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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
CTLA4 - Cytotoxic T-lymphocyte Associated Protein 4
Alias:
CD
GSE
GRD4
ALPS5
CD152
CTLA-4
IDDM12
CELIAC3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是免疫球蛋白超家族的成员,编码一种将抑制信号传递到T细胞的蛋白质。该蛋白质包含一个V结构域,一个跨膜结构域和一个胞质尾。已表征了编码不同异构体的替代转录剪接变体。膜结合的异构体作为通过二硫键互连的同源二聚体发挥作用,而可溶性的异构体作为单体发挥作用。这个基因的突变与胰岛素依赖性糖尿病、格雷夫斯病、桥本甲状腺炎、乳糜泻病、系统性红斑狼疮、甲状腺相关眼眶病以及其他自身免疫性疾病有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1493
ENSEMBL:ENSG00000163599
HGNC:2505
UNIPROT:P16410
OMIM:123890
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1493
2
4
6195 bp
24.66
195
9
12
32
CTLA4 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
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Interactions
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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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