KEGG   Homo sapiens (human): 6326
Entry
6326              CDS       T01001                                 
Symbol
SCN2A, BFIC3, BFIS3, BFNIS, DEE11, EA9, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2
Name
(RefSeq) sodium voltage-gated channel alpha subunit 2
  KO
K04834  voltage-gated sodium channel type II alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04742  Taste transduction
Disease
H00606  Early infantile epileptic encephalopathy
H00749  Episodic ataxias
H02362  Benign familial infantile seizure
Drug target
Actisomide: D02762
Ajmaline: D00199
Aminobenzoic acid (DG00379): D02456 D02906 D02907
Amiodarone (DG00204): D00636<JP/US> D02910
Aprindine (DG00199): D01326<JP> D02969
Articaine (DG00805): D02991 D07468
Benzocaine: D00552<JP>
Bupivacaine (DG00801): D01450<JP/US> D07552<US>
Carbamazepine: D00252<JP/US>
Cenobamate: D11150<US>
Chloroprocaine (DG00800): D00732<US> D07678
Cibenzoline (DG00209): D01455<JP> D03492
Cinchocaine (DG00297): D00733 D02220
Cocaine (DG00808): D00110 D02182<JP/US>
Disopyramide (DG00194): D00303<JP> D00637<JP/US>
Eleclazine: D11155
Encainide (DG00203): D03991 D07894
Eslicarbazepine (DG00848): D09215 D09612<US>
Ethyl piperidinoacetylaminobenzoate: D01519<JP>
Etidocaine (DG00804): D00737 D04095
Flecainide (DG00201): D00638<JP/US> D07962
Fosphenytoin (DG00847): D02096<US> D07595<JP> D07993
Indecainide hydrochloride: D04521
Lamotrigine: D00354<JP/US>
Levobupivacaine (DG00807): D01287<JP> D08116
Levosemotiadil fumarate: D09833
Lidocaine (DG00196): D00358<JP/US> D02086<JP/US> D08127<JP/US>
Lorajmine: D04774
Mephenytoin: D00375
Mepivacaine (DG00802): D00738<JP/US> D08181
Mexiletine (DG00197): D00639<JP/US> D08215
Oxcarbazepine: D00533<US>
Oxetacaine (DG00299): D01152<JP> D08311
Oxybuprocaine (DG00392): D01768<JP> D08319
Phenytoin (DG00846): D00512<JP/US> D02103<JP/US>
Pilsicainide (DG01257): D01554<JP> D08377
Pirmenol (DG01381): D01785<JP> D06517 D08394
Pramocaine (DG00300): D00739 D08407
Prilocaine (DG00803): D00553 D01243<US>
Procainamide (DG00193): D00477<JP/US> D08421
Procaine (DG00298): D00740<JP> D08422
Propafenone (DG00200): D00640<JP/US> D08435
Proxymetacaine (DG01145): D02098<US> D08448
Quinidine (DG00192): D00642<US> D00643 D02272<JP/US> D08458 D08459
Recainam (DG01421): D05708 D05709
Ropivacaine (DG00806): D04048<JP/US> D08490
Rufinamide: D05775<JP/US>
Sparteine (DG00195): D01041 D02239
Tetracaine (DG00296): D00551 D00741<JP/US>
Tocainide (DG00198): D02088 D06172
Topiramate: D00537<JP/US>
Transcainide: D06203
Zonisamide: D00538<JP/US>
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: D01967<JP>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09157 Sensory system
   04742 Taste transduction
    6326 (SCN2A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6326 (SCN2A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6326 (SCN2A)
SSDB
Motif
Pfam: Ion_trans Na_trans_assoc Na_trans_cytopl PKD_channel GPHH ATP-synt_B IQ
Other DBs
NCBI-GeneID: 6326
NCBI-ProteinID: NP_001035232
OMIM: 182390
HGNC: 10588
Ensembl: ENSG00000136531
Pharos: Q99250(Tclin)
UniProt: Q99250
Structure
LinkDB
Position
2:165239414..165392304
AA seq 2005 aa
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
NT seq 6018 nt   +upstreamnt  +downstreamnt
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

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