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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
NCKIPSD - NCK Interacting Protein With SH3 Domain
Alias:
DIP
DIP1
ORF1
WISH
VIP54
AF3P21
SPIN90
WASLBP
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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含有核定位信号。它在信号传导中发挥作用,可能参与肌节维持和肌原纤维组装成肌节。它还在应力纤维形成中发挥作用。这个蛋白质参与树突状棘的形成和维护,并调节神经元的突触活动。该基因通过涉及这个基因和髓系/淋巴细胞白血病基因的染色体易位t(3;11)(p21;q23)参与治疗相关白血病。可变剪接导致这个基因的多个转录变异体。[RefSeq,2019年8月提供]
Related ID:
NCBI:51517
ENSEMBL:ENSG00000213672
HGNC:15486
UNIPROT:Q9NZQ3
OMIM:606671
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51517
2
13
12072 bp
78.96
35
--
5
15
NCKIPSD Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
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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
Reset
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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