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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
CLIP2 - CAP-Gly Domain Containing Linker Protein 2
Alias:
CLIP
CYLN2
WSCR3
WSCR4
WBSCR3
WBSCR4
CLIP-115
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于细胞质接合蛋白家族,被认为在特定膜性细胞器和微管之间相互作用。这个蛋白质与微管和一个称为树突状层状体的细胞器相关。这个基因在威廉斯综合症中非整倍体缺失,这是一种由7q11.23处相邻基因缺失引起的多系统发育紊乱。这个基因的可变剪接产生了两种转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7461
ENSEMBL:ENSG00000106665
HGNC:2586
UNIPROT:Q9UDT6
OMIM:603432
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7461
3
17
116529 bp
115.84
60
1
4
13
CLIP2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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Status
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Link
No data available
References Literature
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IF
No Data Found!
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