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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
DNASE2 - Deoxyribonuclease 2, Lysosomal
Alias:
DNL
DNL2
AIPCS
DNASE2A
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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DNase家族的一员。这种蛋白质位于溶酶体中,在酸性条件下水解DNA,并在红细胞生成和凋亡过程中参与DNA的分解。已经鉴定出了两个共显性的等位基因,DNASE2*L(低活性)和DNASE2*H(高活性),它们在启动子区域的单个核苷酸上有所不同。此记录中代表了DNASE2*H等位基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1777
ENSEMBL:ENSG00000105612
HGNC:2960
UNIPROT:O00115
OMIM:126350
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1777
1
6
6241 bp
39.58
132
1
2
17
DNASE2 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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Interactions
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Acting
Regulation
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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
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