KEGG   Homo sapiens (human): 6329Help
Entry
6329              CDS       T01001                                 

Gene name
SCN4A, CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
Definition
(RefSeq) sodium voltage-gated channel alpha subunit 4
  KO
K04837  
voltage-gated sodium channel type IV alpha
Organism
hsa  Homo sapiens (human)
Disease
H00215  
Periodic paralysis
H00743  
Paramyotonia congenita (PMC)
H00744  
Potassium-aggravated myotonias (PAMs)
H00745  
Hyperkalemic periodic paralysis (HyperPP)
H00746  
Hypokalemic periodic paralysis (HypoPP)
H00770  
Congenital myasthenic syndrome
H01780  
Non-dystrophic myotonia
Drug target
Ajmaline: 
Ambroxol (DG01073): 
Aminobenzoic acid (DG00379): 
Aprindine (DG00199): 
Articaine (DG00805): 
Benzocaine: 
Bunaftine: 
Bupivacaine (DG00801): 
Carbamazepine: 
Chloroprocaine (DG00800): 
Cibenzoline (DG00209): 
Cinchocaine (DG00297): 
Cocaine (DG00808): 
Disopyramide (DG00194): 
Dyclonine (DG00809): 
Encainide (DG00203): 
Eslicarbazepine (DG00848): 
Etidocaine (DG00804): 
Flecainide (DG00201): 
Fosphenytoin (DG00847): 
Hydroquinidine (DG01791): 
Lamotrigine: 
Levobupivacaine (DG00807): 
Lidocaine (DG00196): 
Mephenytoin: 
Mepivacaine (DG00802): 
Mexiletine (DG00197): 
Moracizine (DG00208): 
Oxcarbazepine: 
Phenytoin (DG00846): 
Pilsicainide (DG01257): 
Pirmenol (DG01381): 
Prilocaine (DG00803): 
Procainamide (DG00193): 
Procaine (DG00298): 
Propafenone (DG00200): 
Proxymetacaine (DG01145): 
Quinidine (DG00192): 
Ropivacaine (DG00806): 
Tetracaine (DG00296): 
Tocainide (DG00198): 
Topiramate: 
Zonisamide: 
Brite
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Na+ channel, SCN alpha, NaV1.x
   6329 (SCN4A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P35499(Tclin)
UniProt: 
Position
17q23.3
AA seq 1836 aa AA seqDB search
MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEA
GKNLPMIYGDPPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVV
RRGAIKVLIHALFSMFIMITILTNCVFMTMSDPPPWSKNVEYTFTGIYTFESLIKILARG
FCVDDFTFLRDPWNWLDFSVIMMAYLTEFVDLGNISALRTFRVLRALKTITVIPGLKTIV
GALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCVRWPPPFNDTNTTWYSNDTW
YGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDAYISDEGNFYFLEGSNDALLC
GNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAG
KTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQE
ELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEA
HQKCPPWWYKCAHKVLIWNCCAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHY
PMTEHFDNVLTVGNLVFTGIFTAEMVLKLIAMDPYEYFQQGWNIFDSIIVTLSLVELGLA
NVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQ
LFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCMEVAGQAMCLT
VFLMVMVIGNLVVLNLFLALLLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFL
LGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKKEPPEEDLKKDNHILNHMGLA
DGPPSSLELDHLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDG
NSSVCSTADYKPPEEDPEEQAEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTL
RRACFKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRRVIRTILEYADKVFTYIFIMEM
LLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYSELGPIKSLRTLRALRPLRAL
SRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCINTTTSERFDI
SEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKE
EQPQYEVNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYY
NAMKKLGSKKPQKPIPRPQNKIQGMVYDLVTKQAFDITIMILICLNMVTMMVETDNQSQL
KVDILYNINMIFIIIFTGECVLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKY
FVSPTLFRVIRLARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFG
MSNFAYVKKESGIDDMFNFETFGNSIICLFEITTSAGWDGLLNPILNSGPPDCDPNLENP
GTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILENFNVATEESSEPLGEDDFEMF
YETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL
FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRR
HLLQRSMKQASYMYRHSHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGD
AGPTMGLMPISPSDTAWPPAPPPGQTVRPGVKESLV
NT seq 5511 nt NT seq  +upstreamnt  +downstreamnt
atggccagaccatctctgtgcaccctggtgcctctgggccctgagtgcttgcgccccttc
acccgggagtcactggcagccatagaacagcgggcggtggaggaggaggcccggctgcag
cggaataagcagatggagattgaggagcccgaacggaagccacgaagtgacttggaggct
ggcaagaacctacccatgatctacggagaccccccgccggaggtcatcggcatccccctg
gaggacctggatccctactacagcaataagaagaccttcatcgtactcaacaagggcaag
gccatcttccgcttctccgccacacctgctctctacctgctgagccccttcagcgtagtc
aggcgcggggccatcaaggtgctcatccatgcgctgttcagcatgttcatcatgatcacc
atcttgaccaactgcgtattcatgaccatgagtgacccgcctccctggtccaagaatgtg
gagtacaccttcacagggatctacacctttgagtccctcatcaagatactggcccgaggc
ttctgtgtcgacgacttcacattcctccgggacccctggaactggctggacttcagtgtc
atcatgatggcgtacctgacagagtttgtggacttgggcaacatctcagccctgaggacc
ttccgggtgctgcgggccctcaaaaccatcacggtcatcccagggctgaagacgatcgtg
ggggccctgatccagtcggtgaaaaagctgtcggatgtgatgatcctcactgtcttctgc
ctgagcgtctttgcgctggtaggactgcagctcttcatgggaaacctgaggcagaagtgt
gtgcgctggcccccgccgttcaacgacaccaacaccacgtggtacagcaatgacacgtgg
tacggcaatgacacatggtatggcaatgagatgtggtacggcaatgactcatggtatgcc
aacgacacgtggaacagccatgcaagctgggccaccaacgatacctttgattgggacgcc
tacatcagtgatgaagggaacttctacttcctggagggctccaacgatgccctgctctgt
gggaacagcagtgatgctgggcactgccctgagggttatgagtgcatcaagaccgggcgg
aaccccaactatggctacaccagctatgacaccttcagctgggccttcttggctctcttc
cgcctcatgacacaggactattgggagaacctcttccagctgacccttcgagcagctggc
aagacctacatgatcttcttcgtggtcatcatcttcctgggctctttctacctcatcaat
ctgatcctggccgtggtggccatggcatatgccgagcagaatgaggccaccctggccgag
gataaggagaaagaggaggagtttcagcagatgcttgagaagttcaaaaagcaccaggag
gagctggagaaggccaaggccgcccaagctctggaaggtggggaggcagatggggaccca
gcccatggcaaagactgcaatggcagcctggacacatcgcaaggggagaagggagccccg
aggcagagcagcagcggagacagcggcatctccgacgccatggaagaactggaagaggcc
caccaaaagtgcccaccatggtggtacaagtgcgcccacaaagtgctcatatggaactgc
tgcgccccgtggctgaagttcaagaacatcatccacctgatcgtcatggacccgttcgtg
gacctgggcatcaccatctgcatcgtgctcaacaccctcttcatggccatggaacattac
cccatgacggagcactttgacaacgtgctcactgtgggcaacctggtcttcacaggcatc
ttcacagcagagatggttctgaagctgattgccatggacccctacgagtatttccagcag
ggttggaatatcttcgacagcatcatcgtcaccctcagcctggtagagctaggcctggcc
aacgtacagggactgtctgtgctacgctccttccgtctgctgcgggtcttcaagctggcc
aagtcgtggccaacgctgaacatgctcatcaagatcattggcaattcagtgggggcgctg
ggtaacctgacgctggtgctggctatcatcgtgttcatcttcgccgtggtgggcatgcag
ctgtttggcaagagctacaaggagtgcgtgtgcaagattgccttggactgcaacctgccg
cgctggcacatgcatgatttcttccactccttcctcatcgtcttccgcatcctgtgcggg
gagtggatcgagaccatgtgggactgcatggaggtggccggccaagccatgtgcctcacc
gtcttcctcatggtcatggtcatcggcaatcttgtggtcctgaacctgttcctggctctg
