IFNAR2 (interferon alpha and beta receptor subunit 2)

symbol:
IFNAR2
locus group:
protein-coding gene
location:
21q22.11
gene_family:
Interferon receptors
alias symbol:
None
alias name:
interferon alpha/beta receptor 2|I…
entrez id:
3455
ensembl gene id:
ENSG00000159110
ucsc gene id:
uc002yre.5
refseq accession:
NM_000874
hgnc_id:
HGNC:5433
approved reserved:
1995-05-08
21q22.11
基因染色体位置图

IFNAR2(干扰素α/β受体2)是干扰素受体家族的重要成员,与IFNAR1共同组成I型干扰素(IFN-α/β)的功能性受体复合物。该基因位于人类21号染色体上,编码的跨膜蛋白通过与干扰素结合触发JAK-STAT信号通路,激活数百种干扰素刺激基因(ISGs),在抗病毒、抗增殖和免疫调节中发挥核心作用。其表达产物具有典型的细胞因子受体结构特征,包括胞外免疫球蛋白样结构域和保守的Box1/Box2基序。IFNAR2存在两种主要剪接变体:长亚型(IFNAR2c)具有完整信号转导功能,而短亚型(IFNAR2b)作为诱饵受体可调节信号强度。该基因突变可导致严重的临床表型,如完全缺失会引发婴幼儿致命性病毒感染易感性,部分功能丧失突变与慢性病毒性肝炎进展相关。在系统性红斑狼疮等自身免疫疾病中常见IFNAR2过表达,导致I型干扰素信号持续激活;而在某些肿瘤中其表达下调会促进免疫逃逸。该基因属于II型细胞因子受体家族,该家族成员均具有保守的WSXWS基序并通过JAK-STAT通路转导信号。IFNAR2表达水平直接影响机体对病毒感染的敏感性——过表达可增强抗病毒防御但可能诱发自身免疫反应,而表达不足会导致病毒清除能力下降。值得注意的是,该基因与IFNAR1存在表达平衡关系,两者比例异常会改变细胞对干扰素的响应阈值。在治疗应用方面,IFNAR2是肝炎和多重硬化症药物的重要靶点,其多态性(如rs2229207)影响患者对干扰素治疗的敏感性。

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是I型膜形成为干扰素α和β受体的两条链中的一个蛋白。结合和受体活化刺激的Janus蛋白质激酶,这反过来又磷酸化几种蛋白质,包括STAT1和STAT2。多个转录变体在至少两个不同的同种型已发现此基因编码。 [由RefSeq的,2008年7月提供]

IFNAR2基因的碱基序列:[NCBI]
Loading Gene Browser...
IFNAR2基因的碱基突变:           仅显示部分snp
rs1187       rs3153       rs9710       rs14861       rs1051393       rs1131668       rs1131673       rs1131964       rs1137779       rs1137780       rs1803787       rs2073361       rs2073362       rs2229207       rs2236756       rs2236757       rs2236758      

IFNAR2基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
      尚未收录相关数据

IFNAR2基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

IFNAR2基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0016021
C9JCU0 (UniProtKB)
IEA
GO:0016021
C9JM33 (UniProtKB)
IEA
GO:0016021
F8WDE1 (UniProtKB)
IEA
GO:0004905
P48551 (UniProtKB)
IDA
GO:0004905
P48551 (UniProtKB)
IDA
GO:0005515
P48551 (UniProtKB)
IPI
GO:0005515
P48551 (UniProtKB)
IPI
GO:0005515
P48551 (UniProtKB)
IPI
GO:0005515
P48551 (UniProtKB)
IPI
GO:0005515
P48551 (UniProtKB)
IPI
GO:0005515
P48551 (UniProtKB)
IPI
GO:0005515
P48551 (UniProtKB)
IPI
GO:0005515
P48551 (UniProtKB)
IPI
GO:0005515
P48551 (UniProtKB)
IPI
GO:0005576
P48551 (UniProtKB)
TAS
GO:0005615
P48551 (UniProtKB)
IEA
GO:0005615
P48551 (UniProtKB)
IDA
GO:0005622
P48551 (UniProtKB)
IEA
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005886
P48551 (UniProtKB)
TAS
GO:0005887
P48551 (UniProtKB)
IDA
GO:0006357
P48551 (UniProtKB)
IEA
GO:0007166
P48551 (UniProtKB)
TAS
GO:0007259
P48551 (UniProtKB)
TAS
GO:0008283
P48551 (UniProtKB)
IEA
GO:0009615
P48551 (UniProtKB)
TAS
GO:0019901
P48551 (UniProtKB)
IPI
GO:0019962
P48551 (UniProtKB)
IPI
GO:0035455
P48551 (UniProtKB)
IDA
GO:0042015
P48551 (UniProtKB)
IBA
GO:0060337
P48551 (UniProtKB)
IDA
GO:0060337
P48551 (UniProtKB)
TAS
GO:0060338
P48551 (UniProtKB)
TAS

可能调控 IFNAR2基因的相关microRNA:     

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Hepatitis B 0.120814326 3 0 BeFree_CTD_human
Muscle Weakness 0.12 1 0 CTD_human
HEPATITIS B VIRUS, SUSCEPTIBILITY TO 0.12 0 1 CLINVAR
Down Syndrome 0.12 1 0 CTD_human
Malignant neoplasm of lung 0.009468128 4 0 GAD
Hepatitis C 0.008544182 7 0 BeFree_GAD_LHGDN
Liver carcinoma 0.008087174 4 0 BeFree_GAD_LHGDN
Hepatitis C, Chronic 0.007915422 6 0 BeFree_GAD
Renal Cell Carcinoma 0.005991584 3 0 BeFree_LHGDN
Multiple Sclerosis 0.005276948 3 0 BeFree_GAD

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