KEGG   Homo sapiens (human): 6334
Entry
6334              CDS       T01001                                 

Symbol
SCN8A, BFIS5, CERIII, CIAT, DEE13, EIEE13, MED, MYOCL2, NaCh6, Nav1.6, PN4
Name
(RefSeq) sodium voltage-gated channel alpha subunit 8
  KO
K04840  voltage-gated sodium channel type VIII alpha
Organism
hsa  Homo sapiens (human)
Disease
H00606  Early infantile epileptic encephalopathy
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]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6334 (SCN8A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6334 (SCN8A)
SSDB
Motif
Pfam: Ion_trans Na_trans_cytopl Na_trans_assoc PKD_channel IQ GPHH
Other DBs
NCBI-GeneID: 6334
NCBI-ProteinID: NP_001317189
OMIM: 600702
HGNC: 10596
Ensembl: ENSG00000196876
Vega: OTTHUMG00000169490
Pharos: Q9UQD0(Tclin)
UniProt: Q9UQD0 Q6B4S4
LinkDB
Position
12q13.13
AA seq 1980 aa
MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLE
AGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNL
IRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIAR
GFCIDGFTFLRDPWNWLDFSVIMMAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTI
VGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGF
DWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAF
LALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQA
TLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEI
SKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKF
SIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDS
LFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIG
GRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCP
PCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQ
FEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGL
SVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKS
YKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMV
MVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQ
AHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIID
EDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIK
PEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWF
ETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFF
TNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNAL
VGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLM
EGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYM
YIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKP
QKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLV
FVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIR
LARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEA
GIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPS
VGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDAT
QFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSG
ELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKT
TSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC
NT seq 5943 nt   +upstreamnt  +downstreamnt
atggcagcgcggctgcttgcaccaccaggccctgatagtttcaagcctttcacccctgag
tcactggcaaacattgagaggcgcattgctgagagcaagctcaagaaaccaccaaaggcc
gatggcagtcatcgggaggacgatgaggacagcaagcccaagccaaacagcgacctggaa
gcagggaagagtttgcctttcatctacggggacatcccccaaggcctggttgcagttccc
ctggaggactttgacccatactatttgacgcagaaaacctttgtagtattaaacagaggg
aaaactctcttcagatttagtgccacgcctgccttgtacattttaagtccttttaacctg
ataagaagaatagctattaaaattttgatacattcagtatttagcatgatcattatgtgc
actattttgaccaactgtgtattcatgacttttagtaaccctcctgactggtcgaagaat
gtggagtacacgttcacagggatttatacatttgaatcactagtgaaaatcattgcaaga
ggtttctgcatagatggctttacctttttacgggacccatggaactggttagatttcagt
gtcatcatgatggcatatgtgacagagtttgtggacctgggcaatgtctcagcgctgaga
acattcagggttctccgagctttgaaaactatctctgtaattccaggcctgaagacaatt
gtgggtgccctgattcagtctgtgaagaaactgtcagatgtgatgatcctgacagtgttc
tgcctgagtgtttttgccttgatcggactgcagctgttcatggggaaccttcgaaacaag
tgtgttgtgtggcccataaacttcaacgagagctatcttgaaaatggcaccaaaggcttt
gattgggaagagtatatcaacaataaaacaaatttctacacagttcctggcatgctggaa
cctttactctgtgggaacagttctgatgctgggcaatgcccagagggataccagtgtatg
aaagcaggaaggaaccccaactatggttacacaagttttgacacttttagctgggccttc
ttggcattatttcgccttatgacccaggactattgggaaaacttgtatcaattgacttta
cgagcagccgggaaaacatacatgatcttcttcgtcttggtcatctttgtgggttctttc
tatctggtgaacttgatcttggctgtggtggccatggcttatgaagaacagaatcaggca
acactggaggaggcagaacaaaaagaggctgaatttaaagcaatgttggagcaacttaag
aagcaacaggaagaggcacaggctgctgcgatggccacttcagcaggaactgtctcagaa
gatgccatagaggaagaaggtgaagaaggagggggctcccctcggagctcttctgaaatc
tctaaactcagctcaaagagtgcaaaggaaagacgtaacaggagaaagaagaggaagcaa
aaggaactctctgaaggagaggagaaaggggatcccgagaaggtgtttaagtcagagtca
gaagatggcatgagaaggaaggcctttcggctgccagacaacagaatagggaggaaattt
