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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
SF3B2 - Splicing Factor 3b Subunit 2
Alias:
CFM
HFM
Cus1
SF3b1
SAP145
SF3B145
SF3b150
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码剪接因子3b蛋白复合物的亚基2。剪接因子3b与剪接因子3a和12S RNA单元一起形成U2小核核糖核蛋白复合物(U2 snRNP)。剪接因子3b/3a复合物以独立于序列的方式结合在分支位点上游的预mRNA上,并可能将U2 snRNP锚定在预mRNA上。剪接因子3b也是次要U12型剪接体的主要成分。亚基2在锚定点处与分支位点上游的预mRNA结合。亚基2还直接与剪接因子3b复合物的亚基4相互作用。亚基2是一个具有富脯氨酸N端和富谷氨酸C端的亲水性蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10992
ENSEMBL:ENSG00000087365
HGNC:10769
UNIPROT:Q13435
OMIM:605591
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10992
4
22
16945 bp
100.23
36
1
4
38
SF3B2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Name
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Status
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References Literature
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