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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
NFATC1 - Nuclear Factor Of Activated T Cells 1
Alias:
NFAT2
NFATc
NF-ATC
NF-ATc1.2
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物是激活T细胞核因子DNA结合转录复合物的组成部分。这个复合物至少由两个成分组成:一个在T细胞受体(TCR)刺激后转移到核内的预存在的胞质成分,以及一个诱导的核成分。属于这一转录因子家族的蛋白质在免疫应答过程中在诱导基因转录中起着中心作用。这个基因的产物是一个诱导的核成分。它作为免疫抑制药物如环孢素A的主要分子靶标发挥作用。已经在这个基因中鉴定出多个可变剪接转录变异体,它们编码不同的异构体。这个蛋白质的不同异构体可能调节不同细胞因子基因的诱导表达。[RefSeq,2013年7月提供]
Related ID:
NCBI:4772
ENSEMBL:ENSG00000131196
HGNC:7775
UNIPROT:O95644
OMIM:600489
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4772
12
10
133394 bp
101.24
149
--
20
18
NFATC1 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
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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