| Type | Description |
|---|---|
| Definition | sodium voltage-gated channel alpha subunit 8 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:27:00 | Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse. | 33140451 |
| 2021-02-20 13:30:00 | Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons. | 32968789 |
| 2021-02-13 13:29:00 | Distinct functional alterations in SCN8A epilepsy mutant channels. | 31715021 |
| 2021-01-23 13:01:00 | CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability. | 32611770 |
| 2021-01-16 15:59:00 | SCN8A heterozygous variants are associated with anoxic-epileptic seizures. | 32040247 |
| Type | IDs |
|---|---|
| Synonymous | BFIS5, CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4 |
| Gene |
UniProtKB-ID:
SCN8A_HUMAN,
Q6B4S4_HUMAN
UniprotKB:
Q9UQD0,
Q6B4S4
UniParc:
UPI00001BB3CF,
UPI00001BB3D0,
UPI00001BB3CE,
UPI00004034C5,
UPI000006FD85,
UPI0001BFFE45
EMBL:
AF050728,
AF225988,
AF050729,
AC025097,
AF050735,
AF049618,
AF050714,
AF050733,
AF050717,
AF050718,
AF050725,
AC068987,
FJ611941,
AF050712,
AF050730,
AF050736,
AF050723,
AF050720,
AF050726,
AF050715,
AC013421,
AF050732,
AF050721,
AF050711,
AC140060,
AF050727,
AF050719,
AF050734,
AF050724,
AF050731,
AF050722,
AF050713,
AF050716,
AY682081,
AB027567
Ensembl:
ENSG00000196876
KO:
hsa:6334
|
| Nucleutide sequences |
EMBL-CDS:
AAD15789.1,
ACM63162.1,
AAD20439.1,
AAF35390.1,
BAA78033.1,
AAT85830.1
Ensembl_TRS:
ENST00000545061,
ENST00000355133,
ENST00000662684,
ENST00000627620,
ENST00000599343,
ENST00000354534
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000487583,
ENSP00000499636,
ENSP00000346534,
ENSP00000476447,
ENSP00000347255,
ENSP00000440360
RefSeq:
NP_001317189.1,
NP_001356717.1,
NP_001171455.1,
NP_055006.1
|
| Others |
UniRef100:
UniRef100_A0A2K6MA91,
UniRef100_Q9UQD0
UniRef90:
UniRef90_Q9UQD0
UniRef50:
UniRef50_Q9UQD0
UniGene:
Hs.436550,
Hs.710638
CCDS:
CCDS53794.1,
CCDS81692.1,
CCDS44891.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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