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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
UBE2A - Ubiquitin Conjugating Enzyme E2 A
Alias:
UBC2
HHR6A
MRXSN
RAD6A
MRXS30
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
泛素化修饰蛋白质是一种重要的细胞机制,用于将异常或短寿命的蛋白质靶向降解。泛素化涉及至少三类酶:泛素-活化酶,泛素-结合酶和泛素-蛋白连接酶。这个基因编码E2泛素-结合酶家族的一员。这个酶是后复制DNA损伤修复所必需的,可能参与转录调控。这个基因的突变与认知障碍有关。可变剪接导致多个转录变异体。[RefSeq,2013年8月提供]
Related ID:
NCBI:7319
ENSEMBL:ENSG00000077721
HGNC:12472
UNIPROT:P49459
OMIM:312180
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7319
3
6
9861 bp
17.32
52
2
4
11
UBE2A 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)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Interactions
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Type
Name
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Mutations
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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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