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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
CD3D - CD3 Delta Subunit Of T-cell Receptor Complex
Alias:
T3D
IMD19
CD3DELTA
CD3-DELTA
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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T细胞受体/CD3复合物(TCR/CD3复合物)的一部分,参与T细胞发育和信号传导。编码的膜蛋白代表CD3复合物的delta亚基,与四个其他CD3亚基一起结合TCR alpha/beta或TCR gamma/delta,在T细胞表面形成TCR/CD3复合物。这个基因的缺陷是导致严重联合免疫缺陷的常染色体隐性T细胞阴性/B细胞阳性/NK细胞阳性(SCIDBNK)的原因。已经发现这个基因有两个编码不同异型的转录变异体。可能还有其他变异体,但它们的转录全长尚未确定。[由RefSeq,2009年2月提供]
Related ID:
NCBI:915
ENSEMBL:ENSG00000167286
HGNC:1673
UNIPROT:P04234
OMIM:186790
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
915
2
5
3752 bp
18.93
139
2
3
21
CD3D 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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Type
Name
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CAS Number
Status
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Link
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References Literature
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IF
No Data Found!
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