LOCUS       NM_001102563            2510 bp    mRNA    linear   ROD 10-FEB-2025
DEFINITION  Mus musculus proline-rich transmembrane protein 2 (Prrt2), mRNA.
ACCESSION   NM_001102563
VERSION     NM_001102563.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2510)
  AUTHORS   Merolla,A., Michetti,C., Moschetta,M., Vacca,F., Ciano,L.,
            Emionite,L., Astigiano,S., Romei,A., Horenkamp,S., Berglund,K.,
            Gross,R.E., Cesca,F., Colombo,E. and Benfenati,F.
  TITLE     A pH-sensitive closed-loop nanomachine to control hyperexcitability
            at the single neuron level
  JOURNAL   Nat Commun 15 (1), 5609 (2024)
   PUBMED   38965228
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2510)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 2510)
  AUTHORS   Hatta,D., Kanamoto,K., Makiya,S., Watanabe,K., Kishino,T.,
            Kinoshita,A., Yoshiura,K.I., Kurotaki,N., Shirotani,K. and Iwata,N.
  TITLE     Proline-rich transmembrane protein 2 knock-in mice present
            dopamine-dependent motor deficits
  JOURNAL   J Biochem 174 (6), 561-570 (2023)
   PUBMED   37793168
  REMARK    GeneRIF: Proline-rich transmembrane protein 2 knock-in mice present
            dopamine-dependent motor deficits.
REFERENCE   4  (bases 1 to 2510)
  AUTHORS   Shu,M., Hong,D., Lin,H., Zhang,J., Luo,Z., Du,Y., Sun,Z., Yin,M.,
            Yin,Y., Liu,L., Bao,S., Liu,Z., Lu,F., Huang,J. and Dai,J.
  TITLE     Single-cell chromatin accessibility identifies enhancer networks
            driving gene expression during spinal cord development in mouse
  JOURNAL   Dev Cell 57 (24), 2761-2775 (2022)
   PUBMED   36495874
REFERENCE   5  (bases 1 to 2510)
  AUTHORS   Savino,E., Guarnieri,F.C., Tsai,J.W., Corradi,A., Benfenati,F. and
            Valtorta,F.
  TITLE     An Emerging Role of PRRT2 in Regulating Growth Cone Morphology
  JOURNAL   Cells 10 (10), 2666 (2021)
   PUBMED   34685646
  REMARK    GeneRIF: An Emerging Role of PRRT2 in Regulating Growth Cone
            Morphology.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2510)
  AUTHORS   Valente,P., Castroflorio,E., Rossi,P., Fadda,M., Sterlini,B.,
            Cervigni,R.I., Prestigio,C., Giovedi,S., Onofri,F., Mura,E.,
            Guarnieri,F.C., Marte,A., Orlando,M., Zara,F., Fassio,A.,
            Valtorta,F., Baldelli,P., Corradi,A. and Benfenati,F.
  TITLE     PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter
            Release Machinery
  JOURNAL   Cell Rep 15 (1), 117-131 (2016)
   PUBMED   27052163
REFERENCE   7  (bases 1 to 2510)
  AUTHORS   Rossi,P., Sterlini,B., Castroflorio,E., Marte,A., Onofri,F.,
            Valtorta,F., Maragliano,L., Corradi,A. and Benfenati,F.
  TITLE     A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2):
            HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE
  JOURNAL   J Biol Chem 291 (12), 6111-6123 (2016)
   PUBMED   26797119
  REMARK    GeneRIF: PRRT2 interacts with the Src homology 3 domain-bearing
            protein Intersectin 1, an intracellular protein involved in
            synaptic vesicle cycling.
            Erratum:[J Biol Chem. 2018 Mar 23;293(12):4581. doi:
            10.1074/jbc.AAC118.002651.. PMID: 29572331]
REFERENCE   8  (bases 1 to 2510)
  AUTHORS   Lee,H.Y., Huang,Y., Bruneau,N., Roll,P., Roberson,E.D., Hermann,M.,
            Quinn,E., Maas,J., Edwards,R., Ashizawa,T., Baykan,B., Bhatia,K.,
            Bressman,S., Bruno,M.K., Brunt,E.R., Caraballo,R., Echenne,B.,
            Fejerman,N., Frucht,S., Gurnett,C.A., Hirsch,E., Houlden,H.,
            Jankovic,J., Lee,W.L., Lynch,D.R., Mohammed,S., Muller,U.,
            Nespeca,M.P., Renner,D., Rochette,J., Rudolf,G., Saiki,S.,
            Soong,B.W., Swoboda,K.J., Tucker,S., Wood,N., Hanna,M.,
            Bowcock,A.M., Szepetowski,P., Fu,Y.H. and Ptacek,L.J.
