LOCUS       NM_001256443            3051 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens proline rich transmembrane protein 2 (PRRT2),
            transcript variant 3, mRNA.
ACCESSION   NM_001256443
VERSION     NM_001256443.2
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 3051)
  AUTHORS   Li,X., Lei,D., Qin,K., Li,L., Zhang,Y., Zhou,D., Kemp,G.J. and
            Gong,Q.
  TITLE     Effects of PRRT2 mutation on brain gray matter networks in
            paroxysmal kinesigenic dyskinesia
  JOURNAL   Cereb Cortex 34 (1) (2024)
   PUBMED   37955636
  REMARK    GeneRIF: Effects of PRRT2 mutation on brain gray matter networks in
            paroxysmal kinesigenic dyskinesia.
REFERENCE   2  (bases 1 to 3051)
  AUTHORS   Fearn,N., Macdonald-Laurs,E., Moylan,L. and Howell,K.B.
  TITLE     Peri-ictal EEG in infants with PRRT2-related self-limited infantile
            epilepsy
  JOURNAL   Epileptic Disord 25 (4), 510-518 (2023)
   PUBMED   37170076
  REMARK    GeneRIF: Peri-ictal EEG in infants with PRRT2-related self-limited
            infantile epilepsy.
REFERENCE   3  (bases 1 to 3051)
  AUTHORS   Sterlini,B., Franchi,F., Morinelli,L., Corradi,B., Parodi,C.,
            Albini,M., Bianchi,A., Marte,A., Baldelli,P., Alberini,G.,
            Maragliano,L., Valente,P., Benfenati,F. and Corradi,A.
  TITLE     Missense mutations in the membrane domain of PRRT2 affect its
            interaction with Nav1.2 voltage-gated sodium channels
  JOURNAL   Neurobiol Dis 183, 106177 (2023)
   PUBMED   37271286
  REMARK    GeneRIF: Missense mutations in the membrane domain of PRRT2 affect
            its interaction with Nav1.2 voltage-gated sodium channels.
REFERENCE   4  (bases 1 to 3051)
  AUTHORS   Franchi,F., Marte,A., Corradi,B., Sterlini,B., Alberini,G.,
            Romei,A., De Fusco,A., Vogel,A., Maragliano,L., Baldelli,P.,
            Corradi,A., Valente,P. and Benfenati,F.
  TITLE     The intramembrane COOH-terminal domain of PRRT2 regulates
            voltage-dependent Na+ channels
  JOURNAL   J Biol Chem 299 (5), 104632 (2023)
   PUBMED   36958475
  REMARK    GeneRIF: The intramembrane COOH-terminal domain of PRRT2 regulates
            voltage-dependent Na[+] channels.
REFERENCE   5  (bases 1 to 3051)
  AUTHORS   Tomita,Ha., Nagamitsu,S., Wakui,K., Fukushima,Y., Yamada,K.,
            Sadamatsu,M., Masui,A., Konishi,T., Matsuishi,T., Aihara,M.,
            Shimizu,K., Hashimoto,K., Mineta,M., Matsushima,M., Tsujita,T.,
            Saito,M., Tanaka,H., Tsuji,S., Takagi,T., Nakamura,Y., Nanko,S.,
            Kato,N., Nakane,Y. and Niikawa,N.
  TITLE     Paroxysmal kinesigenic choreoathetosis locus maps to chromosome
            16p11.2-q12.1
  JOURNAL   Am J Hum Genet 65 (6), 1688-1697 (1999)
   PUBMED   10577923
REFERENCE   6  (bases 1 to 3051)
  AUTHORS   Lee,W.L., Tay,A., Ong,H.T., Goh,L.M., Monaco,A.P. and
            Szepetowski,P.
  TITLE     Association of infantile convulsions with paroxysmal dyskinesias
            (ICCA syndrome): confirmation of linkage to human chromosome
            16p12-q12 in a Chinese family
  JOURNAL   Hum Genet 103 (5), 608-612 (1998)
   PUBMED   9860304
REFERENCE   7  (bases 1 to 3051)
  AUTHORS   Szepetowski,P., Rochette,J., Berquin,P., Piussan,C., Lathrop,G.M.
            and Monaco,A.P.