tccatcatgaatcagtcactgctcagcatcccaggctcgcccttcctctcccgccacaac
agcaagagcagcatcttcagtttcaggggacctgggcggttccgagacccgggctccgag
aatgagttcgcggatgacgagcacagcacggtggaggagagcgagggccgccgggactcc
ctcttcatccccatccgggcccgcgagcgccggagcagctacagcggctacagcggctac
agccagggcagccgctcctcgcgcatcttccccagcctgcggcgcagcgtgaagcgcaac
agcacggtggactgcaacggcgtggtgtccctcatcggcggccccggctcccacatcggc
gggcgtctcctgccagaggctacaactgaggtggaaattaagaagaaaggccctggatct
cttttagtttccatggaccaattagcctcctacgggcggaaggacagaatcaacagtata
atgagtgttgttacaaatacactagtagaagaactggaagagtctcagagaaagtgcccg
ccatgctggtataaatttgccaacactttcctcatctgggagtgccacccctactggata
aaactgaaagagattgtgaacttgatagttatggacccttttgtggatttagccatcacc
atctgcatcgtcctgaatacactgtttatggcaatggagcaccatcctatgacaccacaa
tttgaacatgtcttggctgtaggaaatctggttttcactggaattttcacagcggaaatg
ttcctgaagctcatagccatggatccctactattatttccaagaaggttggaacattttt
gacggatttattgtctccctcagtttaatggaactgagtctagcagacgtggaggggctt
tcagtgctgcgatctttccgattgctccgagtcttcaaattggccaaatcctggcccacc
ctgaacatgctaatcaagattattggaaattcagtgggtgccctgggcaacctgacactg
gtgctggccattattgtcttcatctttgccgtggtggggatgcaactctttggaaaaagc
tacaaagagtgtgtctgcaagatcaaccaggactgtgaactccctcgctggcatatgcat
gactttttccattccttcctcattgtctttcgagtgttgtgcggggagtggattgagacc
atgtgggactgcatggaagtggcaggccaggccatgtgcctcattgtctttatgatggtc
atggtgattggcaacttggtggtgctgaacctgtttctggccttgctcctgagctccttc
agtgcagacaacctggctgccacagatgacgatggggaaatgaacaacctccagatctca
gtgatccgtatcaagaagggtgtggcctggaccaaactaaaggtgcacgccttcatgcag
gcccactttaagcagcgtgaggctgatgaggtgaagcctctggatgagttgtatgaaaag
aaggccaactgtatcgccaatcacaccggtgcagacatccaccggaatggtgacttccag
aagaatggcaatggcacaaccagcggcattggcagcagcgtggagaagtacatcattgat
gaggaccacatgtccttcatcaacaaccccaacttgactgtacgggtacccattgctgtg
ggcgagtctgactttgagaacctcaacacagaggatgttagcagcgagtcggatcctgaa
ggcagcaaagataaactagatgacaccagctcctctgaaggaagcaccattgatatcaaa
ccagaagtagaagaggtccctgtggaacagcctgaggaatacttggatccagatgcctgc
ttcacagaaggttgtgtccagcggttcaagtgctgccaggtcaacatcgaggaagggcta
ggcaagtcttggtggatcctgcggaaaacctgcttcctcatcgtggagcacaactggttt
gagaccttcatcatcttcatgattctgctgagcagtggcgccctggccttcgaggacatc
tacattgagcagagaaagaccatccgcaccatcctggaatatgctgacaaagtcttcacc
tatatcttcatcctggagatgttgctcaagtggacagcctatggcttcgtcaagttcttc
accaatgcctggtgttggctggacttcctcattgtggctgtctctttagtcagccttata
gctaatgccctgggctactcggaactaggtgccataaagtcccttaggaccctaagagct
ttgagacccttaagagccttatcacgatttgaagggatgagggtggtggtgaatgccttg
gtgggcgccatcccctccatcatgaatgtgctgctggtgtgtctcatcttctggctgatt
ttcagcatcatgggagttaacttgtttgcgggaaagtaccactactgctttaatgagact
tctgaaatccgatttgaaattgaagatgtcaacaataaaactgaatgtgaaaagcttatg
gaggggaacaatacagagatcagatggaagaacgtgaagatcaactttgacaatgttggg
gcaggatacctggcccttcttcaagtagcaaccttcaaaggctggatggacatcatgtat
gcagctgtagattcccggaagcctgatgagcagcctaagtatgaggacaatatctacatg
tacatctattttgtcatcttcatcatcttcggctccttcttcaccctgaacctgttcatt
ggtgtcatcattgataacttcaatcaacaaaagaaaaagttcggaggtcaggacatcttc
atgaccgaagaacagaagaagtactacaatgccatgaaaaagctgggctcaaagaagcca
cagaaacctattccccgccccttgaacaaaatccaaggaatcgtctttgattttgtcact
cagcaagcctttgacattgttatcatgatgctcatctgccttaacatggtgacaatgatg
gtggagacagacactcaaagcaagcagatggagaacatcctctactggattaacctggtg
tttgttatcttcttcacctgtgagtgtgtgctcaaaatgtttgcgttgaggcactactac
ttcaccattggctggaacatcttcgacttcgtggtagtcatcctctccattgtgggaatg
ttcctggcagatataattgagaaatactttgtttccccaaccctattccgagtcatccga
ttggcccgtattgggcgcatcttgcgtctgatcaaaggcgccaaagggattcgtaccctg
ctctttgccttaatgatgtccttgcctgccctgttcaacatcggccttctgctcttcctg
gtcatgttcatcttctccatttttgggatgtccaattttgcatatgtgaagcacgaggct
ggtatcgatgacatgttcaactttgagacatttggcaacagcatgatctgcctgtttcaa
atcacaacctcagctggttgggatggcctgctgctgcccatcctaaaccgcccccctgac
tgcagcctagataaggaacacccagggagtggctttaagggagattgtgggaacccctca
gtgggcatcttcttctttgtaagctacatcatcatctctttcctaattgtcgtgaacatg
tacattgccatcatcctggagaacttcagtgtagccacagaggaaagtgcagaccctctg
agtgaggatgactttgagaccttctatgagatctgggagaagttcgaccccgatgccacc
cagttcattgagtactgtaagctggcagactttgcagatgccttggagcatcctctccga
gtgcccaagcccaataccattgagctcatcgctatggatctgccaatggtgagcggggat
cgcatccactgcttggacatcctttttgccttcaccaagcgggtcctgggagatagcggg
gagttggacatcctgcggcagcagatggaagagcggttcgtggcatccaatccttccaaa
gtgtcttacgagccaatcacaaccacactgcgtcgcaagcaggaggaggtatctgcagtg
gtcctgcagcgtgcctaccggggacatttggcaaggcggggcttcatctgcaaaaagaca
acttctaataagctggagaatggaggcacacaccgggagaaaaaagagagcaccccatct
acagcctccctcccgtcctatgacagtgtaactaaacctgaaaaggagaaacagcagcgg
gcagaggaaggaagaagggaaagagccaaaagacaaaaagaggtcagagaatccaagtgt
tag

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