LOCUS       NM_001040142            8776 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens sodium voltage-gated channel alpha subunit 2 (SCN2A),
            transcript variant 2, mRNA.
ACCESSION   NM_001040142
VERSION     NM_001040142.2
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 8776)
  AUTHORS   Eltokhi,A., Lundstrom,B.N., Li,J., Zweifel,L.S., Catterall,W.A. and
            Gamal El-Din,T.M.
  TITLE     Pathogenic gating pore current conducted by autism-related
            mutations in the NaV1.2 brain sodium channel
  JOURNAL   Proc Natl Acad Sci U S A 121 (15), e2317769121 (2024)
   PUBMED   38564633
  REMARK    GeneRIF: Pathogenic gating pore current conducted by autism-related
            mutations in the NaV1.2 brain sodium channel.
REFERENCE   2  (bases 1 to 8776)
  AUTHORS   Mao,M., Mattei,C., Rollo,B., Byars,S., Cuddy,C., Berecki,G.,
            Heighway,J., Pachernegg,S., Menheniott,T., Apted,D., Jia,L.,
            Dalby,K., Nemiroff,A., Mullen,S., Reid,C.A., Maljevic,S. and
            Petrou,S.
  TITLE     Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From
            Patients With Gain- and Loss-of-Function SCN2A Developmental and
            Epileptic Encephalopathy
  JOURNAL   J Neurosci 44 (8), e0692232023 (2024)
   PUBMED   38148154
  REMARK    GeneRIF: Distinctive In Vitro Phenotypes in iPSC-Derived Neurons
            From Patients With Gain- and Loss-of-Function SCN2A Developmental
            and Epileptic Encephalopathy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8776)
  AUTHORS   Panagiotakaki,E., Tiziano,F.D., Mikati,M.A., Vijfhuizen,L.S.,
            Nicole,S., Lesca,G., Abiusi,E., Novelli,A., Di Pietro,L.,
            Harder,A.V.E., Walley,N.M., De Grandis,E., Poulat,A.L.,
            Portes,V.D., Lepine,A., Nassogne,M.C., Arzimanoglou,A.,
            Vavassori,R., Koenderink,J., Thompson,C.H., George,A.L. Jr.,
            Gurrieri,F., van den Maagdenberg,A.M.J.M. and Heinzen,E.L.
  CONSRTM   I.B.AHC Consortium; IAHCRC Consortium
  TITLE     Exome sequencing of ATP1A3-negative cases of alternating hemiplegia
            of childhood reveals SCN2A as a novel causative gene
  JOURNAL   Eur J Hum Genet 32 (2), 224-231 (2024)
   PUBMED   38097767
  REMARK    GeneRIF: Exome sequencing of ATP1A3-negative cases of alternating
            hemiplegia of childhood reveals SCN2A as a novel causative gene.
REFERENCE   4  (bases 1 to 8776)
  AUTHORS   Thompson,C.H., Potet,F., Abramova,T.V., DeKeyser,J.M., Ghabra,N.F.,
            Vanoye,C.G., Millichap,J.J. and George,A.L.
  TITLE     Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and
            complex functional properties
  JOURNAL   J Gen Physiol 155 (10) (2023)
   PUBMED   37578743
  REMARK    GeneRIF: Epilepsy-associated SCN2A (NaV1.2) variants exhibit
            diverse and complex functional properties.
REFERENCE   5  (bases 1 to 8776)
  AUTHORS   Sanders,S.J., Murtha,M.T., Gupta,A.R., Murdoch,J.D., Raubeson,M.J.,
            Willsey,A.J., Ercan-Sencicek,A.G., DiLullo,N.M., Parikshak,N.N.,
            Stein,J.L., Walker,M.F., Ober,G.T., Teran,N.A., Song,Y.,
            El-Fishawy,P., Murtha,R.C., Choi,M., Overton,J.D., Bjornson,R.D.,
            Carriero,N.J., Meyer,K.A., Bilguvar,K., Mane,S.M., Sestan,N.,
            Lifton,R.P., Gunel,M., Roeder,K., Geschwind,D.H., Devlin,B. and
            State,M.W.
