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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
TINF2 - TERF1 Interacting Nuclear Factor 2
Alias:
TIN2
DKCA3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码保护端粒的telosome或shelterin复合物的蛋白质之一,允许细胞在端粒和DNA损伤区域之间进行区分。这个基因编码的蛋白质是shelterin复合物的关键组成部分,它与shelterin复合物的三个DNA结合蛋白质相互作用,对于复合物的组装非常重要。这个基因的突变导致骨髓衰竭综合征——先天性骨髓发育不良(DKC)。[RefSeq,2010年3月提供]
Related ID:
NCBI:26277
ENSEMBL:ENSG00000092330
HGNC:11824
UNIPROT:Q9BSI4
OMIM:604319
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26277
5
9
3035 bp
50.02
384
6
5
19
TINF2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
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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Related Mouse Models
Type
Name
MGI
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Status
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References Literature
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