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>
Bliretrigine: D12616
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<US>
Disopyramide (DG00194): D00303<JP> D00637<JP/US>
Eleclazine: D11155
Encainide (DG00203): D03991 D07894
Eslicarbazepine (DG00848): D09215 D09612<US>
Ethyl piperidinoacetylaminobenzoate: D01519
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<US>
Tocainide (DG00198): D02088 D06172
Topiramate: D00537<JP/US>
Transcainide: D06203
Zonisamide: D00538<JP/US>
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: D01967
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_assoc Na_trans_cytopl PKD_channel IQ GPHH Lustrin_cystein
Other DBs
NCBI-GeneID: 6334
NCBI-ProteinID: NP_001317189
OMIM: 600702
HGNC: 10596
Ensembl: ENSG00000196876
UniProt: Q9UQD0 Q6B4S4
Structure
Position
12:51591233..51812864
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (7)   
   KEGG DISEASE (2)   
   OMIM (5)   
Drug (98)   
   KEGG DRUG (98)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (7)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (41)   
   RefSeq(nuc) (5)   
   GenBank (18)   
   EMBL (18)   
3D Structure (3)   
   PDB (3)   
Protein domain (7)   
   Pfam (7)   
All databases (184)   

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