LOCUS       NM_010146               1079 bp    mRNA    linear   ROD 08-FEB-2024
DEFINITION  Mus musculus epilepsy, progressive myoclonic epilepsy, type 2 gene
            alpha (Epm2a), mRNA.
ACCESSION   NM_010146 XM_354581
VERSION     NM_010146.2
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 1079)
  AUTHORS   Burgos,D.F., Sciaccaluga,M., Worby,C.A., Zafra-Puerta,L.,
            Iglesias-Cabeza,N., Sanchez-Martin,G., Prontera,P., Costa,C.,
            Serratosa,J.M. and Sanchez,M.P.
  TITLE     Epm2aR240X knock-in mice present earlier cognitive decline and more
            epileptic activity than Epm2a-/- mice
  JOURNAL   Neurobiol Dis 181, 106119 (2023)
   PUBMED   37059210
  REMARK    GeneRIF: Epm2a[R240X] knock-in mice present earlier cognitive
            decline and more epileptic activity than Epm2a[-/-] mice.
REFERENCE   2  (bases 1 to 1079)
  AUTHORS   Roma-Mateo,C., Lorente-Pozo,S., Marquez-Thibaut,L.,
            Moreno-Estelles,M., Garces,C., Gonzalez,D., Lahuerta,M., Aguado,C.,
            Garcia-Gimenez,J.L., Sanz,P. and Pallardo,F.V.
  TITLE     Age-Related microRNA Overexpression in Lafora Disease Male Mice
            Provides Links between Neuroinflammation and Oxidative Stress
  JOURNAL   Int J Mol Sci 24 (2), 1089 (2023)
   PUBMED   36674605
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1079)
  AUTHORS   Mitra,S., Chen,B., Wang,P., Chown,E.E., Dear,M., Guisso,D.R.,
            Mariam,U., Wu,J., Gumusgoz,E. and Minassian,B.A.
  TITLE     Laforin targets malin to glycogen in Lafora progressive myoclonus
            epilepsy
  JOURNAL   Dis Model Mech 16 (1) (2023)
   PUBMED   36511140
  REMARK    GeneRIF: Laforin targets malin to glycogen in Lafora progressive
            myoclonus epilepsy.
REFERENCE   4  (bases 1 to 1079)
  AUTHORS   Sun,R.C., Young,L.E.A., Bruntz,R.C., Markussen,K.H., Zhou,Z.,
            Conroy,L.R., Hawkinson,T.R., Clarke,H.A., Stanback,A.E.,
            Macedo,J.K.A., Emanuelle,S., Brewer,M.K., Rondon,A.L., Mestas,A.,
            Sanders,W.C., Mahalingan,K.K., Tang,B., Chikwana,V.M.,
            Segvich,D.M., Contreras,C.J., Allenger,E.J., Brainson,C.F.,
            Johnson,L.A., Taylor,R.E., Armstrong,D.D., Shaffer,R.,
            Waechter,C.J., Vander Kooi,C.W., DePaoli-Roach,A.A., Roach,P.J.,
            Hurley,T.D., Drake,R.R. and Gentry,M.S.
  TITLE     Brain glycogen serves as a critical glucosamine cache required for
            protein glycosylation
  JOURNAL   Cell Metab 33 (7), 1404-1417 (2021)
   PUBMED   34043942
REFERENCE   5  (bases 1 to 1079)
  AUTHORS   Burgos,D.F., Cusso,L., Sanchez-Elexpuru,G., Calle,D.,
            Perpinya,M.B., Desco,M., Serratosa,J.M. and Sanchez,M.P.
  TITLE     Structural and Functional Brain Abnormalities in Mouse Models of
            Lafora Disease
  JOURNAL   Int J Mol Sci 21 (20), 7771 (2020)
   PUBMED   33092303
  REMARK    GeneRIF: Structural and Functional Brain Abnormalities in Mouse
            Models of Lafora Disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1079)
  AUTHORS   Ganesh,S., Delgado-Escueta,A.V., Sakamoto,T., Avila,M.R.,
            Machado-Salas,J., Hoshii,Y., Akagi,T., Gomi,H., Suzuki,T.,
            Amano,K., Agarwala,K.L., Hasegawa,Y., Bai,D.S., Ishihara,T.,
            Hashikawa,T., Itohara,S., Cornford,E.M., Niki,H. and Yamakawa,K.
  TITLE     Targeted disruption of the Epm2a gene causes formation of Lafora
            inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and
            impaired behavioral response in mice
  JOURNAL   Hum Mol Genet 11 (11), 1251-1262 (2002)
   PUBMED   12019206
  REMARK    GeneRIF: Targeted disruption of the Epm2a gene causes formation of
            Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus
            epilepsy and impaired behavioral response in mice
REFERENCE   7  (bases 1 to 1079)
  AUTHORS   Ganesh,S., Agarwala,K.L., Amano,K., Suzuki,T., Delgado-Escueta,A.V.
            and Yamakawa,K.
  TITLE     Regional and developmental expression of Epm2a gene and its
            evolutionary conservation
  JOURNAL   Biochem Biophys Res Commun 283 (5), 1046-1053 (2001)
   PUBMED   11355878
REFERENCE   8  (bases 1 to 1079)
  AUTHORS   Ganesh,S., Amano,K., Delgado-Escueta,A.V. and Yamakawa,K.
  TITLE     Isolation and characterization of mouse homologue for the human
            epilepsy gene, EPM2A
  JOURNAL   Biochem Biophys Res Commun 257 (1), 24-28 (1999)
   PUBMED   10092504
REFERENCE   9  (bases 1 to 1079)
  AUTHORS   Guerder,S., Carding,S.R. and Flavell,R.A.
  TITLE     B7 costimulation is necessary for the activation of the lytic
            function in cytotoxic T lymphocyte precursors
  JOURNAL   J Immunol 155 (11), 5167-5174 (1995)
   PUBMED   7594526
REFERENCE   10 (bases 1 to 1079)
  AUTHORS   Geiger,T., Gooding,L.R. and Flavell,R.A.
  TITLE     T-cell responsiveness to an oncogenic peripheral protein and
            spontaneous autoimmunity in transgenic mice
  JOURNAL   Proc Natl Acad Sci U S A 89 (7), 2985-2989 (1992)
   PUBMED   1532662
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY730431.1, CN532498.1 and AC101984.13.
            
