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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
HTRA2 - HtrA Serine Peptidase 2
Alias:
OMI
MGCA8
PARK13
PRSS25
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码丝氨酸蛋白酶。该蛋白质定位在内质网并与有丝分裂激活蛋白激酶14的可变剪接形式相互作用。该蛋白质也定位在线粒体上,在凋亡刺激后释放到细胞质中。该蛋白质被认为通过结合凋亡抑制蛋白含杆状病毒IAP重复序列的4来诱导凋亡。这个蛋白质的核定位也被观察到。这个基因的可变剪接导致多个转录变异体编码不同的异构体。[RefSeq,2016年3月提供]
Related ID:
NCBI:27429
ENSEMBL:ENSG00000115317
HGNC:14348
UNIPROT:O43464
OMIM:606441
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27429
4
8
4152 bp
48.84
225
3
7
22
HTRA2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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Abundance
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Interactions
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Type
Name
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Status
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Link
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References Literature
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No Data Found!
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