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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
DNM2 - Dynamin 2
Alias:
DYN2
CMT2M
DYNII
LCCS5
CMTDI1
CMTDIB
DI-CMTB
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
动态蛋白(Dynamins)是GTP结合蛋白的一个亚家族。这些蛋白在分子N端部分具有很高的序列相似性,该部分包含GTP酶结构域。动态蛋白与微管相关联。它们参与细胞过程,如内吞作用和细胞迁移,以及伴随某些活动(如破骨细胞骨吸收)的膜变化。动态蛋白结合许多与肌动蛋白和其他细胞骨架蛋白结合的蛋白质。动态蛋白还可以自组装,刺激GTP酶活性的过程。已经描述了五种编码不同蛋白质的可变剪接转录本。可能还存在其他可变剪接转录本,但其全长性质尚未确定。[RefSeq,2010年6月提供]
Related ID:
NCBI:1785
ENSEMBL:ENSG00000079805
HGNC:2974
UNIPROT:P50570
OMIM:602378
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1785
5
21
113825 bp
98.06
1063
6
17
41
DNM2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
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Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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