SCN2A
entrez
6326
canonical
uniprot
Q99250
canonical
ensembl
ENSG00000136531
resolver
ensp
ENSP00000283256
resolver
ensp
ENSP00000364586
resolver
ensp
ENSP00000486885
resolver
ensp
ENSP00000490107
resolver
ensp
ENSP00000490866
resolver
genesymbol
SCN2A
resolver
genesymbol_syn
HBA
resolver
genesymbol_syn
NAC2
resolver
genesymbol_syn
SCN2A1
resolver
genesymbol_syn
SCN2A2
resolver
hgnc
HGNC:10588
resolver
uniprot
A6NC14
resolver
uniprot
A6NIQ5
resolver
uniprot
Q14472
resolver
uniprot
Q53T77
resolver
uniprot
Q9BZC9
resolver
uniprot
Q9BZD0
resolver
uniprot_entry
SCN2A_HUMAN
resolver
uniprot_sec
A6NC14
resolver
uniprot_sec
A6NIQ5
resolver
uniprot_sec
Q14472
resolver
uniprot_sec
Q53T77
resolver
uniprot_sec
Q9BZC9
resolver
uniprot_sec
Q9BZD0
resolver
amino_acid_sequence
MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGKSLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRKLAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGIGVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFSLEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHSTFEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGPSTLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEESRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCLTVFMMVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRKIREFIQKAFVRKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGSSVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSSSEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKTCYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVVNNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMTNILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYLLKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTKPEKEKFEKDKSEKEDKGKDIRESKK
uniprot
proteins
disease_involvement
DISEASE: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]: 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. BFIS3 inheritance is autosomal dominant. {ECO:0000269|PubMed:11371648, ECO:0000269|PubMed:12243921, ECO:0000269|PubMed:15048894, ECO:0000269|PubMed:16417554, ECO:0000269|PubMed:17021166, ECO:0000269|PubMed:17386050, ECO:0000269|PubMed:18479388, ECO:0000269|PubMed:20371507, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23360469, ECO:0000269|PubMed:23758435, ECO:0000269|PubMed:25982755, ECO:0000269|PubMed:26291284, ECO:0000269|PubMed:29844171, ECO:0000269|PubMed:30144217}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721]: An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269|PubMed:19783390, ECO:0000269|PubMed:19786696, ECO:0000269|PubMed:20956790, ECO:0000269|PubMed:22677033, ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23195492, ECO:0000269|PubMed:23550958, ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:23935176, ECO:0000269|PubMed:23988467, ECO:0000269|PubMed:24463883, ECO:0000269|PubMed:24579881, ECO:0000269|PubMed:24659627, ECO:0000269|PubMed:24710820, ECO:0000269|PubMed:25457084, ECO:0000269|PubMed:25459969, ECO:0000269|PubMed:25772804, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26138355, ECO:0000269|PubMed:26291284, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:29625812, ECO:0000269|PubMed:29844171, ECO:0000269|PubMed:30144217, ECO:0000269|PubMed:30415926}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in SCN2A are associated with genetic epilepsy with febrile seizures plus (GEFS+), a familial autosomal dominant epilepsy syndrome, a clinical subset of febrile seizures, characterized by frequent episodes after 6 years of age and various types of subsequent epilepsy. {ECO:0000269|PubMed:29635106}.; DISEASE: Note=Defects in SCN2A are associated with autism spectrum disorders (ASD). It seems that mutations resulting in sodium channel gain of function and increased neuron excitability lead to infantile seizures, whereas variants resulting in sodium channel loss of function and decrease neuron excitability are associated with ASD. {ECO:0000269|PubMed:28256214}.; DISEASE: Episodic ataxia 9 (EA9) [MIM:618924]: An autosomal dominant neurologic disorder characterized by episodic ataxia manifesting in the first years of life, early-onset seizures, difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The duration of ataxic episodes is heterogeneous. Most patients show episodes lasting minutes to maximum several hours, but periods lasting days up to weeks have been reported. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. {ECO:0000269|PubMed:26645390, ECO:0000269|PubMed:27159988, ECO:0000269|PubMed:27328862, ECO:0000269|PubMed:28065826}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By similarity). {ECO:0000250|UniProtKB:B1AWN6, ECO:0000269|PubMed:1325650, ECO:0000269|PubMed:17021166, ECO:0000269|PubMed:28256214, ECO:0000269|PubMed:29844171}.