  TITLE     Familial infantile convulsions and paroxysmal choreoathetosis: a
            new neurological syndrome linked to the pericentromeric region of
            human chromosome 16
  JOURNAL   Am J Hum Genet 61 (4), 889-898 (1997)
   PUBMED   9382100
REFERENCE   8  (bases 1 to 3051)
  AUTHORS   Yang,K., Quiroz,V. and Ebrahimi-Fakhari,D.
  TITLE     PRRT2-Related Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29334453
REFERENCE   9  (bases 1 to 3051)
  AUTHORS   Spacey,S. and Adams,P.
  TITLE     Familial Paroxysmal Kinesigenic Dyskinesia - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301633
REFERENCE   10 (bases 1 to 3051)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009133.7.
            
            On May 31, 2019 this sequence version replaced NM_001256443.1.
            
            Summary: This gene encodes a transmembrane protein containing a
            proline-rich domain in its N-terminal half. Studies in mice suggest
            that it is predominantly expressed in brain and spinal cord in
            embryonic and postnatal stages. Mutations in this gene are
            associated with episodic kinesigenic dyskinesia-1. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (3) differs at the 3' end compared
            to variant 1, and encodes a shorter isoform (2) with 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 :: AK092265.1, SRR1803611.349630.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-159               AC009133.7         53038-53196         c
            160-3051            AC009133.7         49508-52399         c
FEATURES             Location/Qualifiers
     source          1..3051
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..3051
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /note="proline rich transmembrane protein 2"
                     /db_xref="GeneID:112476"
                     /db_xref="HGNC:HGNC:30500"
                     /db_xref="MIM:614386"
     exon            1..159
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /inference="alignment:Splign:2.1.0"
     exon            160..3051
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /inference="alignment:Splign:2.1.0"
     CDS             225..1124
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /note="isoform 3 is encoded by transcript variant 3;
                     interferon induced transmembrane protein domain containing
                     1; dispanin subfamily B member 3; infantile convulsions
                     and paroxysmal choreoathetosis; dystonia 10; Benign
                     familial infantile convulsions-2; Paroxysmal kinesigenic
                     dyskinesia"
                     /codon_start=1
                     /product="proline-rich transmembrane protein 2 isoform 3"
                     /protein_id="NP_001243372.1"
                     /db_xref="CCDS:CCDS58446.1"
                     /db_xref="GeneID:112476"
                     /db_xref="HGNC:HGNC:30500"
                     /db_xref="MIM:614386"
                     /translation="MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQ
                     PEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASETAQATDLSLSPGGESKANCSPE
                     DPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
                     PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRV
                     LQQLVEEDRMRRAHSGHPGSPRGSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSC
                     FCPMWPVNIVAFAYAVMVSPMGP"
     regulatory      3030..3035
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /note="hexamer: AATAAA"
     polyA_site      3051
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /note="major polyA site"
ORIGIN      
        1 gagcacacgg gagaggagaa gagggagacc cgccgcctcc ctccctccct agctgacttg
