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中文人类
SCN2A - Sodium Voltage-gated Channel Alpha Subunit 2
Alias:
EA9
HBA
NAC2
BFIC3
BFIS3
BFNIS
DEE11
HBSCI
EIEE11
HBSCII
Nav1.2
SCN2A1
SCN2A2
Na(v)1.2
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电压门控钠通道是由一个大的α亚基和一个或多个调节性β亚基组成的跨膜糖蛋白复合物，每个α亚基由六个跨膜段组成。电压门控钠通道在神经元和肌肉中产生和传播动作电位。此基因编码钠通道α亚基基因家族的一个成员。此基因的等位变异与癫痫发作和自闭症谱系障碍有关。可变剪接导致多种转录变体。[由RefSeq提供，2016年11月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SCN2A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
