LOCUS       NM_001351233            3898 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens RIMS binding protein 2 (RIMBP2), transcript variant 9,
            mRNA.
ACCESSION   NM_001351233
VERSION     NM_001351233.2
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 3898)
  AUTHORS   Davis,B.A., Chen,H.Y., Ye,Z., Ostlund,I., Tippani,M., Das,D.,
            Sripathy,S.R., Wang,Y., Martin,J.M., Shim,G., Panchwagh,N.M.,
            Moses,R.L., Farinelli,F., Bohlen,J.F., Li,M., Luikart,B.W.,
            Jaffe,A.E. and Maher,B.J.
  TITLE     TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of
            RIMBP2 in Patient-Derived Cortical Neurons
  JOURNAL   Biol Psychiatry 95 (7), 662-675 (2024)
   PUBMED   37573005
  REMARK    GeneRIF: TCF4 Mutations Disrupt Synaptic Function Through
            Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.
REFERENCE   2  (bases 1 to 3898)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3898)
  AUTHORS   Hollingworth,P., Sweet,R., Sims,R., Harold,D., Russo,G.,
            Abraham,R., Stretton,A., Jones,N., Gerrish,A., Chapman,J.,
            Ivanov,D., Moskvina,V., Lovestone,S., Priotsi,P., Lupton,M.,
            Brayne,C., Gill,M., Lawlor,B., Lynch,A., Craig,D., McGuinness,B.,
            Johnston,J., Holmes,C., Livingston,G., Bass,N.J., Gurling,H.,
            McQuillin,A., Holmans,P., Jones,L., Devlin,B., Klei,L.,
            Barmada,M.M., Demirci,F.Y., DeKosky,S.T., Lopez,O.L., Passmore,P.,
            Owen,M.J., O'Donovan,M.C., Mayeux,R., Kamboh,M.I. and Williams,J.
  CONSRTM   GERAD Consortium; National Institute on Aging Late-Onset
            Alzheimer's Disease Family Study Group
  TITLE     Genome-wide association study of Alzheimer's disease with psychotic
            symptoms
  JOURNAL   Mol Psychiatry 17 (12), 1316-1327 (2012)
   PUBMED   22005930
REFERENCE   4  (bases 1 to 3898)
  AUTHORS   Hendrickx,A., Beullens,M., Ceulemans,H., Den Abt,T., Van Eynde,A.,
            Nicolaescu,E., Lesage,B. and Bollen,M.
  TITLE     Docking motif-guided mapping of the interactome of protein
            phosphatase-1
  JOURNAL   Chem Biol 16 (4), 365-371 (2009)
   PUBMED   19389623
REFERENCE   5  (bases 1 to 3898)
  AUTHORS   Mittelstaedt,T. and Schoch,S.
  TITLE     Structure and evolution of RIM-BP genes: identification of a novel
            family member
  JOURNAL   Gene 403 (1-2), 70-79 (2007)
   PUBMED   17855024
  REMARK    GeneRIF: RIMBP2 is identified in humans
REFERENCE   6  (bases 1 to 3898)
  AUTHORS   Guinn,B.A., Bland,E.A., Lodi,U., Liggins,A.P., Tobal,K.,
            Petters,S., Wells,J.W., Banham,A.H. and Mufti,G.J.
  TITLE     Humoral detection of leukaemia-associated antigens in presentation
            acute myeloid leukaemia
  JOURNAL   Biochem Biophys Res Commun 335 (4), 1293-1304 (2005)
   PUBMED   16112646
REFERENCE   7  (bases 1 to 3898)
  AUTHORS   Wang,Y., Sugita,S. and Sudhof,T.C.
  TITLE     The RIM/NIM family of neuronal C2 domain proteins. Interactions
            with Rab3 and a new class of Src homology 3 domain proteins
  JOURNAL   J Biol Chem 275 (26), 20033-20044 (2000)
   PUBMED   10748113
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073912.38, AC095350.8 and AC063926.36.
