LOCUS       NM_004588               4937 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens sodium voltage-gated channel beta subunit 2 (SCN2B),
            mRNA.
ACCESSION   NM_004588
VERSION     NM_004588.5
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 4937)
  AUTHORS   Li,Y., Yuan,T., Huang,B., Zhou,F., Peng,C., Li,X., Qiu,Y., Yang,B.,
            Zhao,Y., Huang,Z. and Jiang,D.
  TITLE     Structure of human NaV1.6 channel reveals Na+ selectivity and pore
            blockade by 4,9-anhydro-tetrodotoxin
  JOURNAL   Nat Commun 14 (1), 1030 (2023)
   PUBMED   36823201
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4937)
  AUTHORS   Li,X., Xu,F., Xu,H., Zhang,S., Gao,Y., Zhang,H., Dong,Y., Zheng,Y.,
            Yang,B., Sun,J., Zhang,X.C., Zhao,Y. and Jiang,D.
  TITLE     Structural basis for modulation of human NaV1.3 by clinical drug
            and selective antagonist
  JOURNAL   Nat Commun 13 (1), 1286 (2022)
   PUBMED   35277491
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4937)
  AUTHORS   Alsaloum,M., Labau,J.I.R., Sosniak,D., Zhao,P., Almomani,R.,
            Gerrits,M., Hoeijmakers,J.G.J., Lauria,G., Faber,C.G., Waxman,S.G.
            and Dib-Hajj,S.
  TITLE     A novel gain-of-function sodium channel beta2 subunit mutation in
            idiopathic small fiber neuropathy
  JOURNAL   J Neurophysiol 126 (3), 827-839 (2021)
   PUBMED   34320850
  REMARK    GeneRIF: A novel gain-of-function sodium channel beta2 subunit
            mutation in idiopathic small fiber neuropathy.
REFERENCE   4  (bases 1 to 4937)
  AUTHORS   Shen,H., Liu,D., Wu,K., Lei,J. and Yan,N.
  TITLE     Structures of human Nav1.7 channel in complex with auxiliary
            subunits and animal toxins
  JOURNAL   Science 363 (6433), 1303-1308 (2019)
   PUBMED   30765606
  REMARK    GeneRIF: this study reports the cryo-electron microscopy structures
            of the human Nav1.7-beta1-beta2 complex bound to two combinations
            of pore blockers and gating modifier toxins (GMTs), tetrodotoxin
            with protoxin-II and saxitoxin with huwentoxin-IV, both determined
            at overall resolutions of 3.2 angstroms.
REFERENCE   5  (bases 1 to 4937)
  AUTHORS   Dulsat,G., Palomeras,S., Cortada,E., Riuro,H., Brugada,R. and
            Verges,M.
  TITLE     Trafficking and localisation to the plasma membrane of Nav 1.5
            promoted by the beta2 subunit is defective due to a beta2 mutation
            associated with Brugada syndrome
  JOURNAL   Biol Cell 109 (7), 273-291 (2017)
   PUBMED   28597987
  REMARK    GeneRIF: Findings add to the understanding of beta2 role in Nav 1.5
            trafficking and localisation, which must influence cell
            excitability and electrical coupling in the heart.
REFERENCE   6  (bases 1 to 4937)
  AUTHORS   Eubanks,J., Srinivasan,J., Dinulos,M.B., Disteche,C.M. and
            Catterall,W.A.
  TITLE     Structure and chromosomal localization of the beta2 subunit of the
            human brain sodium channel
  JOURNAL   Neuroreport 8 (12), 2775-2779 (1997)
   PUBMED   9295116
REFERENCE   7  (bases 1 to 4937)
  AUTHORS   Isom,L.L., Ragsdale,D.S., De Jongh,K.S., Westenbroek,R.E.,
            Reber,B.F., Scheuer,T. and Catterall,W.A.
  TITLE     Structure and function of the beta 2 subunit of brain sodium
            channels, a transmembrane glycoprotein with a CAM motif
  JOURNAL   Cell 83 (3), 433-442 (1995)
   PUBMED   8521473
REFERENCE   8  (bases 1 to 4937)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   9  (bases 1 to 4937)
  AUTHORS   Brugada,R., Campuzano,O., Sarquella-Brugada,G., Brugada,P.,
            Brugada,J. and Hong,K.
