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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
STAT2 - Signal Transducer And Activator Of Transcription 2
Alias:
P113
IMD44
ISGF-3
PTORCH3
STAT113
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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。响应干扰素(IFN),这个蛋白质与STAT1和IFN调节因子家族蛋白质p48(ISGF3G)形成复合物,其中这个蛋白质作为转激活子发挥作用,但缺乏直接结合DNA的能力。这个蛋白质介导天生的抗病毒活性。这个基因的突变导致免疫缺陷44。[由RefSeq,2020年8月提供]
Related ID:
NCBI:6773
ENSEMBL:ENSG00000170581
HGNC:11363
UNIPROT:P52630
OMIM:600556
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6773
15
24
18511 bp
97.92
393
3
11
39
STAT2 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
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Interactions
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Acting
Regulation
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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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