  TITLE     De novo mutations revealed by whole-exome sequencing are strongly
            associated with autism
  JOURNAL   Nature 485 (7397), 237-241 (2012)
   PUBMED   22495306
  REMARK    GeneRIF: association of the gene SCN2A, previously identified in
            epilepsy syndromes, with the risk of autism
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 8776)
  AUTHORS   Martin,M.S., Tang,B., Ta,N. and Escayg,A.
  TITLE     Characterization of 5' untranslated regions of the voltage-gated
            sodium channels SCN1A, SCN2A, and SCN3A and identification of
            cis-conserved noncoding sequences
  JOURNAL   Genomics 90 (2), 225-235 (2007)
   PUBMED   17544618
  REMARK    GeneRIF: Characterization of 5' untranslated regions SCN2A, and
            identification of cis-conserved noncoding sequences
REFERENCE   7  (bases 1 to 8776)
  AUTHORS   Ahmed,C.M., Ware,D.H., Lee,S.C., Patten,C.D., Ferrer-Montiel,A.V.,
            Schinder,A.F., McPherson,J.D., Wagner-McPherson,C.B., Wasmuth,J.J.,
            Evans,G.A. et al.
  TITLE     Primary structure, chromosomal localization, and functional
            expression of a voltage-gated sodium channel from human brain
  JOURNAL   Proc Natl Acad Sci U S A 89 (17), 8220-8224 (1992)
   PUBMED   1325650
REFERENCE   8  (bases 1 to 8776)
  AUTHORS   Lu,C.M., Han,J., Rado,T.A. and Brown,G.B.
  TITLE     Differential expression of two sodium channel subtypes in human
            brain
  JOURNAL   FEBS Lett 303 (1), 53-58 (1992)
   PUBMED   1317301
REFERENCE   9  (bases 1 to 8776)
  AUTHORS   Han,J.A., Lu,C.M., Brown,G.B. and Rado,T.A.
  TITLE     Direct amplification of a single dissected chromosomal segment by
            polymerase chain reaction: a human brain sodium channel gene is on
            chromosome 2q22-q23
  JOURNAL   Proc Natl Acad Sci U S A 88 (2), 335-339 (1991)
   PUBMED   1846440
REFERENCE   10 (bases 1 to 8776)
  AUTHORS   Litt,M., Luty,J., Kwak,M., Allen,L., Magenis,R.E. and Mandel,G.
  TITLE     Localization of a human brain sodium channel gene (SCN2A) to
            chromosome 2
  JOURNAL   Genomics 5 (2), 204-208 (1989)
   PUBMED   2571571
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP199510.1, M94055.1,
            BP311214.1, DA232976.1, AC011303.9 and BU729783.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001040142.1.
            
            Summary: Voltage-gated sodium channels are transmembrane
            glycoprotein complexes composed of a large alpha subunit with four
            repeat domains, each of which is composed of six membrane-spanning
            segments, and one or more regulatory beta subunits. Voltage-gated
            sodium channels function in the generation and propagation of
            action potentials in neurons and muscle. This gene encodes one
            member of the sodium channel alpha subunit gene family. Allelic
            variants of this gene are associated with seizure disorders and
            autism spectrum disorder. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Nov 2016].
