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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
STING1 - Stimulator Of Interferon Response CGAMP Interactor 1
Alias:
ERIS
MITA
MPYS
SAVI
NET23
STING
hMITA
hSTING
TMEM173
STING-beta
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个五跨膜蛋白,作为对病毒和细菌感染的自然免疫反应的主要调节因子。编码的蛋白质是一种模式识别受体,可以检测胞浆核酸并传递激活I型干扰素反应的信号。该蛋白质还被证明通过与II型主要组织相容性复合体结合,在凋亡信号传导中发挥作用。这个基因的突变是导致婴儿起病的STING相关血管病变的原因。交替剪接导致多个转录变异体。[RefSeq,2014年9月提供]
Related ID:
NCBI:340061
ENSEMBL:ENSG00000184584
HGNC:27962
UNIPROT:Q86WV6
OMIM:612374
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
340061
3
8
7226 bp
42.19
252
3
37
67
STING1 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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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
PMID
Journal
Year
IF
No Data Found!
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