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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
USP2 - Ubiquitin Specific Peptidase 2
Alias:
USP9
UBP41
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码去泛素酶家族的一员,属于肽酶C19超家族。编码的蛋白质是一种泛素特异性蛋白酶,是TNF-α(肿瘤坏死因子α)诱导的NF-kB(核因子kB)信号通路所必需的。这种蛋白质可以去除多泛素化靶蛋白,如脂肪酸合成酶、小鼠双分钟2(MDM2)、MDM4/MDMX和细胞周期蛋白D1。MDM2和MDM4是p53肿瘤抑制因子的负调控因子,而细胞周期蛋白D1是细胞周期G1/S过渡所必需的。已经识别出多种可变剪接转录变异体,它们编码不同的异构体。[由RefSeq,2011年8月提供]
Related ID:
NCBI:9099
ENSEMBL:ENSG00000036672
HGNC:12618
UNIPROT:O75604
OMIM:604725
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9099
6
13
26476 bp
68.07
27
--
9
9
USP2 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
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Abundance
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
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Related Drugs
Name
CAS Number
Status
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Link
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References Literature
Title
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Journal
Year
IF
No Data Found!
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