uniprot
proteins
mass_dalton
227975
uniprot
proteins
post_translational_modification
PTM: May be ubiquitinated by NEDD4L; which would promote its endocytosis. {ECO:0000250}.; PTM: Phosphorylation at Ser-1506 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO:0000250}.; PTM: Sumoylated at Lys-38. Sumoylation is induced by hypoxia, increases voltage-gated sodium current and mediates the early response to acute hypoxia in neurons. Sumoylated SCN2A is located at the cell membrane. {ECO:0000250|UniProtKB:P04775}.
uniprot
proteins
protein_family
Nav1.2/SCN2A subfamily
uniprot
proteins
protein_family
Sodium channel (TC 1.A.1.10) family
uniprot
proteins
pubmed
11245985
uniprot
proteins
pubmed
11371648
uniprot
proteins
pubmed
11738931
uniprot
proteins
pubmed
12243921
uniprot
proteins
pubmed
12610651
uniprot
proteins
pubmed
1317301
uniprot
proteins
pubmed
1325650
uniprot
proteins
pubmed
15028761
uniprot
proteins
pubmed
15048894
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16122630
uniprot
proteins
pubmed
16417554
uniprot
proteins
pubmed
17021166
uniprot
proteins
pubmed
17386050
uniprot
proteins
pubmed
1846440
uniprot
proteins
pubmed
18479388
uniprot
proteins
pubmed
19783390
uniprot
proteins
pubmed
19786696
uniprot
proteins
pubmed
20371507
uniprot
proteins
pubmed
20956790
uniprot
proteins
pubmed
22591750
uniprot
proteins
pubmed
22612257
uniprot
proteins
pubmed
22677033
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
23195492
uniprot
proteins
pubmed
23360469
uniprot
proteins
pubmed
23550958
uniprot
proteins
pubmed
23662938
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
23758435
uniprot
proteins
pubmed
23827426
uniprot
proteins
pubmed
23935176
uniprot
proteins
pubmed
23988467
uniprot
proteins
pubmed
24297919
uniprot
proteins
pubmed
24463883
uniprot
proteins
pubmed
24497506
uniprot
proteins
pubmed
24579881
uniprot
proteins
pubmed
24659627
uniprot
proteins
pubmed
24710820
uniprot
proteins
pubmed
25457084
uniprot
proteins
pubmed
25459969
uniprot
proteins
pubmed
25772804
uniprot
proteins
pubmed
25818041
uniprot
proteins
pubmed
25969726
uniprot
proteins
pubmed
25982755
uniprot
proteins
pubmed
26138355
uniprot
proteins
pubmed
26291284
uniprot
proteins
pubmed
26311622
uniprot
proteins
pubmed
26555645
uniprot
proteins
pubmed
26637798
uniprot
proteins
pubmed
26645390
uniprot
proteins
pubmed
26894959
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27159988
uniprot
proteins
pubmed
27328862
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
28065826
uniprot
proteins
pubmed
28256214
uniprot
proteins
pubmed
28428547
uniprot
proteins
pubmed
28709814
uniprot
proteins
pubmed
29625812
uniprot
proteins
pubmed
29635106
uniprot
proteins
pubmed
29844171
uniprot
proteins
pubmed
30062040
uniprot
proteins
pubmed
30144217
uniprot
proteins
pubmed
30165711
uniprot
proteins
pubmed
30415926
uniprot
proteins
pubmed
30765605
uniprot
proteins
pubmed
37117223
uniprot
proteins
sequence_length
2005
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1325650, ECO:0000269|PubMed:17021166, ECO:0000269|PubMed:29844171}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 130..148; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 156..176; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 191..208; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 215..231; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 251..270; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 402..422; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 760..778; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 790..809; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 824..843; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 846..863; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 880..898; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 962..982; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1210..1227; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1241..1259; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1274..1292; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1301..1319; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1337..1356; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1448..1469; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1533..1550; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1562..1580; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1593..1610; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1624..1640; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1660..1677; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2"; TRANSMEM 1753..1775; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000250|UniProtKB:D0E0C2
uniprot
proteins