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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Actn2 - actinin alpha 2
Alias:
1110008F24Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有多种功能,包括LIM结构域结合活性;核受体共激活物活性;和膜转运蛋白结合活性。参与心肌细胞发育;正向调节运输;和蛋白定位到质膜。在肌肉收缩的上游或内部发挥作用。位于Z带。在几个结构中表达,包括消化系统;心脏;四肢;肌肉;和躯干体节。这个基因的人类同源物与致心律失常右心室心肌病和扩张型心肌病1AA有关。与人类ACTN2(肌动蛋白α2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:11472
ENSEMBL:ENSMUSG00000052374
UNIPROT:Q9JI91
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11472
2
21
71302 bp
103.83
4
6
Actn2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Acting
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Type
Name
MGI
Strain of Origin
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References Literature
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