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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
SOCS2 - Suppressor Of Cytokine Signaling 2
Alias:
CIS2
SSI2
Cish2
SSI-2
SOCS-2
STATI2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码细胞因子信号抑制子(SOCS)家族的一员。SOCS家族成员是细胞因子受体的负调控因子,通过Janus激酶/信号转导子和激活子(JAK/STAT)途径调控细胞因子受体信号。SOCS家族蛋白与信号复合物的分子相互作用,通过泛素化介导蛋白酶体降解受体或信号转导蛋白,从而阻断信号传导。这个基因的表达可以由一些细胞因子诱导,包括红细胞生成素、GM-CSF、IL10、干扰素(IFN)-γ和生长因子受体等。这个基因编码的蛋白质与胰岛素样生长因子-1受体(IGF1R)的胞质结构域相互作用,被认为参与调控IGF1R介导的细胞信号传导。这个基因在染色体20和22上存在假基因。可变剪接导致多个转录变异体。[RefSeq,2012年7月提供]
Related ID:
NCBI:8835
ENSEMBL:ENSG00000120833
HGNC:19382
UNIPROT:O14508
OMIM:605117
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8835
17
2
56268 bp
22.17
11
--
7
11
SOCS2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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