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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
人类
DCTN2 - Dynactin Subunit 2
Alias:
RBP50
DCTN50
HEL-S-77
DYNAMITIN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码动蛋白的一个50kD亚基,动蛋白是一个由大小在22到150kD之间的10-11个亚基组成的大分子复合物。动蛋白结合微管和细胞质动力蛋白。它涉及多种细胞功能,包括ER到高尔基体的运输,溶酶体和内体向心运动,纺锤体形成,染色体运动,核定位和轴突生成。每个动蛋白分子中存在4-5个该亚基拷贝。它包含三个短的α-螺旋螺旋域,可能调节与自身或其他动蛋白亚基的结合。它可能直接与动蛋白的最大亚基(p150)相互作用,并将p150固定在原位。已经发现这个基因的多个可变剪接转录变异体,编码不同的异构体。[RefSeq提供,2012年5月]
Related ID:
NCBI:10540
ENSEMBL:ENSG00000175203
HGNC:2712
UNIPROT:Q13561
OMIM:607376
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10540
8
14
17142 bp
44.23
9
1
6
19
DCTN2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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