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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
IL12RB2 - Interleukin 12 Receptor Subunit Beta 2
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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I型跨膜蛋白,被鉴定为白细胞介素12受体复合物的亚单位。这个基因与IL12RB1蛋白的共同表达可以形成高亲和力的IL12结合位点,并重建IL12依赖的信号传导。这个基因在Th1细胞中由干扰素γ上调表达,并在Th1细胞分化中发挥作用。这个基因的上调表达与许多感染性疾病(如克罗恩病和麻疯病)有关,被认为有助于炎症反应和宿主防御。这个基因的几个转录变异体编码不同的异构体和非编码蛋白质的转录本已经被发现。[由RefSeq,2012年4月提供]
Related ID:
NCBI:3595
ENSEMBL:ENSG00000081985
HGNC:5972
UNIPROT:Q99665
OMIM:601642
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3595
18
17
91361 bp
97.14
342
--
10
10
IL12RB2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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