 11 (3), 757-771 (2003)
   PUBMED   12667457
REFERENCE   8  (bases 1 to 3321)
  AUTHORS   Rahman,L., Bliskovski,V., Reinhold,W. and Zajac-Kaye,M.
  TITLE     Alternative splicing of brain-specific PTB defines a
            tissue-specific isoform pattern that predicts distinct functional
            roles
  JOURNAL   Genomics 80 (3), 245-249 (2002)
   PUBMED   12213192
REFERENCE   9  (bases 1 to 3321)
  AUTHORS   Tateiwa,H., Gotoh,N., Ichikawa,M., Kikuchi,T. and Yoshimura,N.
  TITLE     Molecular cloning and characterization of human PTB-like protein: a
            possible retinal autoantigen of cancer-associated retinopathy
  JOURNAL   J Neuroimmunol 120 (1-2), 161-169 (2001)
   PUBMED   11694331
REFERENCE   10 (bases 1 to 3321)
  AUTHORS   Markovtsov,V., Nikolic,J.M., Goldman,J.A., Turck,C.W., Chou,M.Y.
            and Black,D.L.
  TITLE     Cooperative assembly of an hnRNP complex induced by a
            tissue-specific homolog of polypyrimidine tract binding protein
  JOURNAL   Mol Cell Biol 20 (20), 7463-7479 (2000)
   PUBMED   11003644
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB473562.1, AF176085.1,
            BC016582.2, AI968454.1 and AI052528.1.
            
            On Feb 27, 2020 this sequence version replaced NM_021190.3.
            
            Summary: The protein encoded by this gene binds to intronic
            polypyrimidine clusters in pre-mRNA molecules and is implicated in
            controlling the assembly of other splicing-regulatory proteins.
            This protein is very similar to the polypyrimidine tract binding
            protein (PTB) but most of its isoforms are expressed primarily in
            the brain. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (6, also known as nPTB1) uses two
            alternate in-frame splice sites in the 3' coding region, compared
            to variant 1. The encoded isoform (6) is shorter than 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 :: BK000526.1, AF176085.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000674951.1/ ENSP00000502818.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-120               DB473562.1         170-289
            121-2117            AF176085.1         92-2088
            2118-2844           BC016582.2         2069-2795
            2845-3155           AI968454.1         2-312               c
            3156-3321           AI052528.1         13-178              c
FEATURES             Location/Qualifiers
     source          1..3321
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.3"
     gene            1..3321
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /note="polypyrimidine tract binding protein 2"
                     /db_xref="GeneID:58155"
                     /db_xref="HGNC:HGNC:17662"
                     /db_xref="MIM:608449"
     exon            1..89
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..1677
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /note="isoform 6 is encoded by transcript variant 6;
                     neural polypyrimidine tract binding protein; PTB-like
                     protein; neurally-enriched homolog of PTB"
                     /codon_start=1
                     /product="polypyrimidine tract-binding protein 2 isoform
                     6"
                     /protein_id="NP_067013.1"
                     /db_xref="CCDS:CCDS754.1"
                     /db_xref="GeneID:58155"
                     /db_xref="HGNC:HGNC:17662"
                     /db_xref="MIM:608449"
                     /translation="MDGIVTEVAVGVKRGSDELLSGSVLSSPNSNMSSMVVTANGNDS
                     KKFKGEDKMDGAPSRVLHIRKLPGEVTETEVIALGLPFGKVTNILMLKGKNQAFLELA
                     TEEAAITMVNYYSAVTPHLRNQPIYIQYSNHKELKTDNTLNQRAQAVLQAVTAVQTAN
                     TPLSGTTVSESAVTPAQSPVLRIIIDNMYYPVTLDVLHQIFSKFGAVLKIITFTKNNQ
                     FQALLQYGDPVNAQQAKLALDGQNIYNACCTLRIDFSKLVNLNVKYNNDKSRDYTRPD
                     LPSGDGQPALDPAIAAAFAKETSLLAVPGALSPLAIPNAAAAAAAAAAGRVGMPGVSA
                     GGNTVLLVSNLNEEMVTPQSLFTLFGVYGDVQRVKILYNKKDSALIQMADGNQSQLAM
                     NHLNGQKMYGKIIRVTLSKHQTVQLPREGLDDQGLTKDFGNSPLHRFKKPGSKNFQNI
                     FPPSATLHLSNIPPSVAEEDLRTLFANTGGTVKAFKFFQDHKMALLQMATVEEAIQAL
                     IDLHNYNLGENHHLRVSFSKSTI"
     exon            90..120
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            121..196
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            197..369
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            370..513
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            514..678
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            679..789
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            790..985
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1125
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1159
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1252
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1469