ctgctgagctccttcagcgccgacagtctggcagcctcggatgaggatggcgagatgaac
aacctgcagattgccatcgggcgcatcaagttgggcatcggctttgccaaggccttcctc
ctggggctgctgcatggcaagatcctgagccccaaggacatcatgctcagcctcggggag
gctgacggggccggggaggctggagaggcgggggagactgcccccgaggatgagaagaag
gagccgcccgaggaggacctgaagaaggacaatcacatcctgaaccacatgggcctggct
gacggccccccatccagcctcgagctggaccaccttaacttcatcaacaacccctacctg
accatacaggtgcccatcgcctccgaggagtccgacctggagatgcccaccgaggaggaa
accgacactttctcagagcctgaggatagcaagaagccgccgcagcctctctatgatggg
aactcgtccgtctgcagcacagctgactacaagccccccgaggaggaccctgaggagcag
gcagaggagaaccccgagggggagcagcctgaggagtgcttcactgaggcctgcgtgcag
cgctggccctgcctctacgtggacatctcccagggccgtgggaagaagtggtggactctg
cgcagggcctgcttcaagattgtcgagcacaactggttcgagaccttcattgtcttcatg
atcctgctcagcagtggggctctggccttcgaggacatctacattgagcagcggcgagtc
attcgcaccatcctagaatatgccgacaaggtcttcacctacatcttcatcatggagatg
ctgctcaaatgggtggcctacggctttaaggtgtacttcaccaacgcctggtgctggctc
gacttcctcatcgtggatgtctccatcatcagcttggtggccaactggctgggctactcg
gagctgggacccatcaaatccctgcggacactgcgggccctgcgtcccctgagggcactg
tcccgattcgagggcatgagggtggtggtgaacgccctcctaggcgccatcccctccatc
atgaatgtgctgcttgtctgcctcatcttctggctgatcttcagcatcatgggtgtcaac
ctgtttgccggcaagttctactactgcatcaacaccaccacctctgagaggttcgacatc
tccgaggtcaacaacaagtctgagtgcgagagcctcatgcacacaggccaggtccgctgg
ctcaatgtcaaggtcaactacgacaacgtgggtctgggctacctctccctcctgcaggtg
gccaccttcaagggttggatggacatcatgtatgcagccgtggactcccgggagaaggag
gagcagccgcagtacgaggtgaacctctacatgtacctctactttgtcatcttcatcatc
tttggctccttcttcaccctcaacctcttcattggcgtcatcattgacaacttcaaccag
cagaagaagaagttaggggggaaagacatctttatgacggaggaacagaagaaatactat
aacgccatgaagaagcttggctccaagaagcctcagaagccaattccccggccccagaac
aagatccagggcatggtgtatgacctcgtgacgaagcaggccttcgacatcaccatcatg
atcctcatctgcctcaacatggtcaccatgatggtggagacagacaaccagagccagctc
aaggtggacatcctgtacaacatcaacatgatcttcatcatcatcttcacaggggagtgc
gtgctcaagatgctcgccctgcgccagtactacttcaccgttggctggaacatctttgac
ttcgtggtcgtcatcctgtccattgtgggccttgccctctctgacctgatccagaagtac
ttcgtgtcacccacgctgttccgtgtgatccgcctggcgcggattgggcgtgtcctgcgg
ctgatccgcggggccaagggcatccggacgctgctgttcgccctcatgatgtcgctgcct
gccctcttcaacatcggcctcctcctcttcctggtcatgttcatctactccatcttcggc
atgtccaactttgcctacgtcaagaaggagtcgggcatcgatgatatgttcaacttcgag
accttcggcaacagcatcatctgcctgttcgagatcaccacgtcggccggctgggacggg
ctcctcaaccccatcctcaacagcgggcccccagactgtgaccccaacctggagaacccg
ggcaccagtgtcaagggtgactgcggcaacccctccatcggcatctgcttcttctgcagc
tatatcatcatctccttcctcatcgtggtcaacatgtacatcgccatcatcctggagaac
ttcaatgtggccacagaggagagcagcgagccccttggtgaagatgactttgagatgttc
tacgagacatgggagaagttcgaccccgacgccacccagttcatcgcctacagccgcctc
tcagacttcgtggacaccctgcaggaaccgctgaggattgccaagcccaacaagatcaag
ctcatcacactggacttgcccatggtgccaggggacaagatccactgcctggacatcctc
tttgccctgaccaaagaggtcctgggtgactctggggaaatggacgccctcaagcagacc
atggaggagaagttcatggcagccaacccctccaaggtgtcctacgagcccatcaccacc
accctcaagaggaagcacgaggaggtgtgcgccatcaagatccagagggcctaccgccgg
cacctgctacagcgctccatgaagcaggcatcctacatgtaccgccacagccacgacggc
agcggggatgacgcccctgagaaggaggggctgcttgccaacaccatgagcaagatgtat
ggccacgagaatgggaacagcagctcgccaagcccggaggagaagggcgaggcaggggac
gccggacccactatggggctgatgcccatcagcccctcagacactgcctggcctcccgcc
cctcccccagggcagactgtgcgcccaggtgtcaaggagtctcttgtctag

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