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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
SKIC2 - SKI2 Subunit Of Superkiller Complex
Alias:
HLP
170A
SKI2
DDX13
SKI2W
SKIV2
THES2
SKIV2L
SKIV2L1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
DEAD盒蛋白,以其保守基序Asp-Glu-Ala-Asp(DEAD)为特征,是潜在的RNA解旋酶。它们与许多涉及RNA二级结构改变的细胞过程有关,如翻译起始、核和线粒体剪接、核糖体和平剪接体的组装。根据它们的分布模式,这个家族的某些成员被认为参与胚胎发生、精子的发生和细胞生长和分裂。这个基因编码一个DEAD盒蛋白,这是酵母SKI2的人类同源物,可能通过阻止缺损poly(A) mRNA的翻译而参与抗病毒活性。这个基因位于主要组织相容性复合物的III类区域。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6499
ENSEMBL:ENSG00000204351
HGNC:10898
UNIPROT:Q15477
OMIM:600478
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6499
4
28
10577 bp
137.75
591
2
6
22
SKIC2 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
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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
PMID
Journal
Year
IF
No Data Found!
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