LOCUS       NM_145239               2462 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens proline rich transmembrane protein 2 (PRRT2),
            transcript variant 1, mRNA.
ACCESSION   NM_145239 XM_005255054
VERSION     NM_145239.3
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 2462)
  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 2462)
  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 2462)
  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 2462)
  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 2462)
  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 2462)
  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 2462)
  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 2462)
  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 2462)
  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 2462)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_145239.2.
            
            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 (1) represents the predominant
            transcript, and encodes 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 :: SRR3476690.278358.1,
                                           SRR3476690.562565.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358758.12/ ENSP00000351608.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-131               AC009133.7         53066-53196         c
            132-1075            AC009133.7         51456-52399         c
            1076-1208           AC009133.7         50924-51056         c
            1209-2462           AC009133.7         49508-50761         c
FEATURES             Location/Qualifiers
     source          1..2462
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2462
                     /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..131
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /inference="alignment:Splign:2.1.0"
     exon            132..1075
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /inference="alignment:Splign:2.1.0"
     CDS             197..1219
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_660282.2"
                     /db_xref="CCDS:CCDS10654.1"
                     /db_xref="GeneID:112476"
                     /db_xref="HGNC:HGNC:30500"
                     /db_xref="MIM:614386"
                     /translation="MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQ
                     PEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASETAQATDLSLSPGGESKANCSPE
                     DPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPEL
                     PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRV
                     LQQLVEEDRMRRAHSGHPGSPRGSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSC
                     FCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVI
                     NLGVYK"
     exon            1076..1208
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /inference="alignment:Splign:2.1.0"
     exon            1209..2462
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2441..2446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRRT2"
                     /gene_synonym="BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA;
                     ICCA; IFITMD1; PKC"
                     /note="hexamer: AATAAA"
     polyA_site      2462
                     /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 gggtttgccg ctgtctctgc tattccatcc tccccatagg ggctctctcc
      181 cctctcccat ctcaagatgg cagccagcag ctctgagatc tctgagatga agggggttga
      241 ggagagtccc aaggttccag gcgaagggcc tggccattct gaagctgaaa ctggccctcc
      301 ccaggtccta gcaggggtac cagaccagcc agaggccccg cagccaggtc caaacaccac
      361 tgcggcccct gtggactcag ggcccaaggc tgggctggct ccagaaacca cagagacccc
      421 ggctggggcc tcagaaacag cccaggccac agacctcagc ttaagcccag gaggggaatc
      481 aaaggccaac tgcagccccg aagacccatg ccaagaaaca gtgtccaaac cagaagtgag
      541 caaagaggcc actgcagacc aggggtccag gctggagtct gcagccccac ctgaaccagc
      601 cccagagcct gctccccaac cagacccccg gccagattcc cagcctaccc ccaagccagc
      661 ccttcaacca gagctcccta cccaggagga ccccacccct gagattctgt ctgagagtgt
      721 aggggaaaag caagagaatg gggcagtggt gcccctgcag gctggtgatg gggaagaggg
      781 cccagcccct gagcctcact caccaccctc aaaaaaatcc cccccagcca atggggcccc
      841 cccccgagtg ctgcagcagc tggttgagga ggatcgaatg agaagggcac acagtgggca
      901 tccaggatct ccccgaggta gcctgagccg ccaccccagc tcccagttgg caggtcctgg
      961 ggtggagggg ggtgaaggca cccagaaacc tcgggactac atcatccttg ccatcctgtc
     1021 ctgcttctgc cccatgtggc ctgtcaacat cgtggccttc gcttatgctg tcatgtcccg
     1081 gaacagcctg cagcaggggg acgtggacgg ggcccagcgt ctgggccggg tagccaagct
     1141 cttaagcatc gtggcgctgg tggggggagt cctcatcatc atcgcctcct gcgtcatcaa
     1201 cttaggcgtg tataagtgag gggctctgcc ccgcatccca agacttttct tcctgttggg
     1261 agctgccttg ggcccatccc tcccctgggg ggagcccaac tgatggccct ggcccccacc
     1321 cctaaggacc aagggagcct gagcggcctt gtttacagct tctgtcctgc tcctgcatct
     1381 tgccaggctc ctctgccaac tgtaggcctg cctcatccct gcactggttc caacctccct
     1441 gcactaatgc ctgcatcccc tccggcctct tggcccccta tccctgcact tctggaaacc
     1501 tccctgcact ctggaaacct ccctgaacac ctccccaact ctgcgctctc agcctccctg
     1561 catctctcct ggcctccctg cacttcttcc agccccccaa attctctgga cctccaccct
     1621 ggccgcctcc tcccaacttt cattgtcttg gcatctctca accctcagtc ctctcttcct
     1681 tcccttcttt atcatctccc ctttcctctc cacgtcccgc ccccttcctc ttcctgcctc
     1741 ctcatctccc ttaagcatcc tcttctccaa cctcccgtca ccgtttactc tgcaaaattg
     1801 acagcactta gacgaggctt gggggcaggg agcagtgttg ggagagggct ccccaacccc
     1861 aggctcggac tgttctctgc tgggaccacc cagggtcgga cacccaaggg tgcctggcag
     1921 gtcgcagagt tggcaagccg ggcctcgtat ggggactcgg gtgagggtgg cgagtactgg
     1981 ttccgaacgc acgcagggga gaagggaggg acgcggcgct gacccttcca ggtcagctgg
     2041 agttgacccg cccacctggg cttttcaacc ccagtccgcg agtttctttc ttgaaggtgt
     2101 gggggctaga ttcattcacg tgcttcgtaa tgaaataatc caaaaaatag gaccaaagcg
     2161 cccactggca ggagcgaggg cggggcgccg cgctctataa ttattttcta agatgatggg
     2221 ggaggtttgt tgcacgcgac agcccgctga ggaggcgggg accgagctac aacgcggttc
     2281 ggatttggcg ggggtttttt tccttaaaaa aaaaaaaaaa aaaaaaaaaa aagtctgggg
     2341 gaagaaaaaa actaaaattc ttaaaaaaaa aaaaaaaagg ctattatcaa actgatttct
     2401 ccctttttgt atgccggatg ctgcatgagt ctgaaacacc aataaacgga gactgcatga
     2461 ga
//