            
            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 :: SRR1660809.92030.1,
                                           SRR1660809.188485.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375437.7/ ENSP00000364586.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-570               BP199510.1         13-582
            571-1848            M94055.1           398-1675
            1849-2034           BP311214.1         319-504
            2035-4251           M94055.1           1862-4078
            4252-4662           DA232976.1         154-564
            4663-5579           M94055.1           4490-5406
            5580-8246           AC011303.9         117675-120341
            8247-8776           BU729783.1         23-552              c
FEATURES             Location/Qualifiers
     source          1..8776
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.3"
     gene            1..8776
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /note="sodium voltage-gated channel alpha subunit 2"
                     /db_xref="GeneID:6326"
                     /db_xref="HGNC:HGNC:10588"
                     /db_xref="MIM:182390"
     exon            1..227
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            228..545
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             279..6296
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /note="isoform 1 is encoded by transcript variant 2;
                     sodium channel, voltage-gated, type II, alpha 2
                     polypeptide; sodium channel, voltage-gated, type II, alpha
                     1 polypeptide; sodium channel protein, brain type 2 alpha
                     subunit; voltage-gated sodium channel subtype II; sodium
                     channel protein type II subunit alpha; sodium channel
                     protein brain II subunit alpha; voltage-gated sodium
                     channel subunit alpha Nav1.2; sodium channel,
                     voltage-gated, type II, alpha subunit; voltage-gated
                     sodium channel type II alpha subunit"
                     /codon_start=1
                     /product="sodium channel protein type 2 subunit alpha
                     isoform 1"
                     /protein_id="NP_001035232.1"
                     /db_xref="CCDS:CCDS33314.1"
                     /db_xref="GeneID:6326"
                     /db_xref="HGNC:HGNC:10588"
                     /db_xref="MIM:182390"
                     /translation="MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDE
                     DDENGPKPNSDLEAGKSLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISR
                     FSATPALYILTPFNPIRKLAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEY
                     TFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRT
                     FRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRN
                     KCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQND
                     ALLCGNSSDAGQCPEGYICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQL
                     TLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQML
                     EQLKKQQEEAQAAAAAASAESRDFSGAGGIGVFSESSSVASKLSSKSEKELKNRRKKK
                     KQKEQSGEEEKNDRVRKSESEDSIRRKGFRFSLEGSRLTYEKRFSSPHQSLLSIRGSL
                     FSPRRNSRASLFSFRGRAKDIGSENDFADDEHSTFEDNDSRRDSLFVPHRHGERRHSN
                     VSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGPSTLTSAGQLLPEGTTTETEIRK
                     RRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEESRQKCPPCWYKFANMCLIWD
                     CCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSVGNLVF
                     TGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGLANVEGLSVLRSFRLLR
                     VFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKI
                     SNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCLTVFMMVMVIGNL
                     VVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRKIREFIQKAFV
                     RKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGSSVEKYVVD
                     ESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSSSEGSTV
                     DIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKTCYKI
                     VEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWV
                     AYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRF
                     EGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVS
                     VVNNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRN
                     VELQPKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQ
                     KKYYNAMKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVET
                     DDQSQEMTNILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMF
                     LAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLF
                     LVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNS
                     GPPDCDPDKDHPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATE
                     ESAEPLSEDDFEMFYEVWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAM
                     DLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTL
                     KRKQEEVSAIIIQRAYRRYLLKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENS
                     TPEKTDMTPSTTSPPSYDSVTKPEKEKFEKDKSEKEDKGKDIRESKK"
     exon            546..664
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            665..754
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            755..883
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            884..975
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1248
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1312
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1454
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1661
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..1949
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1950..2294
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            2295..2427
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            2428..2666
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            2667..2840
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            2841..3197
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            3198..3677
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            3678..3798
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            3799..3953
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            3954..4127
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            4128..4250
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            4251..4532
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            4533..4586
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            4587..4724
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            4725..4829
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            4830..5100
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     exon            5101..8776
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      8378..8383
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /note="hexamer: AATAAA"
     polyA_site      8403
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /note="major polyA site"
     regulatory      8494..8499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /note="hexamer: AATAAA"
     polyA_site      8525
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /note="major polyA site"