  TITLE     Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia
            with infantile convulsions
  JOURNAL   Cell Rep 1 (1), 2-12 (2012)
   PUBMED   22832103
  REMARK    GeneRIF: Mutants associated with paroxysmal kinesigenic dyskinesia
            with infantile convulsions C lead to dramatically reduced PRRT2
            levels.
REFERENCE   9  (bases 1 to 2510)
  AUTHORS   Sallman Almen,M., Bringeland,N., Fredriksson,R. and Schioth,H.B.
  TITLE     The dispanins: a novel gene family of ancient origin that contains
            14 human members
  JOURNAL   PLoS One 7 (2), e31961 (2012)
   PUBMED   22363774
REFERENCE   10 (bases 1 to 2510)
  AUTHORS   Chen,W.J., Lin,Y., Xiong,Z.Q., Wei,W., Ni,W., Tan,G.H., Guo,S.L.,
            He,J., Chen,Y.F., Zhang,Q.J., Li,H.F., Lin,Y., Murong,S.X., Xu,J.,
            Wang,N. and Wu,Z.Y.
  TITLE     Exome sequencing identifies truncating mutations in PRRT2 that
            cause paroxysmal kinesigenic dyskinesia
  JOURNAL   Nat Genet 43 (12), 1252-1255 (2011)
   PUBMED   22101681
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BB873187.1, BB872849.1, BC053419.1, CB246480.1 and BF323287.1.
            
            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##
            RNAseq introns :: single sample supports all introns SAMN01164131,
                              SAMN01164132 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-136               BB873187.1         2-137
            137-204             BB872849.1         138-205
            205-621             BC053419.1         46-462
            622-904             CB246480.1         387-669
            905-1190            BF323287.1         185-470
            1191-2384           BC053419.1         707-1900
            2385-2510           BC053419.1         1902-2027
FEATURES             Location/Qualifiers
     source          1..2510
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 69.28 cM"
     gene            1..2510
                     /gene="Prrt2"
                     /gene_synonym="1500031I19Rik; DSPB3"
                     /note="proline-rich transmembrane protein 2"
                     /db_xref="GeneID:69017"
                     /db_xref="MGI:MGI:1916267"
     exon            1..207
                     /gene="Prrt2"
                     /gene_synonym="1500031I19Rik; DSPB3"
                     /inference="alignment:Splign:2.1.0"
     exon            208..1168
                     /gene="Prrt2"
                     /gene_synonym="1500031I19Rik; DSPB3"
                     /inference="alignment:Splign:2.1.0"
     CDS             272..1312
                     /gene="Prrt2"
                     /gene_synonym="1500031I19Rik; DSPB3"
                     /note="dispanin subfamily B member 3"
                     /codon_start=1
                     /product="proline-rich transmembrane protein 2"
                     /protein_id="NP_001096033.1"
                     /db_xref="CCDS:CCDS52405.1"
                     /db_xref="GeneID:69017"
                     /db_xref="MGI:MGI:1916267"
                     /translation="MAASSSQVSEMKGVEDSSKTQTEGPRHSEEGLGPVQVVAEIPDQ
                     PEALQPGPGITAAPVDSGPKAELAPETTETPVETPETVQATDLSLNPEEGSKASPSPS
                     PSEARQEPASKPDVNRETAAEEGSEPQSTAPPEPTSEPAFQINTQSDPQPTSQPPPKP
                     PLQAEPPTQEDPTTEVLTESTGEKQENGAVVPLQAGDGEEGPAPQPHSPPSTKTPPAN
                     GAPPRVLQKLVEEDRIGRAHGGHPGSPRGSLSRHPSSQLAGPGVEGGEGTQKPRDYII
                     LAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVALVGGVLII
                     IASCVINLGVYK"
     exon            1169..1301
                     /gene="Prrt2"
                     /gene_synonym="1500031I19Rik; DSPB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..2490