            
            On Aug 13, 2020 this sequence version replaced NM_001351233.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC007632.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                AC073912.38        15761-15838         c
            79-213              AC095350.8         54911-55045         c
            214-303             AC063926.36        57494-57583
            304-426             AC063926.36        68641-68763
            427-531             AC063926.36        96395-96499
            532-1120            AC063926.36        103073-103661
            1121-1171           AC063926.36        104668-104718
            1172-1376           AC063926.36        118711-118915
            1377-1522           AC063926.36        124071-124216
            1523-1599           AC063926.36        125135-125211
            1600-1709           AC063926.36        130142-130251
            1710-2522           AC063926.36        132751-133563
            2523-2674           AC063926.36        136895-137046
            2675-3124           AC063926.36        138120-138569
            3125-3271           AC063926.36        140531-140677
            3272-3898           AC063926.36        143138-143764
FEATURES             Location/Qualifiers
     source          1..3898
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..3898
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /note="RIMS binding protein 2"
                     /db_xref="GeneID:23504"
                     /db_xref="HGNC:HGNC:30339"
                     /db_xref="MIM:611602"
     exon            1..78
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            79..213
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            214..303
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            304..426
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            427..531
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            532..1120
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1171
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1376
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             1346..3283
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /note="isoform g is encoded by transcript variant 9; RIM
                     binding protein 2; protein phosphatase 1, regulatory
                     subunit 133"
                     /codon_start=1
                     /product="RIMS-binding protein 2 isoform g"
                     /protein_id="NP_001338162.1"
                     /db_xref="GeneID:23504"
                     /db_xref="HGNC:HGNC:30339"
                     /db_xref="MIM:611602"
                     /translation="MNGLATSLGKGQESAIGGSSAIGEYIRPLPQPGDRPEPLSAKPT
                     FLSRSGSARCRSESDMENERNSNTSKQRYSGKVHLCVARYSYNPFDGPNENPEAELPL
                     TAGKYLYVYGDMDEDGFYEGELLDGQRGLVPSNFVDFVQDNESRLASTLGNEQDQNFI
                     NHSGIGLEGEHILDLHSPTHIDAGITDNSAGTLDVNIDDIGEDIVPYPRKITLIKQLA
                     KSVIVGWEPPAVPPGWGTVSSYNVLVDKETRMNLTLGSRTKALIEKLNMAACTYRISV
                     QCVTSRGSSDELQCTLLVGKDVVVAPSHLRVDNITQISAQLSWLPTNSNYSHVIFLNE
                     EEFDIVKAARYKYQFFNLRPNMAYKVKVLAKPHQMPWQLPLEQREKKEAFVEFSTLPA
                     GPPAPPQDVTVQAGVTPATIRVSWRPPVLTPTGLSNGANVTGYGVYAKGQRVAEVIFP
                     TADSTAVELVRLRSLEAKGVTVRTLSAQGESVDSAVAAVPPELLVPPTPHPRPAPQSK
                     PLASSGVPETKDEHLGPHARMDEAWEQSRAPGPVHGHMLEPPVGPGRRSPSPSRILPQ
                     PQGTPVSTTVAKAMAREAAQRVAESSRLEKRSVFLERSSAGQYAASDEEDAYDSPDFK
                     RRGASVDDFLKGSELGKQMVS"
     exon            1377..1522
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1599
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1709
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1710..2522
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2523..2674
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2675..3124
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            3125..3271
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     exon            3272..3898
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3877..3882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /note="hexamer: ATTAAA"
     polyA_site      3898
                     /gene="RIMBP2"
                     /gene_synonym="PPP1R133; RBP2; RIM-BP2"
                     /note="major polyA site"
ORIGIN      
        1 agtttgtaat ctgacacagt acactgcagt tgtctccgag gtgaacctcc ggagccttgg
       61 cacagctcgc ttctaaagct tggaaatgac ccgccacacc tgaagcctgc aggtgctgag
      121 gccacattcg atcagaccca agctttggga gaccgctggg gaaatttccc acttcctctc
