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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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SPINT2 - Serine Peptidase Inhibitor, Kunitz Type 2
Alias:
PB
Kop
HAI2
DIAR3
HAI-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有两个细胞外Kunitz结构域的跨膜蛋白,可抑制多种丝氨酸蛋白酶。该蛋白可抑制HGF激活剂,防止活性肝细胞生长因子的形成。这个基因是一个潜在的肿瘤抑制子,这个基因的突变导致先天性钠腹泻。已发现这个基因有多种转录变异体,编码不同的异构体。[RefSeq,2009年10月提供]
Related ID:
NCBI:10653
ENSEMBL:ENSG00000167642
HGNC:11247
UNIPROT:O43291
OMIM:605124
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10653
2
7
28043 bp
28.23
131
2
5
11
SPINT2 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
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
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Status
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Link
No data available
References Literature
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No Data Found!
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