     regulatory      8758..8763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /note="hexamer: AATAAA"
     polyA_site      8776
                     /gene="SCN2A"
                     /gene_synonym="BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11;
                     HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1;
                     SCN2A2"
                     /note="major polyA site"
ORIGIN      
        1 aacagacatt gggtaccatc gaatgactgt cagaacagaa agctaaggca aaggagggag
       61 gatgctgtgg tcatcctttc ttgttttttt cttctttaat gaggatagag cacatgtgag
      121 attttacttt ctactccagt aaaaattctg aagaattgca ttggagactg ttatattcaa
      181 cacatacgtg gattctgtgt tatgatttac atttttcttt atttcagcac tttcttatgc
      241 aaggagctaa acagtgatta aaggagcagg atgaaaagat ggcacagtca gtgctggtac
      301 cgccaggacc tgacagcttc cgcttcttta ccagggaatc ccttgctgct attgaacaac
      361 gcattgcaga agagaaagct aagagaccca aacaggaacg caaggatgag gatgatgaaa
      421 atggcccaaa gccaaacagt gacttggaag caggaaaatc tcttccattt atttatggag
      481 acattcctcc agagatggtg tcagtgcccc tggaggatct ggacccctac tatatcaata
      541 agaaaacgtt tatagtattg aataaaggga aagcaatctc tcgattcagt gccacccctg
      601 ccctttacat tttaactccc ttcaacccta ttagaaaatt agctattaag attttggtac
      661 attctttatt caatatgctc attatgtgca cgattcttac caactgtgta tttatgacca
      721 tgagtaaccc tccagactgg acaaagaatg tggagtatac ctttacagga atttatactt
      781 ttgaatcact tattaaaata cttgcaaggg gcttttgttt agaagatttc acatttttac
      841 gggatccatg gaattggttg gatttcacag tcattacttt tgcatatgtg acagagtttg
      901 tggacctggg caatgtctca gcgttgagaa cattcagagt tctccgagca ttgaaaacaa
      961 tttcagtcat tccaggcctg aagaccattg tgggggccct gatccagtca gtgaagaagc
     1021 tttctgatgt catgatcttg actgtgttct gtctaagcgt gtttgcgcta ataggattgc
     1081 agttgttcat gggcaaccta cgaaataaat gtttgcaatg gcctccagat aattcttcct
     1141 ttgaaataaa tatcacttcc ttctttaaca attcattgga tgggaatggt actactttca
     1201 ataggacagt gagcatattt aactgggatg aatatattga ggataaaagt cacttttatt
     1261 ttttagaggg gcaaaatgat gctctgcttt gtggcaacag ctcagatgca ggccagtgtc
     1321 ctgaaggata catctgtgtg aaggctggta gaaaccccaa ctatggctac acgagctttg
     1381 acacctttag ttgggccttt ttgtccttat ttcgtctcat gactcaagac ttctgggaaa
     1441 acctttatca actgacacta cgtgctgctg ggaaaacgta catgatattt tttgtgctgg
     1501 tcattttctt gggctcattc tatctaataa atttgatctt ggctgtggtg gccatggcct
     1561 atgaggaaca gaatcaggcc acattggaag aggctgaaca gaaggaagct gaatttcagc
     1621 agatgctcga acagttgaaa aagcaacaag aagaagctca ggcggcagct gcagccgcat
     1681 ctgctgaatc aagagacttc agtggtgctg gtgggatagg agttttttca gagagttctt
     1741 cagtagcatc taagttgagc tccaaaagtg aaaaagagct gaaaaacaga agaaagaaaa
     1801 agaaacagaa agaacagtct ggagaagaag agaaaaatga cagagtccga aaatcggaat
     1861 ctgaagacag cataagaaga aaaggtttcc gtttttcctt ggaaggaagt aggctgacat
     1921 atgaaaagag attttcttct ccacaccagt ccttactgag catccgtggc tcccttttct
     1981 ctccaagacg caacagtagg gcgagccttt tcagcttcag aggtcgagca aaggacattg
     2041 gctctgagaa tgactttgct gatgatgagc acagcacctt tgaggacaat gacagccgaa
     2101 gagactctct gttcgtgccg cacagacatg gagaacggcg ccacagcaat gtcagccagg
     2161 ccagccgtgc ctccagggtg ctccccatcc tgcccatgaa tgggaagatg catagcgctg
     2221 tggactgcaa tggtgtggtc tccctggtcg ggggcccttc taccctcaca tctgctgggc
     2281 agctcctacc agagggcaca actactgaaa cagaaataag aaagagacgg tccagttctt
     2341 atcatgtttc catggattta ttggaagatc ctacatcaag gcaaagagca atgagtatag
     2401 ccagtatttt gaccaacacc atggaagaac ttgaagaatc cagacagaaa tgcccaccat
     2461 gctggtataa atttgctaat atgtgtttga tttgggactg ttgtaaacca tggttaaagg
     2521 tgaaacacct tgtcaacctg gttgtaatgg acccatttgt tgacctggcc atcaccatct
     2581 gcattgtctt aaatacactc ttcatggcta tggagcacta tcccatgacg gagcagttca
     2641 gcagtgtact gtctgttgga aacctggtct tcacagggat cttcacagca gaaatgtttc