            [WARNING] On Mar 12, 2024 this sequence was replaced by
            NM_010146.3.
            
            On Oct 12, 2006 this sequence version replaced NM_010146.1.
            
            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 :: AF124044.1, SRR1660813.23658.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-634               BY730431.1         2-635
            635-1052            CN532498.1         266-683
            1053-1079           AC101984.13        90325-90351         c
FEATURES             Location/Qualifiers
     source          1..1079
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 3.66 cM"
     gene            1..1079
                     /gene="Epm2a"
                     /gene_synonym="TcrbK)TG-BFlv; Tg(TcraK; TG-B"
                     /note="epilepsy, progressive myoclonic epilepsy, type 2
                     gene alpha"
                     /db_xref="GeneID:13853"
                     /db_xref="MGI:MGI:1341085"
     exon            1..324
                     /gene="Epm2a"
                     /gene_synonym="TcrbK)TG-BFlv; Tg(TcraK; TG-B"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1019
                     /gene="Epm2a"
                     /gene_synonym="TcrbK)TG-BFlv; Tg(TcraK; TG-B"
                     /EC_number="3.1.3.16"
                     /EC_number="3.1.3.48"
                     /note="LAFPTPase; lafora PTPase; glucan phosphatase"
                     /codon_start=1
                     /product="laforin"
                     /protein_id="NP_034276.2"
                     /db_xref="CCDS:CCDS23698.1"
                     /db_xref="GeneID:13853"
                     /db_xref="MGI:MGI:1341085"
                     /translation="MLFRFGVVVPPAVAGARQELLLAGSRPELGRWEPHGAVRLRPAG
                     TAAGAAALALQEPGLWLAEVELEAYEEAGGAEPGRVDTFWYKFLQREPGGELHWEGNG
                     PHHDRCCTYNEDNLVDGVYCLPVGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRIL
                     PNIWLGSCPRQLEHVTIKLKHELGVTAVMNFQTEWDIIQNSSGCNRYPEPMTPDTMMK
                     LYKEEGLSYIWMPTPDMSTEGRVQMLPQAVCLLHALLENGHTVYVHCNAGVGRSTAAV
                     CGWLHYVIGWNLRKVQYFIMAKRPAVYIDEDALAQAQQDFSQKFGKVHSSICAL"
     exon            325..499
                     /gene="Epm2a"
                     /gene_synonym="TcrbK)TG-BFlv; Tg(TcraK; TG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            500..741
                     /gene="Epm2a"
                     /gene_synonym="TcrbK)TG-BFlv; Tg(TcraK; TG-B"
                     /inference="alignment:Splign:2.1.0"
     exon            742..1079
                     /gene="Epm2a"
                     /gene_synonym="TcrbK)TG-BFlv; Tg(TcraK; TG-B"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aggctcccag gactcgggcc accgccatgc tcttccgctt cggcgtggtg gtgccgcccg
       61 cggtggccgg cgctcggcag gagctgctgc tcgccggctc gcggcccgag ttagggcgct
      121 gggagccgca cggcgccgtg cgtctcaggc ccgcgggtac cgcggcgggc gccgctgcgc
      181 tggcgctgca ggagcccggc ctgtggctcg ccgaggtgga gctggaggcg tacgaggagg
      241 ccggcggggc ggagccgggc cgcgttgaca cgttctggta caagttcctg cagcgcgagc
      301 ctggaggcga gctgcactgg gaaggaaatg gacctcacca tgaccgttgc tgcacatata
      361 atgaggacaa cttggtggat ggtgtttatt gtctcccagt aggacactgg attgaggcca
      421 ctgggcacac caatgaaatg aagcacacaa cagacttcta ttttaatatt gctggccacc
      481 aagccatgca ctattcaaga attctaccaa atatctggct gggtagctgc cctcgccaac
      541 tggaacatgt gaccatcaaa ctgaagcatg aactgggagt tacagctgtc atgaatttcc
      601 agactgaatg ggatatcatc cagaattctt caggctgcaa ccgctaccct gaacccatga
      661 ctccagacac catgatgaag ctgtataagg aagaaggctt gtcctacatc tggatgccca
      721 ctccagacat gagcactgag ggccgagtgc agatgctgcc acaggctgtg tgtctcctgc
      781 acgcgcttct ggagaatgga cacacggtgt atgtccactg caacgctggc gtgggtcgct
      841 ccacagctgc agtgtgcggc tggctccact atgtgattgg ctggaatctg cgcaaggtgc
      901 agtacttcat catggccaag aggcctgcgg tctacattga cgaggacgct ttggctcaag
      961 cacaacaaga cttttctcag aagttcggga aggttcactc ttccatatgc gctttgtagg
     1021 tgatcagccc tccattccgt ctagctgcct tagtaaggaa cctgggggtg tggttagtg
//
