Sodium channel protein type 2 subunit alpha

NameSodium channel protein type 2 subunit alpha
SynonymsHBSC II NAC2 SCN2A1 SCN2A2 Sodium channel protein brain II subunit alpha Sodium channel protein type II subunit alpha Voltage-gated sodium channel subunit alpha Nav1.2
Gene NameSCN2A
OrganismHuman
Amino acid sequence
>lcl|BSEQ0004080|Sodium channel protein type 2 subunit alpha
MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGK
SLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRK
LAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFC
LEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGA
LIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSL
DGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNP
NYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLI
LAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGI
GVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFS
LEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHST
FEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGP
STLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEE
SRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEH
YPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGL
ANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGM
QLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCL
TVFMMVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRK
IREFIQKAFVRKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGS
SVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSS
SEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKT
CYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLK
WVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRF
EGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVV
NNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQ
PKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNA
MKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMT
NILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFV
SPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMS
NFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGS
SVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYE
VWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFA
FTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYL
LKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTK
PEKEKFEKDKSEKEDKGKDIRESKK
Number of residues2005
Molecular Weight227972.64
Theoretical pI5.42
GO Classification
Functions
    voltage-gated sodium channel activity
Processes
    membrane depolarization during action potential
sodium ion transport
neuronal action potential
neuron apoptotic process
sodium ion transmembrane transport
myelination
intrinsic apoptotic signaling pathway in response to osmotic stress
Components
    sodium channel complex
intercalated disc
T-tubule
intracellular