  TITLE     Brugada Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301690
REFERENCE   10 (bases 1 to 4937)
  AUTHORS   Hartshorne,R.P. and Catterall,W.A.
  TITLE     The sodium channel from rat brain. Purification and subunit
            composition
  JOURNAL   J Biol Chem 259 (3), 1667-1675 (1984)
   PUBMED   6319405
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002800.4, DA290917.1 and
            BC036793.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004588.4.
            
            Summary: The protein encoded by this gene is the beta 2 subunit of
            the type II voltage-gated sodium channel. The encoded protein is
            involved in cell-cell adhesion and cell migration. Defects in this
            gene can be a cause of Brugada Syndrome, atrial fibrillation, or
            sudden infant death syndrome. [provided by RefSeq, Jul 2015].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.258744.1,
                                           SRR3476690.817100.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278947.6/ ENSP00000278947.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AP002800.4         99223-99239         c
            18-40               DA290917.1         1-23
            41-1515             BC036793.1         1-1475
            1516-4937           AP002800.4         85406-88827         c
FEATURES             Location/Qualifiers
     source          1..4937
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..4937
                     /gene="SCN2B"
                     /gene_synonym="ATFB14"
                     /note="sodium voltage-gated channel beta subunit 2"
                     /db_xref="GeneID:6327"
                     /db_xref="HGNC:HGNC:10589"
                     /db_xref="MIM:601327"
     exon            1..278
                     /gene="SCN2B"
                     /gene_synonym="ATFB14"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..856
                     /gene="SCN2B"
                     /gene_synonym="ATFB14"
                     /note="sodium channel, voltage-gated, type II, beta
                     polypeptide; sodium channel, voltage gated, type II beta
                     subunit; neuronal voltage-gated sodium channel beta 2
                     subunit; sodium channel regulatory subunit beta-2"
                     /codon_start=1
                     /product="sodium channel regulatory subunit beta-2
                     precursor"
                     /protein_id="NP_004579.1"
                     /db_xref="CCDS:CCDS8390.1"
                     /db_xref="GeneID:6327"
                     /db_xref="HGNC:HGNC:10589"
                     /db_xref="MIM:601327"
                     /translation="MHRDAWLPRPAFSLTGLSLFFSLVPPGRSMEVTVPATLNVLNGS
                     DARLPCTFNSCYTVNHKQFSLNWTYQECNNCSEEMFLQFRMKIINLKLERFQDRVEFS
                     GNPSKYDVSVMLRNVQPEDEGIYNCYIMNPPDRHRGHGKIHLQVLMEEPPERDSTVAV
                     IVGASVGGFLAVVILVLMVVKCVRRKKEQKLSTDDLKTEEEGKTDGEGNPDDGAK"
     exon            279..445
                     /gene="SCN2B"
                     /gene_synonym="ATFB14"
                     /inference="alignment:Splign:2.1.0"
     exon            446..656
                     /gene="SCN2B"
                     /gene_synonym="ATFB14"
                     /inference="alignment:Splign:2.1.0"
     exon            657..4937
