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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
UBE2K - Ubiquitin Conjugating Enzyme E2 K
Alias:
LIG
HIP2
HYPG
UBC1
E2-25K
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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泛素结合酶家族。这个蛋白质与指环手指蛋白质相互作用,可以泛素化亨廷顿蛋白,这是亨廷顿病的基因产物。这个蛋白质的已知功能包括在扩大的polyglutamine蛋白质聚集物形成中发挥作用,以及抑制polyglutamine疾病的细胞凋亡,以及在新生合成的MHC类I重链从内质网移位中的作用,以及参与泡沫细胞形成。已经在这个基因中鉴定出多种编码不同异型的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3093
ENSEMBL:ENSG00000078140
HGNC:4914
UNIPROT:P61086
OMIM:602846
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3093
9
7
84657 bp
22.41
1
--
5
22
UBE2K 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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Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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