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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
IL6ST - Interleukin 6 Cytokine Family Signal Transducer
Alias:
CD130
GP130
HIES4
IMD94
STWS2
CDW130
HIES4A
HIES4B
IL-6RB
sGP130
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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一种信号转导子,被许多细胞因子所共享,包括白细胞介素6(IL6)、睫状神经营养因子(CNTF)、白血病抑制因子(LIF)和肿瘤抑制素M(OSM)。这个蛋白质作为细胞因子受体复合物的一部分发挥作用。这个蛋白质的激活依赖于细胞因子与其受体的结合。vIL6是一种与IL6相关的蛋白质,由Kaposi肉瘤相关疱疹病毒编码,可以绕过白细胞介素6受体(IL6R)并直接激活这个蛋白质。小鼠的敲除研究表明,这个基因在调节肌细胞凋亡中起着关键作用。已经描述了可变剪接的转录变异体。在染色体17上已经发现了相关的假基因。[由RefSeq,2014年5月提供]
Related ID:
NCBI:3572
ENSEMBL:ENSG00000134352
HGNC:6021
UNIPROT:P40189
OMIM:600694
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3572
8
17
59869 bp
103.54
315
7
16
41
IL6ST Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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