     2701 tcaagataat tgccatggat ccatattatt actttcaaga aggctggaat atttttgatg
     2761 gttttattgt gagccttagt ttaatggaac ttggtttggc aaatgtggaa ggattgtcag
     2821 ttctccgatc attccggctg ctccgagttt tcaagttggc aaaatcttgg ccaactctaa
     2881 atatgctaat taagatcatt ggcaattctg tgggggctct aggaaacctc accttggtat
     2941 tggccatcat cgtcttcatt tttgctgtgg tcggcatgca gctctttggt aagagctaca
     3001 aagaatgtgt ctgcaagatt tccaatgatt gtgaactccc acgctggcac atgcatgact
     3061 ttttccactc cttcctgatc gtgttccgcg tgctgtgtgg agagtggata gagaccatgt
     3121 gggactgtat ggaggtcgct ggccaaacca tgtgccttac tgtcttcatg atggtcatgg
     3181 tgattggaaa tctagtggtt ctgaacctct tcttggcctt gcttttgagt tccttcagtt
     3241 ctgacaatct tgctgccact gatgatgata acgaaatgaa taatctccag attgctgtgg
     3301 gaaggatgca gaaaggaatc gattttgtta aaagaaaaat acgtgaattt attcagaaag
     3361 cctttgttag gaagcagaaa gctttagatg aaattaaacc gcttgaagat ctaaataata
     3421 aaaaagacag ctgtatttcc aaccatacca ccatagaaat aggcaaagac ctcaattatc
     3481 tcaaagacgg aaatggaact actagtggca taggcagcag tgtagaaaaa tatgtcgtgg
     3541 atgaaagtga ttacatgtca tttataaaca accctagcct cactgtgaca gtaccaattg
     3601 ctgttggaga atctgacttt gaaaatttaa atactgaaga attcagcagc gagtcagata
     3661 tggaggaaag caaagagaag ctaaatgcaa ctagttcatc tgaaggcagc acggttgata
     3721 ttggagctcc cgccgaggga gaacagcctg aggttgaacc tgaggaatcc cttgaacctg
     3781 aagcctgttt tacagaagac tgtgtacgga agttcaagtg ttgtcagata agcatagaag
     3841 aaggcaaagg gaaactctgg tggaatttga ggaaaacatg ctataagata gtggagcaca
     3901 attggttcga aaccttcatt gtcttcatga ttctgctgag cagtggggct ctggcctttg
     3961 aagatatata cattgagcag cgaaaaacca ttaagaccat gttagaatat gctgacaagg
     4021 ttttcactta catattcatt ctggaaatgc tgctaaagtg ggttgcatat ggttttcaag
     4081 tgtattttac caatgcctgg tgctggctag acttcctgat tgttgatgtc tcactggtta
     4141 gcttaactgc aaatgccttg ggttactcag aacttggtgc catcaaatcc ctcagaacac
     4201 taagagctct gaggccactg agagctttgt cccggtttga aggaatgagg gttgttgtaa
     4261 atgctctttt aggagccatt ccatctatca tgaatgtact tctggtttgt ctgatctttt
     4321 ggctaatatt cagtatcatg ggagtgaatc tctttgctgg caagttttac cattgtatta
     4381 attacaccac tggagagatg tttgatgtaa gcgtggtcaa caactacagt gagtgcaaag
     4441 ctctcattga gagcaatcaa actgccaggt ggaaaaatgt gaaagtaaac tttgataacg
     4501 taggacttgg atatctgtct ctacttcaag tagccacgtt taagggatgg atggatatta
     4561 tgtatgcagc tgttgattca cgaaatgtag aattacaacc caagtatgaa gacaacctgt
     4621 acatgtatct ttattttgtc atctttatta tttttggttc attctttacc ttgaatcttt
     4681 tcattggtgt catcatagat aacttcaacc aacagaaaaa gaagtttgga ggtcaagaca
     4741 tttttatgac agaagaacag aagaaatact acaatgcaat gaaaaaactg ggttcaaaga
     4801 aaccacaaaa acccatacct cgacctgcta acaaattcca aggaatggtc tttgattttg
     4861 taaccaaaca agtctttgat atcagcatca tgatcctcat ctgccttaac atggtcacca
     4921 tgatggtgga aaccgatgac cagagtcaag aaatgacaaa cattctgtac tggattaatc
     4981 tggtgtttat tgttctgttc actggagaat gtgtgctgaa actgatctct cttcgttact
     5041 actatttcac tattggatgg aatatttttg attttgtggt ggtcattctc tccattgtag
     5101 gaatgtttct ggctgaactg atagaaaagt attttgtgtc ccctaccctg ttccgagtga
     5161 tccgtcttgc caggattggc cgaatcctac gtctgatcaa aggagcaaag gggatccgca
     5221 cgctgctctt tgctttgatg atgtcccttc ctgcgttgtt taacatcggc ctccttcttt
     5281 tcctggtcat gttcatctac gccatctttg ggatgtccaa ttttgcctat gttaagaggg
     5341 aagttgggat cgatgacatg ttcaactttg agacctttgg caacagcatg atctgcctgt
     5401 tccaaattac aacctctgct ggctgggatg gattgctagc acctattctt aatagtggac
     5461 ctccagactg tgaccctgac aaagatcacc ctggaagctc agttaaagga gactgtggga
     5521 acccatctgt tgggattttc ttttttgtca gttacatcat catatccttc ctggttgtgg
     5581 tgaacatgta catcgcggtc atcctggaga acttcagtgt tgctactgaa gaaagtgcag
     5641 agcctctgag tgaggatgac tttgagatgt tctatgaggt ttgggagaag tttgatcccg
     5701 atgcgaccca gtttatagag tttgccaaac tttctgattt tgcagatgcc ctggatcctc
