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中文人类
SPTBN2 - Spectrin Beta, Non-erythrocytic 2
Alias:
SCA5
SCAR14
GTRAP41
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细胞膜-细胞骨架的主要组成部分谱素是由两个α谱素和两个β谱素亚基组成的。这个基因（SPTBN2）编码的蛋白质被称为非红细胞谱素2或β-III谱素。它与β-II谱素基因相关，但不同，β-II谱素基因也称为非红细胞谱素1（SPTBN1）。SPTBN2通过稳定谷氨酸转运体EAAT4在质膜表面的表达来调节谷氨酸信号通路。这个基因的突变导致一种名为SCA5的脊髓小脑性共济失调，其特征是神经退行性变、进行性运动协调障碍、言语不清和眼球运动不协调。[RefSeq，2009年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SPTBN2 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
