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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
NEIL2 - Nei Like DNA Glycosylase 2
Alias:
NEH2
NEI2
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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Fpg/Nei家族的一员,这个家族的DNA糖基化酶。这些糖基化酶启动切除修复的第一步,通过切割氧化损伤的碱基并通过它们的脱碱基位点裂解活性引入DNA链断裂。这种酶主要与转录期间的DNA修复相关,并优先作用于胞嘧啶来源的损伤,特别是5-羟基尿嘧啶和5-羟基胞嘧啶。它包含一个N-端催化结构域,一个铰链区域,和一个C-端DNA结合结构域,具有螺旋-两转-螺旋和锌指模式。这种酶与X射线互补因子1支架蛋白相互作用,作为多蛋白DNA修复复合物的一部分。已经发现了这个基因的假基因。[RefSeq,2017年3月提供]
Related ID:
NCBI:252969
ENSEMBL:ENSG00000154328
HGNC:18956
UNIPROT:Q969S2
OMIM:608933
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
252969
8
5
17636 bp
36.83
30
--
6
11
NEIL2 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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Acting
Regulation
Detail
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Target
Residues
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
Phase
Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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