voltage-gated sodium channel complex
intrinsic component of plasma membrane
plasma membrane
axon
integral component of plasma membrane
node of Ranvier
paranode region of axon
General FunctionVoltage-gated sodium channel activity
Specific FunctionMediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.
Transmembrane Regions125-148 157-176 190-208 215-234 251-274 402-427 754-778 790-813 822-841 848-867 884-904 958-983 1204-1227 1241-1266 1273-1294 1299-1320 1340-1367 1447-1473 1527-1550 1562-1585 1592-1615 1626-1647 1663-1685 1752-1776
GenBank Protein ID457879
UniProtKB IDQ99250
UniProtKB Entry NameSCN2A_HUMAN
Cellular LocationCell membrane
Gene sequence
>lcl|BSEQ0021675|Sodium channel protein type 2 subunit alpha (SCN2A)
ATGGCACAGTCAGTGCTGGTACCGCCAGGACCTGACAGCTTCCGCTTCTTTACCAGGGAA
TCCCTTGCTGCTATTGAACAACGCATTGCAGAAGAGAAAGCTAAGAGACCCAAACAGGAA
CGCAAGGATGAGGATGATGAAAATGGCCCAAAGCCAAACAGTGACTTGGAAGCAGGAAAA
TCTCTTCCATTTATTTATGGAGACATTCCTCCAGAGATGGTGTCAGTGCCCCTGGAGGAT
CTGGACCCCTACTATATCAATAAGAAAACGTTTATAGTATTGAATAAAGGGAAAGCAATC
TCTCGATTCAGTGCCACCCCTGCCCTTTACATTTTAACTCCCTTCAACCCTATTAGAAAA
TTAGCTATTAAGATTTTGGTACATTCTTTATTCAATATGCTCATTATGTGCACGATTCTT
ACCAACTGTGTATTTATGACCATGAGTAACCCTCCAGACTGGACAAAGAATGTGGAGTAT
ACCTTTACAGGAATTTATACTTTTGAATCACTTATTAAAATACTTGCAAGGGGCTTTTGT
TTAGAAGATTTCACATTTTTACGGGATCCATGGAATTGGTTGGATTTCACAGTCATTACT
TTTGCATATGTGACAGAGTTTGTGGACCTGGGCAATGTCTCAGCGTTGAGAACATTCAGA
GTTCTCCGAGCATTGAAAACAATTTCAGTCATTCCAGGCCTGAAGACCATTGTGGGGGCC
CTGATCCAGTCAGTGAAGAAGCTTTCTGATGTCATGATCTTGACTGTGTTCTGTCTAAGC
GTGTTTGCGCTAATAGGATTGCAGTTGTTCATGGGCAACCTACGAAATAAATGTTTGCAA
TGGCCTCCAGATAATTCTTCCTTTGAAATAAATATCACTTCCTTCTTTAACAATTCATTG
GATGGGAATGGTACTACTTTCAATAGGACAGTGAGCATATTTAACTGGGATGAATATATT
GAGGATAAAAGTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAAC
AGCTCAGATGCAGGCCAGTGTCCTGAAGGATACATCTGTGTGAAGGCTGGTAGAAACCCC
AACTATGGCTACACGAGCTTTGACACCTTTAGTTGGGCCTTTTTGTCCTTATTTCGTCTC
ATGACTCAAGACTTCTGGGAAAACCTTTATCAACTGACACTACGTGCTGCTGGGAAAACG
TACATGATATTTTTTGTGCTGGTCATTTTCTTGGGCTCATTCTATCTAATAAATTTGATC
TTGGCTGTGGTGGCCATGGCCTATGAGGAACAGAATCAGGCCACATTGGAAGAGGCTGAA
CAGAAGGAAGCTGAATTTCAGCAGATGCTCGAACAGTTGAAAAAGCAACAAGAAGAAGCT
CAGGCGGCAGCTGCAGCCGCATCTGCTGAATCAAGAGACTTCAGTGGTGCTGGTGGGATA
GGAGTTTTTTCAGAGAGTTCTTCAGTAGCATCTAAGTTGAGCTCCAAAAGTGAAAAAGAG
CTGAAAAACAGAAGAAAGAAAAAGAAACAGAAAGAACAGTCTGGAGAAGAAGAGAAAAAT
GACAGAGTCCGAAAATCGGAATCTGAAGACAGCATAAGAAGAAAAGGTTTCCGTTTTTCC
TTGGAAGGAAGTAGGCTGACATATGAAAAGAGATTTTCTTCTCCACACCAGTCCTTACTG
AGCATCCGTGGCTCCCTTTTCTCTCCAAGACGCAACAGTAGGGCGAGCCTTTTCAGCTTC
AGAGGTCGAGCAAAGGACATTGGCTCTGAGAATGACTTTGCTGATGATGAGCACAGCACC
TTTGAGGACAATGACAGCCGAAGAGACTCTCTGTTCGTGCCGCACAGACATGGAGAACGG
CGCCACAGCAATGTCAGCCAGGCCAGCCGTGCCTCCAGGGTGCTCCCCATCCTGCCCATG
AATGGGAAGATGCATAGCGCTGTGGACTGCAATGGTGTGGTCTCCCTGGTCGGGGGCCCT
TCTACCCTCACATCTGCTGGGCAGCTCCTACCAGAGGGCACAACTACTGAAACAGAAATA
AGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCA
AGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAGAACTTGAAGAA
TCCAGACAGAAATGCCCACCATGCTGGTATAAATTTGCTAATATGTGTTTGATTTGGGAC
TGTTGTAAACCATGGTTAAAGGTGAAACACCTTGTCAACCTGGTTGTAATGGACCCATTT
GTTGACCTGGCCATCACCATCTGCATTGTCTTAAATACACTCTTCATGGCTATGGAGCAC
TATCCCATGACGGAGCAGTTCAGCAGTGTACTGTCTGTTGGAAACCTGGTCTTCACAGGG
ATCTTCACAGCAGAAATGTTTCTCAAGATAATTGCCATGGATCCATATTATTACTTTCAA
GAAGGCTGGAATATTTTTGATGGTTTTATTGTGAGCCTTAGTTTAATGGAACTTGGTTTG
GCAAATGTGGAAGGATTGTCAGTTCTCCGATCATTCCGGCTGCTCCGAGTTTTCAAGTTG
GCAAAATCTTGGCCAACTCTAAATATGCTAATTAAGATCATTGGCAATTCTGTGGGGGCT
CTAGGAAACCTCACCTTGGTATTGGCCATCATCGTCTTCATTTTTGCTGTGGTCGGCATG
CAGCTCTTTGGTAAGAGCTACAAAGAATGTGTCTGCAAGATTTCCAATGATTGTGAACTC
CCACGCTGGCACATGCATGACTTTTTCCACTCCTTCCTGATCGTGTTCCGCGTGCTGTGT
GGAGAGTGGATAGAGACCATGTGGGACTGTATGGAGGTCGCTGGCCAAACCATGTGCCTT
ACTGTCTTCATGATGGTCATGGTGATTGGAAATCTAGTGGTTCTGAACCTCTTCTTGGCC
TTGCTTTTGAGTTCCTTCAGTTCTGACAATCTTGCTGCCACTGATGATGATAACGAAATG
AATAATCTCCAGATTGCTGTGGGAAGGATGCAGAAAGGAATCGATTTTGTTAAAAGAAAA
ATACGTGAATTTATTCAGAAAGCCTTTGTTAGGAAGCAGAAAGCTTTAGATGAAATTAAA
CCGCTTGAAGATCTAAATAATAAAAAAGACAGCTGTATTTCCAACCATACCACCATAGAA
ATAGGCAAAGACCTCAATTATCTCAAAGACGGAAATGGAACTACTAGTGGCATAGGCAGC
AGTGTAGAAAAATATGTCGTGGATGAAAGTGATTACATGTCATTTATAAACAACCCTAGC
CTCACTGTGACAGTACCAATTGCTGTTGGAGAATCTGACTTTGAAAATTTAAATACTGAA
GAATTCAGCAGCGAGTCAGATATGGAGGAAAGCAAAGAGAAGCTAAATGCAACTAGTTCA
TCTGAAGGCAGCACGGTTGATATTGGAGCTCCCGCCGAGGGAGAACAGCCTGAGGTTGAA
CCTGAGGAATCCCTTGAACCTGAAGCCTGTTTTACAGAAGACTGTGTACGGAAGTTCAAG
TGTTGTCAGATAAGCATAGAAGAAGGCAAAGGGAAACTCTGGTGGAATTTGAGGAAAACA
TGCTATAAGATAGTGGAGCACAATTGGTTCGAAACCTTCATTGTCTTCATGATTCTGCTG
AGCAGTGGGGCTCTGGCCTTTGAAGATATATACATTGAGCAGCGAAAAACCATTAAGACC
ATGTTAGAATATGCTGACAAGGTTTTCACTTACATATTCATTCTGGAAATGCTGCTAAAG
TGGGTTGCATATGGTTTTCAAGTGTATTTTACCAATGCCTGGTGCTGGCTAGACTTCCTG
ATTGTTGATGTCTCACTGGTTAGCTTAACTGCAAATGCCTTGGGTTACTCAGAACTTGGT
GCCATCAAATCCCTCAGAACACTAAGAGCTCTGAGGCCACTGAGAGCTTTGTCCCGGTTT
GAAGGAATGAGGGTTGTTGTAAATGCTCTTTTAGGAGCCATTCCATCTATCATGAATGTA
CTTCTGGTTTGTCTGATCTTTTGGCTAATATTCAGTATCATGGGAGTGAATCTCTTTGCT
GGCAAGTTTTACCATTGTATTAATTACACCACTGGAGAGATGTTTGATGTAAGCGTGGTC
AACAACTACAGTGAGTGCAAAGCTCTCATTGAGAGCAATCAAACTGCCAGGTGGAAAAAT
GTGAAAGTAAACTTTGATAACGTAGGACTTGGATATCTGTCTCTACTTCAAGTAGCCACG
TTTAAGGGATGGATGGATATTATGTATGCAGCTGTTGATTCACGAAATGTAGAATTACAA
CCCAAGTATGAAGACAACCTGTACATGTATCTTTATTTTGTCATCTTTATTATTTTTGGT
TCATTCTTTACCTTGAATCTTTTCATTGGTGTCATCATAGATAACTTCAACCAACAGAAA
AAGAAGTTTGGAGGTCAAGACATTTTTATGACAGAAGAACAGAAGAAATACTACAATGCA
ATGAAAAAACTGGGTTCAAAGAAACCACAAAAACCCATACCTCGACCTGCTAACAAATTC
CAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTC
ATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACA
AACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTG
AAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTG
GTGGTCATTCTCTCCATTGTAGGAATGTTTCTGGCTGAACTGATAGAAAAGTATTTTGTG
TCCCCTACCCTGTTCCGAGTGATCCGTCTTGCCAGGATTGGCCGAATCCTACGTCTGATC
AAAGGAGCAAAGGGGATCCGCACGCTGCTCTTTGCTTTGATGATGTCCCTTCCTGCGTTG
TTTAACATCGGCCTCCTTCTTTTCCTGGTCATGTTCATCTACGCCATCTTTGGGATGTCC
AATTTTGCCTATGTTAAGAGGGAAGTTGGGATCGATGACATGTTCAACTTTGAGACCTTT
GGCAACAGCATGATCTGCCTGTTCCAAATTACAACCTCTGCTGGCTGGGATGGATTGCTA
GCACCTATTCTTAATAGTGGACCTCCAGACTGTGACCCTGACAAAGATCACCCTGGAAGC
TCAGTTAAAGGAGACTGTGGGAACCCATCTGTTGGGATTTTCTTTTTTGTCAGTTACATC
ATCATATCCTTCCTGGTTGTGGTGAACATGTACATCGCGGTCATCCTGGAGAACTTCAGT
GTTGCTACTGAAGAAAGTGCAGAGCCTCTGAGTGAGGATGACTTTGAGATGTTCTATGAG
GTTTGGGAGAAGTTTGATCCCGATGCGACCCAGTTTATAGAGTTTGCCAAACTTTCTGAT
TTTGCAGATGCCCTGGATCCTCCTCTTCTCATAGCAAAACCCAACAAAGTCCAGCTCATT
GCCATGGATCTGCCCATGGTGAGTGGTGACCGGATCCACTGTCTTGACATCTTATTTGCT
TTTACAAAGCGTGTTTTGGGTGAGAGTGGAGAGATGGATGCCCTTCGAATACAGATGGAA
GAGCGATTCATGGCATCAAACCCCTCCAAAGTCTCTTATGAGCCCATTACGACCACGTTG
AAACGCAAACAAGAGGAGGTGTCTGCTATTATTATCCAGAGGGCTTACAGACGCTACCTC
TTGAAGCAAAAAGTTAAAAAGGTATCAAGTATATACAAGAAAGACAAAGGCAAAGAATGT
GATGGAACACCCATCAAAGAAGATACTCTCATTGATAAACTGAATGAGAATTCAACTCCA
GAGAAAACCGATATGACGCCTTCCACCACGTCTCCACCCTCGTATGATAGTGTGACCAAA
CCAGAAAAAGAAAAATTTGAAAAAGACAAATCAGAAAAGGAAGACAAAGGGAAAGATATC
AGGGAAAGTAAAAAGTAA
GenBank Gene IDM94055
GeneCard IDNone
GenAtlas IDSCN2A
HGNC IDHGNC:10588
Chromosome Location2
Locus2q23-q24
References
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  2. Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE: SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology. 2010 Oct 19;75(16):1454-8. doi: 10.1212/WNL.0b013e3181f8812e.[20956790 ]
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  7. Gilchrist J, Das S, Van Petegem F, Bosmans F: Crystallographic insights into sodium-channel modulation by the beta4 subunit. Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):E5016-24. doi: 10.1073/pnas.1314557110. Epub 2013 Dec 2.[24297919 ]
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  12. Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M: A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Brain Dev. 2005 Sep;27(6):424-30. Epub 2005 Jan 12.[16122630 ]
  13. Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev. 2009 Nov;31(10):758-62. doi: 10.1016/j.braindev.2009.08.009. Epub 2009 Sep 23.[19783390 ]
  14. Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K: De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology. 2009 Sep 29;73(13):1046-53. doi: 10.1212/WNL.0b013e3181b9cebc.[19786696 ]
  15. Touma M, Joshi M, Connolly MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB: Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Epilepsia. 2013 May;54(5):e81-5. doi: 10.1111/epi.12137. Epub 2013 Mar 28.[23550958 ]
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