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6326 SCN2A

6326

SCN2A

sodium voltage-gated channel alpha subunit 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition sodium voltage-gated channel alpha subunit 2

研究结论

Date Results Publications
2021-01-09 13:26:00 Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy. 32185219
2020-12-05 13:03:00 Differential Inhibition of Human Nav1.2 Resurgent and Persistent Sodium Currents by Cannabidiol and GS967. 32244818
2020-10-24 14:12:00 Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy. 32845893
2020-06-27 11:24:00 Genotype or allelic frequencies of SCN2A c.56 G > A gene polymorphism did not significantly differ for AG or GG genotypes in the non-responders vs. responders 31707316
2020-05-09 13:52:00 different epileptogenic point mutations in hNav1.2 have distinct biophysical effects on the channel, but also illustrates that individual mutations can have complex consequences that are difficult to identify using conventional analyses 31558572

名称对应

Type IDs
Synonymous BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2
Gene
UniProtKB-ID: SCN2A_HUMAN
UniprotKB: Q99250
UniParc: UPI000002A663, UPI00001279C9
EMBL: AF327238, AF327246, AC011303, AF327236, AF327240, AF327232, AF327239, AF327233, AF327245, AF327234, AF327235, AC013438, X65361, M91804, M94055, AF327230, AF327237, AF327244, AF327241, AF327228, AF327242, AF327243, M55662, AF327231, AF327226, AF059683, AF327227, AF327229
Ensembl: ENSG00000136531
KO: hsa:6326
Nucleutide sequences
EMBL-CDS: AAG53413.1, AAA18895.1, CAA46438.1, AAG53412.1, AAB65854.2, AAC14574.1, AAY14971.1
Ensembl_TRS: ENST00000637266, ENST00000636071, ENST00000631182, ENST00000283256, ENST00000375437, ENST00000375427
Protein sequencees
Ensembl_PRO: ENSP00000283256, ENSP00000364576, ENSP00000490107, ENSP00000490866, ENSP00000486885, ENSP00000364586
RefSeq: NP_001035233.1, NP_001358176.1, XP_016860147.1, NP_066287.2, XP_016860145.1, XP_024308805.1, NP_001358175.1, NP_001035232.1, XP_016860148.1, XP_016860146.1
Others
UniRef100: UniRef100_Q99250
UniRef90: UniRef90_Q99250
UniRef50: UniRef50_Q99250
UniGene: Hs.93485
CCDS: CCDS33313.1, CCDS33314.1

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