                     /gene="SCN2B"
                     /gene_synonym="ATFB14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4916..4921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCN2B"
                     /gene_synonym="ATFB14"
                     /note="hexamer: AATAAA"
     polyA_site      4937
                     /gene="SCN2B"
                     /gene_synonym="ATFB14"
                     /note="major polyA site"
ORIGIN      
        1 acacactccc tctctctctc tttttagcag caacatacaa gccggccata ttagagagat
       61 ggaaataaag cttccttaat gttgtatatg tctttgaagt acatccgtgc attttttttt
      121 agcatccaac cattcctccc ttgtagttct cgccccctca aatcaccctc tcccgtagcc
      181 cacccgacta acatctcagt ctctgaaaat gcacagagat gcctggctac ctcgccctgc
      241 cttcagcctc acggggctca gtctcttttt ctctttggtg ccaccaggac ggagcatgga
      301 ggtcacagta cctgccaccc tcaacgtcct caatggctct gacgcccgcc tgccctgcac
      361 cttcaactcc tgctacacag tgaaccacaa acagttctcc ctgaactgga cttaccagga
      421 gtgcaacaac tgctctgagg agatgttcct ccagttccgc atgaagatca ttaacctgaa
      481 gctggagcgg tttcaagacc gcgtggagtt ctcagggaac cccagcaagt acgatgtgtc
      541 ggtgatgctg agaaacgtgc agccggagga tgaggggatt tacaactgct acatcatgaa
      601 cccccctgac cgccaccgtg gccatggcaa gatccatctg caggtcctca tggaagagcc
      661 ccctgagcgg gactccacgg tggccgtgat tgtgggtgcc tccgtcgggg gcttcctggc
      721 tgtggtcatc ttggtgctga tggtggtcaa gtgtgtgagg agaaaaaaag agcagaagct
      781 gagcacagat gacctgaaga ccgaggagga gggcaagacg gacggtgaag gcaacccgga
      841 tgatggcgcc aagtagtggg tggccggccc tgcagcctcc cgtgtcccgt ctcctcccct
      901 ctccgccctg tacagtgacc ctgcctgctc gctcttggtg tgcttcccgt gacctaggac
      961 cccagggccc acctggggcc tcctgaaccc ccgacttcgt atctcccacc ctgcaccaag
     1021 agtgacccac tctcttccat ccgagaaacc tgccatgctc tgggacgtgt gggccctggg
     1081 gagaggagag aaagggctcc cacctgccag tccctggggg gaggcaggag gcacatgtga
     1141 gggtccccag agagaaggga gtgggtgggc aggggtagag gagggggccg ctgtccacct
     1201 gcccagtgct tggcctggca gtggcttcag agaggacctg gtggggaggg agggctttcc
     1261 tgtgctgaca gcgctccctc aggagggcct tggcctggca cggctgtgct cctcccctgc
     1321 tcccagccca gagcagccat caggctggag gtgacgatga gttcctgaaa cttggagggg
     1381 catgttaaag ggatgactgt gcattccagg gcactgacgg aaagccaggg ctgcaggcaa
     1441 agctggacat gtgccctggc ccaggaggcc atgttgggcc ctcgtttcca ttgctagtgg
     1501 cctccttggg gctcccgttg gctcctaatc ccttaggact gtggatgagg ccagactgga
     1561 agagcagctc caggtagggg gccatgtttc ccagcgggga cccaccaaca gaggccagtt
     1621 tcaaagtcag ctgaggggct gaggggtggg gctccatggt gaatgcaggt tgctgcaggc
     1681 tctgccttct ccatggggta accaccctcg cctgggcagg ggcagccaag gctgggaaat
     1741 gaggaggcca tgcacagggt ggggcagctt tctttggggc ttcagtgaga actctcccag
     1801 ttgcccttgg tggggtttcc acctggcttt tggctacaga gagggaaggg aaagcctgag
     1861 gccggcataa ggggaggcct tggaacctga gctgccaatg ccagccctgt cccatctgca
     1921 gccacactac tcgctcctct cccaacaact cccttcgtgg ggacaaaagt gacaattgta
     1981 ggccaggcac agtggctcac gcctgtaatc ccagcacttt gggaggccaa ggcgggtgga
     2041 ttacctccat ctgtttagta gaaatgggca aaaccccatc tctactaaaa atacaagaat
     2101 tagctgggcg tggtggcgtg tgcctgtaat cccagctatt tgggaggctg aggcaggaga
     2161 atcgcttgag cccgggaagc agaggttgca gtgaactgag atagtgatag tgccactgca
     2221 attcagcctg ggtgacatag agagactcca tctcaaaaaa aaaaaaaaaa aaaaaaaaag
