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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
PILRA - Paired Immunoglobin Like Type 2 Receptor Alpha
Alias:
FDF03
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
细胞信号传导途径依赖于激活和抑制过程之间的动态相互作用。SHP-1介导的蛋白质酪氨酸残基去磷酸化在几个细胞信号传导途径的调节中起着核心作用。两类抑制性受体家族成员是带有免疫受体酪氨酸基抑制结构域(ITIM)的受体以及它们的非ITIM携带的激活对应物。通过SHP-1控制的细胞信号传导被认为是通过PILRalpha介导的抑制和PILRbeta介导的激活之间的平衡来实现的。这些成对的免疫球蛋白样受体基因以头部对尾的串联方式位于染色体7上。这个特定的基因编码受体对的携带ITIM的成员,它在抑制性作用中发挥作用。在这个位置已经观察到了可变剪接,并且描述了三种变异体,每个变异体编码一个独特的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:29992
ENSEMBL:ENSG00000085514
HGNC:20396
UNIPROT:Q9UKJ1
OMIM:605341
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
29992
5
7
28806 bp
34.01
12
--
8
7
PILRA Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* 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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Status
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Link
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References Literature
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