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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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STAT1 - Signal Transducer And Activator Of Transcription 1
Alias:
CANDF7
IMD31A
IMD31B
IMD31C
ISGF-3
STAT91
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是STAT蛋白质家族的一员。响应细胞因子和生长因子,STAT家族成员被受体相关激酶磷酸化,然后形成同源或异源二聚体,转移到细胞核中作为转录激活子发挥作用。这个基因编码的蛋白质可以由各种配体激活,包括干扰素-α、干扰素-γ、EGF、PDGF和IL6。这个蛋白质调节各种基因的表达,被认为对于响应不同的细胞刺激和病原体对细胞存活很重要。这个蛋白质在针对病毒、真菌和分支杆菌病原体的免疫应答中扮演重要角色。这个基因的突变与免疫缺陷31B、31A和31C有关。[由RefSeq,2020年6月提供]
Related ID:
NCBI:6772
ENSEMBL:ENSG00000115415
HGNC:11362
UNIPROT:P42224
OMIM:600555
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6772
15
25
45023 bp
87.33
519
8
28
69
STAT1 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
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Cell-specific RNA expression
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Regulation
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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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