SCN8A
entrez
6334
canonical
uniprot
Q9UQD0
canonical
ensembl
ENSG00000196876
resolver
ensp
ENSP00000346534
resolver
ensp
ENSP00000440360
resolver
ensp
ENSP00000487583
resolver
ensp
ENSP00000499691
resolver
enst
ENST00000668547
resolver
genesymbol
SCN8A
resolver
genesymbol_syn
MED
resolver
hgnc
HGNC:10596
resolver
uniprot
A0A590UK43
resolver
uniprot
B9VWG8
resolver
uniprot
O95788
resolver
uniprot
Q6B4S4
resolver
uniprot
Q9NYX2
resolver
uniprot
Q9UPB2
resolver
uniprot_entry
A0A590UK43_HUMAN
resolver
uniprot_entry
Q6B4S4_HUMAN
resolver
uniprot_entry
SCN8A_HUMAN
resolver
uniprot_sec
B9VWG8
resolver
uniprot_sec
O95788
resolver
uniprot_sec
Q9NYX2
resolver
uniprot_sec
Q9UPB2
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by tetrodotoxin and, more weakly, by its metabolite 4,9-ah-tetrodotoxin. {ECO:0000269|PubMed:36823201}.
uniprot
proteins
amino_acid_sequence
MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQAHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIIDEDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIKPEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWFETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFFTNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLMEGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLVFVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPSVGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDATQFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSGELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKTTSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC
uniprot
proteins
disease_involvement
DISEASE: Cognitive impairment with or without cerebellar ataxia (CIAT) [MIM:614306]: A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. {ECO:0000269|PubMed:16236810}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 13 (DEE13) [MIM:614558]: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. DEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. {ECO:0000269|PubMed:22365152, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:24352161, ECO:0000269|PubMed:24874546, ECO:0000269|PubMed:24888894, ECO:0000269|PubMed:25239001, ECO:0000269|PubMed:25568300, ECO:0000269|PubMed:25725044, ECO:0000269|PubMed:25785782, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26900580, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27210545, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28923014}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Seizures, benign familial infantile, 5 (BFIS5) [MIM:617080]: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant. {ECO:0000269|PubMed:26677014, ECO:0000269|PubMed:27210545}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myoclonus, familial, 2 (MYOCL2) [MIM:618364]: An autosomal dominant neurologic disorder characterized by upper limb isolated myoclonus without seizures or cognitive impairment. MYOCL2 is a non-progressive disease with onset in the first decade of life. {ECO:0000269|PubMed:29726066}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradient (PubMed:24874546, PubMed:25239001, PubMed:25725044, PubMed:26900580, PubMed:29726066, PubMed:33245860, PubMed:36696443, PubMed:36823201). Contributes to neuronal excitability by regulating action potential threshold and propagation (PubMed:24874546, PubMed:25239001, PubMed:25725044, PubMed:26900580, PubMed:29726066, PubMed:33245860, PubMed:36696443, PubMed:36823201). {ECO:0000269|PubMed:24874546, ECO:0000269|PubMed:25239001, ECO:0000269|PubMed:25725044, ECO:0000269|PubMed:26900580, ECO:0000269|PubMed:29726066, ECO:0000269|PubMed:33245860, ECO:0000269|PubMed:36696443, ECO:0000269|PubMed:36823201}.; FUNCTION: [Isoform 5]: More specifically expressed in non-neuronal cells, could play a role in sodium release from intracellular compartments and participate in the control of podosomes formation and macrophages adhesion and movement. {ECO:0000269|PubMed:19136557}.
uniprot
proteins
mass_dalton
225280
uniprot
proteins
mutagenesis
MUTAGEN 1416..1417; /note="MD->TI: Reduced inhibition by 4,9-anhydro-tetrodotoxin."; /evidence="ECO:0000269|PubMed:36823201
uniprot
proteins
post_translational_modification
PTM: May be ubiquitinated by NEDD4L; which would promote its endocytosis. {ECO:0000250|UniProtKB:Q9WTU3}.; PTM: Phosphorylation at Ser-1497 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO:0000250}.
uniprot
proteins
protein_family
Nav1.6/SCN8A subfamily
uniprot
proteins
protein_family
Sodium channel (TC 1.A.1.10) family
uniprot
proteins
pubmed
15282281
uniprot
proteins
pubmed
16236810
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
19136557
uniprot
proteins
pubmed
22365152
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
24352161
uniprot
proteins
pubmed
24497506
uniprot
proteins
pubmed
24874546
uniprot
proteins
pubmed
24888894
uniprot
proteins
pubmed
25239001
uniprot
proteins
pubmed
25568300
uniprot
proteins
pubmed
25725044
uniprot
proteins
pubmed
25785782
uniprot
proteins
pubmed
25818041
uniprot
proteins
pubmed
26677014
uniprot
proteins
pubmed
26900580
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27210545
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
28428547
uniprot
proteins
pubmed
28842554
uniprot
proteins
pubmed
28923014
uniprot
proteins
pubmed
29726066
uniprot
proteins
pubmed
33245860
uniprot
proteins
pubmed
36696443
uniprot
proteins
pubmed
36823201
uniprot
proteins
pubmed
37117223
uniprot
proteins
pubmed
9295353
uniprot
proteins
pubmed
9828131
uniprot
proteins
sequence_length
1980
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29726066}; Multi-pass membrane protein {ECO:0000269|PubMed:36696443, ECO:0000269|PubMed:36823201}. Cell projection, axon {ECO:0000250|UniProtKB:Q9WTU3}. Note=Mainly localizes to the axon initial segment. {ECO:0000250|UniProtKB:Q9WTU3}.; SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasmic vesicle {ECO:0000269|PubMed:19136557}. Cell projection, podosome {ECO:0000269|PubMed:19136557}.
uniprot
proteins
transmembrane_region
TRANSMEM 133..151; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 159..179; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 194..211; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 218..234; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 254..273; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 388..408; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 754..772; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 784..803; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 818..837; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 840..857; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 874..892; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 956..976; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1200..1217; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1231..1249; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1264..1282; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1291..1309; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1327..1346; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1439..1460; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1524..1541; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1553..1571; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1584..1601; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1615..1631; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1651..1668; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1743..1765; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2
uniprot
proteins