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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
ACTA2 - Actin Alpha 2, Smooth Muscle
Alias:
ACTSA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码六种不同肌动蛋白蛋白质之一。肌动蛋白是高度保守的蛋白质,参与细胞迁移、结构、完整性和细胞间信号传导。编码的蛋白质是一种平滑肌肌动蛋白,参与血管收缩性和血压稳态。这个基因的突变导致各种血管疾病,如胸主动脉疾病、冠状动脉疾病、中风和Moyamoya病,以及多系统平滑肌功能障碍综合征。[RefSeq,2017年9月提供]
Related ID:
NCBI:59
ENSEMBL:ENSG00000107796
HGNC:130
UNIPROT:P62736
OMIM:102620
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
59
11
9
56264 bp
42.01
476
9
6
19
ACTA2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
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
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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