      181 ctgagaccag gaactcagca gagaaacttt gtggaaaatg aactgaagga tgccacccag
      241 ggagagtatc tcctgagatc ccatcatgca ggccttccca caagggcccg gcagcatgac
      301 aaggtgaagg cagagtatgt gcatctcaac catccgctca ccctcgtgac cagagagcgc
      361 gatttggccg tgaaggagaa acaccagctc caagccaagc tggagaacct agaacaggtc
      421 ctgaagcata tgcgagaggc ggctgaacgg cggcagcagc tgcagttgga gcatgaccag
      481 gccctggctg ttctcagtgc caagcagcag gaaattgacc ttctgcagaa gcctcagaaa
      541 accaacctcc agtgtccgca ctttaggaag tgtcccatgc tttcacagtt gacgatgacg
      601 ttcgttagca ctcttggttt caagcgacag aaaacccaaa caggaaattg tttttgtgcc
      661 catcactgaa aatgtggctt cagacatggc tagatccagg gctcaaatct gctggcctca
      721 gacccagtag aatccaaggc ctccccgaca tcaccaggac ttggctgctc tctgccctcc
      781 tctggatcag cttcagcctt ggtttccctg tggagacccc cagccactcc agccctgacc
      841 ctcctggtgg caaagtggct gcagcctcac ctcctcccaa gccaaagtcc aatagaaagg
      901 ggcttccctc tcccgcagca ttctcaggca gaggcccatt gccctccgta ggccccacac
      961 cacccaggtc accagtcgct gagggttcag actgtgcttg gcacagggga ggtccagacc
     1021 ccagccagtc cagaggttct tcccaggaga ggagctcctg acgctggagg aagaggcctg
     1081 aggaacaggc ctgttaccca gaggatccgc tatccaggag gctcaggttg aggctaagaa
     1141 ggagcatgaa ggcgcagtgc ggctgctaga gtccaaggtt cgagagctgg aagagaaatg
     1201 ccggactcaa agtgagcagt tcaacctgct gtcccgggac ctggagaagt tccggcagca
     1261 cgctggcaag attgacctgc tgggtggcag cgcggtggcc cccctggaca tctccacggc
     1321 ccccagcaag cctttcccac agttcatgaa tggcctagcc acctccctcg gcaaaggtca
     1381 ggagagcgct attggaggca gctctgcgat cggtgaatat atccggcccc ttccgcagcc
     1441 tggtgacagg ccggagcctc tgtccgccaa gcccaccttc ctgtcgagat ccggtagcgc
     1501 aagatgcaga tctgagtcag acatggagaa tgaacggaat tccaatacct ccaagcagag
     1561 atactcgggg aaggtccacc tctgtgttgc ccgctatagt tacaacccct tcgatggacc
     1621 gaacgagaac cccgaagctg agctgcccct cacggcggga aaatacctct acgtctatgg
     1681 agacatggat gaggatgggt tctatgaagg agagctcctc gatggccaga ggggtctggt
     1741 gccctccaac ttcgtggact ttgtgcagga caacgagtcg cggttggcaa gcacgctggg
     1801 gaacgagcag gatcagaact tcatcaacca ttccggcatc ggcctggagg gagagcacat
     1861 cctggacctc cactccccaa cccacataga tgcgggcatc accgacaaca gtgccgggac
     1921 cctggacgtg aacatcgacg acatcggaga agacatcgtg ccttacccta gaaaaatcac
     1981 cctcatcaaa caactcgcca aaagtgttat tgtgggctgg gagcccccgg cggtgccacc
     2041 aggatgggga acggtgagca gctacaacgt cctggtggac aaggagacac gcatgaacct
     2101 cacgctgggg agcagaacta aagccctcat cgagaagctc aacatggcag cctgcaccta
     2161 ccgcatctcc gtgcagtgcg tcaccagcag gggcagctcg gatgagctgc agtgcacgct
     2221 gctggtgggc aaggacgtgg tggtggcccc ctcccacctg cgggtggaca acatcacgca
     2281 gatctccgcc cagctctcct ggctacccac caacagcaac tacagccacg tcatcttcct
     2341 caacgaggag gagttcgaca tcgtcaaggc cgccaggtac aagtaccagt tcttcaatct
     2401 caggcccaac atggcctata aggtgaaggt tctggccaaa ccccaccaga tgccgtggca
     2461 gctcccgctg gagcaaaggg agaagaagga ggcctttgtg gagttctcca cgttgcctgc
     2521 aggaccccca gcacccccac aagatgttac cgtccaggct ggggtgaccc ccgccaccat
     2581 ccgggtctcc tggagaccac ctgtgctgac gcccaccggg ctgtccaatg gcgcaaacgt
     2641 taccggctac ggcgtgtatg ccaaagggca gagggtggct gaagtcatct tccccacggc
     2701 agacagcacg gccgtggagc ttgtgcggct gcggagcctg gaggccaagg gcgtgaccgt
     2761 gcggaccctc tccgcccagg gcgagtccgt ggactctgca gttgctgccg ttccccccga
     2821 gctcctggtg cctcctaccc cccacccgag acctgcaccc caatcaaagc cattagcaag
     2881 ttctggagtc cccgaaacca aagacgagca cctgggtccc cacgccagga tggatgaggc
     2941 ctgggagcag agccgtgcac ctggccctgt gcatgggcac atgctggagc cgcccgtggg
     3001 ccccggaagg cggtcgccct cacccagccg catcctgcca cagccacagg gcaccccggt
     3061 gtccaccacc gtcgccaagg ccatggcccg ggaggccgcg cagagggtgg ccgagagcag
     3121 caggttagag aaaaggagcg tcttcctaga gagaagcagc gcggggcagt acgccgcctc
     3181 agacgaggag gacgcctatg actctccaga cttcaagagg aggggcgcct cggtggacga
     3241 cttcctgaaa ggctctgaac ttggcaagca gatggtctcc taacagagct ggaattagat
     3301 tgaaccgagg cctgaagaag acctgtttcc acgcctttcc ccatgtgcca cgttctcctc
     3361 acctatccag gagtgaatca tcaccttccc tgcaatctgc tcagattaca aacccggagg
     3421 aaaggctgga gcacttgttc tctgggtgaa ggacccatac ccccactggt ttttgagatc
     3481 ggcattcagc gctgtcttat ggcagccaca gccccaggtg gccccagagc ccttgacatg
     3541 tggccacctg gggctgagtg tgactgaggc cctgaatttt tacttctata aaattagttc
     3601 cagattagtt tacattctaa ttagtttaca tgtaaacagc cacacgtggc tggtggccac
     3661 cagtgctgac gcccagctct ggatgaccac acctgctaca agagatgact tttctagaga
     3721 agagtagaaa cacagcggca gaaacacagc tctgcacttc cgagggcctc ccactccttc
     3781 tgatgagact gcagaggaag tctgtttggc caagcatgct attaacacgt tttcctgctt
     3841 gttttgtttt ttaacagagc aaacaggtct gtttctatta aaatttaaaa agcgttaa
//