     5761 ctcttctcat agcaaaaccc aacaaagtcc agctcattgc catggatctg cccatggtga
     5821 gtggtgaccg gatccactgt cttgacatct tatttgcttt tacaaagcgt gttttgggtg
     5881 agagtggaga gatggatgcc cttcgaatac agatggaaga gcgattcatg gcatcaaacc
     5941 cctccaaagt ctcttatgag cccattacga ccacgttgaa acgcaaacaa gaggaggtgt
     6001 ctgctattat tatccagagg gcttacagac gctacctctt gaagcaaaaa gttaaaaagg
     6061 tatcaagtat atacaagaaa gacaaaggca aagaatgtga tggaacaccc atcaaagaag
     6121 atactctcat tgataaactg aatgagaatt caactccaga gaaaaccgat atgacgcctt
     6181 ccaccacgtc tccaccctcg tatgatagtg tgaccaaacc agaaaaagaa aaatttgaaa
     6241 aagacaaatc agaaaaggaa gacaaaggga aagatatcag ggaaagtaaa aagtaaaaag
     6301 aaaccaagaa ttttccattt tgtgatcaat tgtttacagc ccgtgatggt gatgtgtttg
     6361 tgtcaacagg actcccacag gaggtctatg ccaaactgac tgtttttaca aatgtatact
     6421 taaggtcagt gcctataaca agacagagac ctctggtcag caaactggaa ctcagtaaac
     6481 tggagaaata gtatcgatgg gaggtttcta ttttcacaac cagctgacac tgctgaagag
     6541 cagaggcgta atggctactc agacgatagg aaccaattta aaggggggag ggaagttaaa
     6601 tttttatgta aattcaacat gtgacacttg ataatagtaa ttgtcaccag tgtttatgtt
     6661 ttaactgcca cacctgccat atttttacaa aacgtgtgct gtgaatttat cacttttctt
     6721 tttaattcac aggttgttta ctattatatg tgactatttt tgtaaatggg tttgtgtttg
     6781 gggagaggga ttaaagggag ggaattctac atttctctat tgtattgtat aactggatat
     6841 attttaaatg gaggcatgct gcaattctca ttcacacata aaaaaatcac atcacaaaag
     6901 ggaagagttt acttcttgtt tcaggatgtt tttagatttt tgaggtgctt aaatagctat
     6961 tcgtattttt aaggtgtctc atccagaaaa aatttaatgt gcctgtaaat gttccataga
     7021 atcacaagca ttaaagagtt gttttatttt tacataaccc attaaatgta catgtatata
     7081 tgtatatatg tatatgtgcg tgtatataca tatatatgta tacacacatg cacacacaga
     7141 gatatacaca taccattaca ttgtcattca cagtcccagc agcatgacta tcacattttt
     7201 gataagtgtc ctttggcata aaataaaaat atcctatcag tcctttctaa gaagcctgaa
     7261 ttgaccaaaa aacatcccca ccaccacttt ataaagttga ttctgcttta tcctgcagta
     7321 ttgtttagcc atcttctgct cttggtaagg ttgacatagt atatgtcaat ttaaaaaata
     7381 aaagtctgct ttgtaaatag taattttacc cagtggtgca tgtttgagca aacaaaaatg
     7441 atgatttaag cacactactt attgcatcaa atatgtacca cagtaagtat agtttgcaag
     7501 ctttcaacag gtaatatgat gtaattggtt ccattatagt ttgaagctgt cactgctgca
     7561 tgtttatctt gcctatgctg ctgtatctta ttccttccac tgttcagaag tctaatatgg
     7621 gaagccatat atcagtggta aagtgaagca aattgttcta ccaagacctc attcttcatg
     7681 tcattaagca ataggttgca gcaaacaagg aagagcttct tgctttttat tcttccaacc
     7741 ttaattgaac actcaatgat gaaaagcccg actgtacaaa catgttgcaa gctgcttaaa
     7801 tctgtttaaa atatatggtt agagttttct aagaaaatat aaatactgta aaaagttcat
     7861 tttattttat ttttcagcct tttgtacgta aaatgagaaa ttaaaagtat cttcaggtgg
     7921 atgtcacagt cactattgtt agtttctgtt cctagcactt ttaaattgaa gcacttcaca
     7981 aaataagaag caaggactag gatgcagtgt aggtttctgc ttttttatta gtactgtaaa
     8041 cttgcacaca tttcaatgtg aaacaaatct caaactgagt tcaatgttta tttgctttca
     8101 atagtaatgc cttatcattg aaagaggctt aaagaaaaaa aaaatcagct gatactcttg
     8161 gcattgcttg aatccaatgt ttccacctag tctttttatt cagtaatcat cagtcttttc
     8221 caatgtttgt ttacacagat agatcttatt gacccatatg gcactagaac tgtatcagat
     8281 ataatatggg atcccagctt tttttcctct cccacaaaac caggtagtga agttatatta
     8341 ccagttacag caaaatactt tgtgtttcac aagcaacaat aaatgtagat tctttatact
     8401 gaagctattg acttgtagtg tgttggtgaa atgcatgcag gaaaatgctg ttaccataaa
     8461 gaacggtaaa ccacattaca atcaagccaa aagaataaag gtttcgcttt tgtttttgta
     8521 tttaattgtt gtctttgttt ctatctttga aatgccattt aaaggtagat ttctatcatg
     8581 taaaaataat ctatctgaaa aacaaatgta aagaacacac attaattact ataattcatc
     8641 tttcaatttt ttcatggaat ggaagttaat taagaagagt gtattggata actactttaa
     8701 tattggccaa aaagctagat atggcatcag gtagactagt ggaaagttac aaaaattaat
     8761 aaaaaattga ctaaca
//
