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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
N4BP2 - NEDD4 Binding Protein 2
Alias:
B3BP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个蛋白质,其N端附近含有聚核苷酸激酶结构域(PNK),C端附近含有Small MutS相关(Smr)结构域。编码的蛋白质可以与B细胞白血病/淋巴瘤3(BCL-3)和神经前体细胞表达、发育性下调4(Nedd4)蛋白结合。该蛋白质可以结合并水解ATP,可以作为5'-聚核苷酸激酶发挥作用,并具有被泛素化底物的潜力。该蛋白质可能在转录偶联DNA修复或遗传重组中发挥作用。可变剪接产生多种转录变异体,编码不同的异构体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:55728
ENSEMBL:ENSG00000078177
HGNC:29851
UNIPROT:Q86UW6
OMIM:619139
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55728
11
18
133621 bp
198.80
72
--
2
8
N4BP2 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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Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
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IF
No Data Found!
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