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
Drug target
Quinidine [DG:DG00192]: 
Procainamide [DG:DG00193]: 
Disopyramide [DG:DG00194]: 
Ajmaline: 
Lidocaine [DG:DG00196]: 
Mexiletine [DG:DG00197]: 
Tocainide [DG:DG00198]: 
Aprindine [DG:DG00199]: 
Propafenone [DG:DG00200]: 
Flecainide [DG:DG00201]: 
Encainide [DG:DG00203]: 
Bunaftine: 
Moracizine [DG:DG00208]: 
Cibenzoline [DG:DG00209]: 
Tetracaine [DG:DG00296]: 
Benzocaine: 
Cinchocaine [DG:DG00297]: 
Procaine [DG:DG00298]: 
Aminobenzoic acid [DG:DG00379]: 
Chloroprocaine [DG:DG00800]: 
Bupivacaine [DG:DG00801]: 
Mepivacaine [DG:DG00802]: 
Ropivacaine [DG:DG00806]: 
Levobupivacaine [DG:DG00807]: 
Cocaine [DG:DG00808]: 
Dyclonine [DG:DG00809]: 
Phenytoin [DG:DG00846]: 
Mephenytoin: 
Fosphenytoin [DG:DG00847]: 
Carbamazepine: 
Oxcarbazepine: 
Eslicarbazepine [DG:DG00848]: 
Lamotrigine: 
Topiramate: 
Zonisamide: 
Ambroxol [DG:DG01073]: 
Proxymetacaine [DG:DG01145]: 
Other: 
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: 
HPRD: 
Ensembl: 
Vega: 
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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