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20269 Scn3a

20269

Scn3a

sodium channel, voltage-gated, type III, alpha

protein-coding

Mus musculus

基因描述

Type Description
Definition sodium channel, voltage-gated, type III, alpha

研究结论

Date Results Publications
2019-08-24 12:14:00 Nav1.3 is expressed in neutrophils in vivo and regulates attachment, transmigration, and chemotaxis. 29509584
2019-07-06 11:11:00 enterochromaffin (EC) cells use Scn3a-encoded voltage-gated sodium channel NaV1.3 for electrical excitability and 5-HT release. NaV1.3-dependent electrical excitability and its contribution to 5-HT release is a novel mechanism of EC cell function 29142310
2018-02-24 11:44:00 Novel de novo variant SCN3A-L247P was demonstrated to cause a defect in trafficking, which would be predicted to functionally reduce SCN3A activity. Consistent with the clinical observations, Scn3a+/Hyp mice display increased seizure susceptibility, hypoactivity, and impaired motor learning. 28235671
2017-12-23 12:15:00 Scn3a was mapped to the QTL for febrile seizure susceptibility. 27690330
2016-03-12 11:08:00 a huge difference in electrophysiological function between SCN1A and SCN3A mutations in the pore region; this might explain the more common SCN1A mutations detected in patients with epilepsy and the more severe phenotypes associated with these mutations 24990319

名称对应

Type IDs
Synonymous Gm1000, Nav1.3
Gene
UniProtKB-ID: SCN3A_MOUSE, Q3UF73_MOUSE
UniprotKB: A2ASI5, Q3UF73
UniParc: UPI0000D777E6, UPI0005AB95ED, UPI00071EF7BA, UPI00005AC82A
EMBL: AK148881, AL772235, KM373690, AL928621, KM373689
Ensembl: ENSMUSG00000057182
KO: mmu:20269
Nucleutide sequences
EMBL-CDS: AIW80042.1, AIW80041.1, BAE28688.1
Ensembl_TRS: ENSMUST00000066432, ENSMUST00000100069
Protein sequencees
Ensembl_PRO: ENSMUSP00000065023, ENSMUSP00000097647
RefSeq: XP_006499094.1, NP_001342098.1, NP_001342097.1, NP_001342100.1, NP_001342095.1, NP_061202.3, NP_001342096.1, NP_001342099.1, XP_011237693.1
Others
UniRef100: UniRef100_A2ASI5, UniRef100_Q3UF73
UniRef90: UniRef90_Q3UF73, UniRef90_Q9NY46
UniRef50: UniRef50_Q9NY46
UniGene: Mm.330256
CCDS: CCDS50596.1

全选

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