     2281 gcaattgtgc ggagccaacc atcactgcca ttacactcac attcaatgga aattgattag
     2341 gcctgagaga aggagcaaga ggcagaaaca ctgactctga gaccatgacc ttggaagatc
     2401 ctcagagatc aactagccaa gtcactcact taaaatgggg aaactgaggt tccaactgac
     2461 agaaactgag ggtcctgccc tcttctctgg ctcctcagtc tccagtttga agcaacagag
     2521 ccatcatttt cccagtggga ggggcctctg tgtcctggtc tatgatgggg cgagttggag
     2581 gggtgggctt ctctagccct gccccctccc aggagcccag cccctctggc caggactgag
     2641 gaggagtgga gggaagcagg gagggaggga gcaagtgtga agggcacagc tgctggcaaa
     2701 tgccccattc cctgccccag cacttcccag cctttccagg agctctgccc cacccctact
     2761 caaggagtca ggtgcccagg gtagggaata agtctaggaa agggggtgga gacaggaccg
     2821 tgacagtctc agggaccaat ccctgcctct gcccatcaga ttgccaattt ggggagacag
     2881 caatatcatc tgggagattc agcttaattt gcttcaattc agcaaccatt tattgagcat
     2941 ctattatgtg ccaggcactg tgccgggcac tggggatata cacaaagcca taagcactgg
     3001 ggactgccag gttggcactg tagggaccaa gattaacttt ttggtgcatc taattccacc
     3061 tctgcaagac actgcttcca aggctacagt tggggaagat gaagagattc tagaatctgt
     3121 gccctgggaa gggagaaaca gcagggaaga ggggcaatac aacagggtca agggtgcaga
     3181 ggccaggcag agtgggtgca gagtggggga tgggcaacca gcctggtaac acctgggtga
     3241 ggtgagcgag tcaagcccat ctggaaatgc taaactcatc agctcagtac ctaactgcca
     3301 atcaacacac tgccaatgcg ggtgggctaa gccgccagga tgcctgcagc agatggacgc
     3361 tgcccatcct tgagccagcc agctgggggc agagaggtgg gtggcgggca cctcatgcca
     3421 gctgagacca agagtggttg tatacatttc tgcagcttgc agatttcatt tttttggtca
     3481 ccctttaagt gtccttctct cccaggatga gtgaggagct gtgctgatgt tgggaactta
     3541 tctttttcca ggatccataa catttagggg aattatttgc gggctttcct agtgtattct
     3601 aagaagttct aactctccat caagaagccc aagattcctg gagtcttttt ttcctctgcc
     3661 ctgatcaact ggggcccagg aaaagcaatg tctcttcacg ggcctcaggg ccccagcaga
     3721 tggggctggg tcaggaacca tctctgtccc aggtgctcag ccctcatatg cattttcttc
     3781 tggagcctct tagaatctcc tccagaggac tcatagagct gcctccccca ggatggtgaa
     3841 gttgggagca aaatggggct tctgtaagta gaggtggaaa accagagaga tgtttccaca
     3901 gcagccattt ccctaccctg tttcctaact tatgctgaca agttcttcct cttcctaccg
     3961 tggggttcga gccccacttc tggttgcatg ttcccaccac cacgctctgc tggttttagt
     4021 cggctgactt tctcaactgc cccagcctct cctgctctct cagaacctcc ctctgccccc
     4081 accccccatc tgtctcttcc tcctaattaa gggccactgc aaagagagac gggctggcta
     4141 acccatggga tttagcttat aagaacaaag cacaattatt caggactgaa ctgctttgag
     4201 gtgccttgga actggctttg gaaatagcta tctgccccct agctatggac tcttcacagt
     4261 tatttccagt ttataaaaag gaaaagctga tcggatccat gtttctctct gcgagtctcc
     4321 ttggggaggt tgggctggta aatatttgca aggtcaggtt aagcagacag acaattgaaa
     4381 atactgggca ggtccaaaag gatagttcca ggccatagga atggcttggt gcagttaacg
     4441 ggtgatgaag caagaaatct tccttcctac ttatgtctta aagatggaca gcctgtgtct
     4501 cttgctgtgc ctcttgctgg cgtcttcctt tattgaagct tgctgatgca ctgtacatag
     4561 tctctctctc taggtataga tatattatat atacaaatat caaacatctc accacaccca
     4621 ccccaaaagt tacactgtgt gtgtgtgggg aggtgtaata acttctcagt gttttgagtt
     4681 gattcaccaa aggcaaattt tggaatgttc ttgcgctttg tgcacttgga ggggaaaacc
     4741 caactacata tgcactttct tggttgtgtg tgctatagag aggttggaag gggtggttgg
     4801 aaggggagag aaactgagat ggccctctgt gactcgactg ctgggatgta tctgcttttg
     4861 ggagcagact gagtttcttt tgcaatttgt cttattgttt gggtctactg gcaacaataa
     4921 actatctccc ctgaaaa
//
