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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
TOP2B - DNA Topoisomerase II Beta
Alias:
BILU
TOPIIB
top2beta
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种DNA拓扑异构酶,这是一种在转录过程中控制和改变DNA拓扑状态的酶。这种核酶参与染色体浓缩、染色质分离和缓解DNA转录和复制过程中发生的扭转应力等过程。它催化双链DNA的两条链短暂断裂和重新连接,使这些链能够穿过彼此,从而改变DNA的拓扑结构。这种酶的两种形式可能是基因复制事件的产物。编码这种形式的基因(β)位于染色体3上,而α形式位于染色体17上。编码这种酶的基因作为几种抗癌剂的目标,并且该基因中的一些变异与药物抗药性的发展有关。这种酶活性降低也可能与Ataxia-telangiectasia有关。可变剪接导致多个转录变异体。[RefSeq,2016年8月提供]
Related ID:
NCBI:7155
ENSEMBL:ENSG00000077097
HGNC:11990
UNIPROT:Q02880
OMIM:126431
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7155
5
36
67003 bp
183.27
576
2
6
37
TOP2B 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)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
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No data available
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CAS Number
Status
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Link
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References Literature
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IF
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