                     /gene="Prrt2"
                     /gene_synonym="1500031I19Rik; DSPB3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2471..2476
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Prrt2"
                     /gene_synonym="1500031I19Rik; DSPB3"
                     /note="hexamer: AATAAA"
     polyA_site      2490
                     /gene="Prrt2"
                     /gene_synonym="1500031I19Rik; DSPB3"
                     /note="major polyA site"
ORIGIN      
        1 agtggagctt aggggagggg accagagaag aagggccgag caaacccgga ggagagagga
       61 ggggagaccc gccacctccc ttcattgctc acagacttgt tccctccccg gtctgcggct
      121 gctgcagcag cagcggcggt ggcggcggga cgcaggagca gtcccgaggc tggcagcgga
      181 tgagactggg accaactgag actgctggat ttgctactgt cactgttgtc tcctcttccc
      241 cacgggccct ctcccatctc gcttctctaa gatggcagcc agcagctctc aggtctctga
      301 gatgaagggg gtggaagaca gttccaaaac ccagacagaa ggtcccaggc attctgaaga
      361 aggactaggt cctgtccagg ttgtagcaga gatcccagac cagccagagg cccttcagcc
      421 gggcccaggc atcactgcag cccctgtgga ctcagggcct aaggcagagc tggcaccaga
      481 aaccacagag accccagttg aaaccccaga aacagtccag gccacagacc tcagtttaaa
      541 cccagaagaa ggctccaagg ccagccccag ccccagcccc agcgaggcac gccaagagcc
      601 agcatccaaa ccagatgtga acagagagac tgcagcagag gaagggtctg agccgcagtc
      661 tacagcccct cctgagccaa cctcggagcc tgcttttcag ataaacaccc agtcagaccc
      721 tcagccaact tcccagcctc ctcctaaacc accccttcag gcagagcccc ccacccaaga
      781 ggaccctacc acagaggtcc tgacagaaag tacaggggaa aaacaagaaa acggagcagt
      841 ggttcccctt caggctggtg acggggaaga gggcccagcc ccccaacctc actcaccacc
      901 ctcaactaaa acacccccag ccaatggggc tcccccccgt gtgctgcaga aactcgttga
      961 ggaagacaga ataggaaggg cacacggtgg gcatccagga tctcctcgag gtagcctaag
     1021 ccgtcatccc agctcccagc tggcagggcc tggggtggaa gggggcgaag gcacccagaa
     1081 acctcgggac tatatcatcc ttgccatcct gtcctgcttc tgccccatgt ggcctgtcaa
     1141 cattgtggcc ttcgcttatg ccgtcatgtc ccggaacagc ctgcaacagg gggacgtgga
     1201 tggggctcaa cgtctgggcc gagtagccaa gctcttaagc atcgtggcgc tggttggggg
     1261 ggtcctcatc atcatcgcct cctgcgtcat caacttaggc gtgtataagt gaggggctct
     1321 gccctgcatt ccaagacttt tcttcctgtt gggagctgtc ttgggtccat ccctgtcctg
     1381 ggagaatccc agtccatggc cctggccccc atctctaggg accaagggag cctgagcggc
     1441 cttgtttaca gcttctttcc ccctgcatcc tgccaggctc ctctgccagc cataggcttc
     1501 ctttctccct gcacttttgc ctgcagaccc ccaccccact cctgcctctt gacctcccta
     1561 accctgcact ctgaaaacct ctctgcactt ctggaagcct tcctgaacat ctaaattgta
     1621 ctctgcacct ctgcatctct cccagcctcc ctgcacttct tcctgcctct ggaatcctct
     1681 gaaccttatc cctggcctcc caacgttcat tgtcttggta tctaacccat cccgttctcc
     1741 ccttccttaa caccgttttt ccccttgcca cgtcccctga ccctttctcc cttttcatct
     1801 cccccttagc gtcttcaccc tcctgccaac acttagtctg caaaaactgc agtacttagg
     1861 tcaggctgag ggaagaagga tggtgtgggg agaggagcct agctgggggc tctgactgtt
     1921 ctctactggg gaccacccag gcccagacca taccctaccc ctacccctaa ggtgcctatt
     1981 gggtcccaaa gctggcaagt gagtcctcac ctgggggacc ttctgagagt ccttattctg
     2041 aacatccagg ggaggaaggg gcatagctgc gcctgaagag tcagcctgaa ttgatctgcc
     2101 cgtttgggct ttttaacctc agagtttctt gtttgaaggt ctatttatgt gctttgtaaa
     2161 cagtagaatt caaaacaaaa caaacaaaca aaaacaggac caaagttccc agctgcaggg
     2221 agcaagggaa gggtggggga gctctgtaat tattctctaa gaggatgagg gaggtttgtt
     2281 gcacgcgaca gccctctgag gaggcagaga gccagctgcg atgcatttca gagttggcgg
     2341 ggttttttgt ttgtttcctt tcttttttaa aaaaaaaaaa aaaagttggg ggaaaactaa
     2401 aattcctttt caaaaaataa aactgagtct ccctttttgt atgctgaatg ctgcatgagt
     2461 cttaaacact aataaacaga gaatgcatga aaaaaaaaaa aaaaaaaaaa
//