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1470..1547
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..3321
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3042..3047
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /note="hexamer: ATTAAA"
     polyA_site      3065
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /note="major polyA site"
     regulatory      3132..3137
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /note="hexamer: AATAAA"
     polyA_site      3153
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
     regulatory      3297..3302
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
                     /note="hexamer: AATAAA"
     polyA_site      3321
                     /gene="PTBP2"
                     /gene_synonym="brPTB; nPTB; PTBLP"
ORIGIN      
        1 agccgccatt ttctcgccgc ttgtgtggct cgctggctgc gtggctcggt tcttgtgagc
       61 gaagctttgt ccggttcggc aatggacgga atcgtcactg aggttgcagt tggcgtgaag
      121 agaggatctg acgaactact ctcaggcagt gttctcagta gtccgaactc taatatgagc
      181 agcatggtag ttacagccaa tggtaatgat agtaaaaaat ttaaaggaga agataaaatg
      241 gatggtgctc cttctcgtgt acttcatatt cgaaaattac ctggggaagt aacagaaact
      301 gaagttattg ctttaggctt accttttggt aaggtgacca acatccttat gctgaaagga
      361 aaaaatcagg catttttgga actagcaacc gaggaagcag ctattactat ggttaattac
      421 tattctgctg tgacacctca tcttcgtaac caaccaatat atatccagta ctcgaatcac
      481 aaagaactaa agacagataa tacattaaac caacgtgctc aggcagttct tcaagctgtg
      541 acagctgtcc agacagcaaa tactcctctt agtggcacca cagttagcga gagtgcagtg
      601 actccagccc agagtccagt acttagaata attattgaca acatgtacta ccctgtaaca
      661 cttgatgttc ttcaccaaat attttctaag tttggtgctg tattgaagat aatcacattt
      721 acaaaaaata accagtttca agctttgctc cagtatggtg atccagtaaa tgctcaacaa
      781 gcaaaactag ccctagatgg tcagaatatt tataatgcct gctgtaccct aaggattgat
      841 ttttccaaac ttgtgaattt gaatgtaaaa tacaacaatg ataaaagtag ggattatact
      901 cgacctgatc ttccatctgg ggatggacaa cctgcattgg acccagctat tgctgcagca
      961 tttgccaagg agacatccct cttagctgtt ccaggagctc tgagtccttt ggccattcca
     1021 aatgctgctg cagcagctgc tgcagctgct gctggccgag tgggtatgcc tggagtctca
     1081 gctggtggca atacagtcct gttggttagc aatttaaatg aagagatggt tacgccccaa
     1141 agtctgttta ccctcttcgg tgtttatgga gatgtgcagc gtgtgaagat tttatacaat
     1201 aagaaagaca gcgctctaat acagatggct gatggaaacc aatcacaact tgccatgaat
     1261 catcttaatg gacagaaaat gtatggaaaa attattcgtg ttactctgtc taaacatcag
     1321 actgtacagc tacctcgaga gggacttgat gatcaagggc taacaaaaga ttttggtaat
     1381 tccccattgc atcgttttaa gaaacctgga tccaaaaatt ttcaaaacat ttttcctcct
     1441 tctgccaccc ttcacctatc taatatccct ccatcagtag cagaagagga tctacgaaca
     1501 ctgttcgcta acactggggg cactgtgaaa gcatttaagt tttttcaaga tcacaaaatg
     1561 gctcttcttc agatggcaac agtggaagaa gctattcagg ccttgattga tcttcataat
     1621 tataaccttg gagaaaacca tcatctgaga gtgtctttct ccaagtcaac aatttaaaaa
     1681 tgggaagatg aagattgggg gtgaatcaca ttgttcaatg tcatcaccta tttgactgtt
     1741 cagaaaagtg gggaccagag tttgattttt tttgtttttg tttttttggg gtttcttttt
     1801 tttttccatg ctgttatcat tccttggtta taaaatgaaa tggcatatgt aaaggcagag
     1861 ttgttaactg ctatatttca tctgttctat agggaagcca ttttgtctgt ttaaaatttc
     1921 agtttaattt tgcttttttt tttttttttt ttttcctttc aacttagttg acatacgtgc
     1981 cttaaaaagg aaaactagtg ttgctattgt gcatttacta gaaaaaagga attggttgtt
     2041 tagggcacac tgttatatgg gaattaaaat atgtttaggc aggggtgtgt aaaaaggtta
     2101 agtttttgtt tctcctgctt ggaacttatt ttgaattact ggcttgtcac ctttttttct
     2161 atttaatcaa ataagataca tgatattgaa agaataaagc agcattttta gtttttacta
     2221 ccttaggctt tattgctttg aaaacaacat tggccttttg tatctcacaa ttctggtcta
     2281 gattcagtta tgaatgtagg cattagttaa aattaacaag atgcagagta ttaatttctt
     2341 aagacaacaa agtgatttct gtaagtttga gccctatgtg gaaagcattg tggaatctta
     2401 accttttcgt acacactctt gtgggacgta tcatataaat gtcagcacta agtaatgtct
     2461 tgtttgtggc tgaatatttt tcgtagatgt ttttgaagtt gacatgactt acgtgcattt
     2521 aaatatatat tgccatcctt agtttgtaat taagatttgg aatatggttg tggatttctg
     2581 agcatgtgca gactggtcta gctagttcag gaactggtgc atgtattttt caaagataaa
     2641 gaaagtgtac tgcgaaaata tgcaggaaga ttaattttgt ggcagttttc taaaactgac
     2701 aaccaggtgg gaccaaagtt tatgtgcctt tagtcttaat ttaccttgca ttgtaatatt
     2761 cagttttaat aaatcttcaa aatattttgt atttaggaat agatctgact ttaataaaaa
     2821 catggctcag aatctacagg tcaaattaat ttgaacagtt cttgtcaatc cgaattgttg
     2881 attctgttta aatgaccaat actttttgaa attgatgtac ttagtttcaa gattcataga
     2941 ttctgttatc tatgtagaca gaatggtcat gtatattttc tattagttga gtttttacat
     3001 ctttagaaat gtaaaattca gtatagtttg aaagcggcac aattaaaaat taattttcta
     3061 acaaagttgg gaggtttgat ggttgtttaa tttcattttg tgtgtactct gcttacccct
     3121 gtagcatgct caataaacac ttctgtagct ctatattcac cttttctgtc tttctctgct
     3181 gccttttctc tctcctcttc tttgttttca ctccactgtg cttctgaatt catgtttatt
     3241 ctctgccagg gtgggaaagg agtaataata ttacaattct atggctttat accataaata
     3301 aatctagatg ctgtgaaaat a
//