       61 ctccctcccg ggctgcggct gctgcaaaag ccagcagcgg cagcgggagc tgtccggagg
      121 ccggcgtcga ggtgagaccc gggcagactg aggctgcggg gtttgccgct gtctctgcta
      181 ttccatcctc cccatagggg ctctctcccc tctcccatct caagatggca gccagcagct
      241 ctgagatctc tgagatgaag ggggttgagg agagtcccaa ggttccaggc gaagggcctg
      301 gccattctga agctgaaact ggccctcccc aggtcctagc aggggtacca gaccagccag
      361 aggccccgca gccaggtcca aacaccactg cggcccctgt ggactcaggg cccaaggctg
      421 ggctggctcc agaaaccaca gagaccccgg ctggggcctc agaaacagcc caggccacag
      481 acctcagctt aagcccagga ggggaatcaa aggccaactg cagccccgaa gacccatgcc
      541 aagaaacagt gtccaaacca gaagtgagca aagaggccac tgcagaccag gggtccaggc
      601 tggagtctgc agccccacct gaaccagccc cagagcctgc tccccaacca gacccccggc
      661 cagattccca gcctaccccc aagccagccc ttcaaccaga gctccctacc caggaggacc
      721 ccacccctga gattctgtct gagagtgtag gggaaaagca agagaatggg gcagtggtgc
      781 ccctgcaggc tggtgatggg gaagagggcc cagcccctga gcctcactca ccaccctcaa
      841 aaaaatcccc cccagccaat ggggcccccc cccgagtgct gcagcagctg gttgaggagg
      901 atcgaatgag aagggcacac agtgggcatc caggatctcc ccgaggtagc ctgagccgcc
      961 accccagctc ccagttggca ggtcctgggg tggagggggg tgaaggcacc cagaaacctc
     1021 gggactacat catccttgcc atcctgtcct gcttctgccc catgtggcct gtcaacatcg
     1081 tggccttcgc ttatgctgtc atggtgagcc ccatgggacc ctagcccagg cctgctgtgg
     1141 ctcccagctt cccgccagcg ctgcaataga gcctctggag taatcatgcc ttccttcccc
     1201 tctcctctct gcatggatcc cacctcccca attccagggc ctttgtttgc ctctccctag
     1261 gacctaaccc tctgagccac cactgccctg cccctttggg tgggagggat atggaaacac
     1321 gtgtcacaca gcctcgctga cctgtgccct cctccccctg ccccttcact cctccttcct
     1381 cccttacccg ccatctatgg ggctggcctc tctctcttct ggatgacttt tccacctgat
     1441 cccttctggg ctggcttctc ctgaccccgg ctatgtgcct ccacccctcg ccctaacccc
     1501 agtcccggaa cagcctgcag cagggggacg tggacggggc ccagcgtctg ggccgggtag
     1561 ccaagctctt aagcatcgtg gcgctggtgg ggggagtcct catcatcatc gcctcctgcg
     1621 tcatcaactt aggcggtgag tgggggcttg ggacaggcag gggaggaatg gaagggttgg
     1681 caagggcagc tttactaacc cctgcccctg ctctctcctg tctgtcctcc ttacctctcc
     1741 tttgtctctc cttgtctccc cctccccccg tctgtccttc cctctcctct cccacagtgt
     1801 ataagtgagg ggctctgccc cgcatcccaa gacttttctt cctgttggga gctgccttgg
     1861 gcccatccct cccctggggg gagcccaact gatggccctg gcccccaccc ctaaggacca
     1921 agggagcctg agcggccttg tttacagctt ctgtcctgct cctgcatctt gccaggctcc
     1981 tctgccaact gtaggcctgc ctcatccctg cactggttcc aacctccctg cactaatgcc
     2041 tgcatcccct ccggcctctt ggccccctat ccctgcactt ctggaaacct ccctgcactc
     2101 tggaaacctc cctgaacacc tccccaactc tgcgctctca gcctccctgc atctctcctg
     2161 gcctccctgc acttcttcca gccccccaaa ttctctggac ctccaccctg gccgcctcct
     2221 cccaactttc attgtcttgg catctctcaa ccctcagtcc tctcttcctt cccttcttta
     2281 tcatctcccc tttcctctcc acgtcccgcc cccttcctct tcctgcctcc tcatctccct
     2341 taagcatcct cttctccaac ctcccgtcac cgtttactct gcaaaattga cagcacttag
     2401 acgaggcttg ggggcaggga gcagtgttgg gagagggctc cccaacccca ggctcggact
     2461 gttctctgct gggaccaccc agggtcggac acccaagggt gcctggcagg tcgcagagtt
     2521 ggcaagccgg gcctcgtatg gggactcggg tgagggtggc gagtactggt tccgaacgca
     2581 cgcaggggag aagggaggga cgcggcgctg acccttccag gtcagctgga gttgacccgc
     2641 ccacctgggc ttttcaaccc cagtccgcga gtttctttct tgaaggtgtg ggggctagat
     2701 tcattcacgt gcttcgtaat gaaataatcc aaaaaatagg accaaagcgc ccactggcag
     2761 gagcgagggc ggggcgccgc gctctataat tattttctaa gatgatgggg gaggtttgtt
     2821 gcacgcgaca gcccgctgag gaggcgggga ccgagctaca acgcggttcg gatttggcgg
     2881 gggttttttt ccttaaaaaa aaaaaaaaaa aaaaaaaaaa agtctggggg aagaaaaaaa
     2941 ctaaaattct taaaaaaaaa aaaaaaaggc tattatcaaa ctgatttctc cctttttgta
     3001 tgccggatgc tgcatgagtc tgaaacacca ataaacggag actgcatgag a
//
