IL12A (interleukin 12A)

基因基本信息

基因基本信息

symbol:
IL12A
locus group:
protein-coding gene
location:
3q25.33
gene_family:
Interleukins
alias symbol:
CLMF|IL-12A|p35|NFSK
alias name:
natural killer cell stimulatory fa…
entrez id:
3592
ensembl gene id:
ENSG00000168811
ucsc gene id:
uc003fcx.4
refseq accession:
NM_000882
hgnc_id:
HGNC:5969
approved reserved:
1991-08-08

基因染色体位置

基因染色体位置

3q25.33
基因染色体位置图

基因简述

基因简述

IL12A（白细胞介素12A）是编码白细胞介素12（IL-12）p35亚基的基因，属于IL-12细胞因子家族。IL-12是由IL12A（p35）和IL12B（p40）两个亚基组成的异源二聚体，主要由树突细胞、巨噬细胞和B细胞分泌。IL-12的主要生物学功能是促进Th1型免疫反应，通过激活自然杀伤（NK）细胞和T细胞，刺激干扰素γ（IFN-γ）的产生，从而增强细胞免疫应答。IL-12在抗感染免疫（尤其是细胞内病原体如结核分枝杆菌）和抗肿瘤免疫中发挥关键作用。IL12A基因突变可能导致IL-12功能缺陷，与严重免疫缺陷病如孟德尔易感分枝杆菌病（MSMD）相关，患者易发生分枝杆菌和沙门氏菌感染。IL-12过表达可能引发过度炎症反应，与自身免疫疾病如炎症性肠病（IBD）、多发性硬化症（MS）和银屑病有关；而IL-12表达降低则可能导致免疫应答减弱，增加感染风险和肿瘤发生几率。IL-12家族还包括IL-23、IL-27和IL-35等成员，它们共享部分亚基（如IL12B/p40也参与IL-23形成）并通过相似的受体信号通路（如JAK-STAT通路）调控免疫反应。该家族细胞因子的共性是调节T细胞分化和免疫功能，在感染、肿瘤和自身免疫疾病中起核心作用。针对IL-12/IL-23通路的生物制剂（如乌司奴单抗）已用于治疗银屑病和克罗恩病。

This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]

这个基因编码作用于T和自然杀伤细胞的细胞因子的一个亚单位，并且具有生物活性的广泛阵列。细胞因子是由该基因编码的35-kD的亚基组成的二硫键连接的异二聚体，和一个40-kD的亚基是细胞因子受体家族的一个成员。这种细胞因子需要干扰素（IFN）-γ-的T细胞非依赖性的诱导，是Th1和Th2细胞的分化很重要的。淋巴细胞对这种细胞因子的响应由转录蛋白STAT4的活化介导的。一氧化氮合成酶2A（NOS2A / NOS2）被发现是必需的该细胞因子在先天免疫的信令过程。 [由RefSeq的，2008年7月提供]

OMIM数据库中对IL12A基因的介绍     Wikipedia数据库中对IL12A基因的介绍

基因序列

基因序列

IL12A基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

IL12A基因的碱基突变：           仅显示部分snp
rs475825       rs568408       rs582054       rs582537       rs583911       rs640039       rs647801       rs1042154       rs1042155       rs2227314       rs2230052       rs2242382       rs2243112       rs2243113       rs2243114       rs2243115       rs2243116      

基因表达

基因表达

IL12A基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CCCTTGCACTTCTGAAGAG
58
TAGGCAACTCTCATTCTTGG
57
TTAACCAAGAATGGGAGTTGC
59
CACCTGGTACATCTTCAAGTC
59
CTCAGTTTGGCCAGAAACC
59
TTTGTCTGGCCTTCTGGAG
60
CATGCTCCAGAAGAATGAGAG
59
AAGAGGTCTTTCTGGAGGC
59
GACCTCTTTCATAACTAATGGGAG
59
CATAAATACTACTAAGGCACAGGG
59
TGATGGATCCTAAGAGGCAG
58
TGTTGAAATTCAGGGCCTG
58
AAAGCAAGAGACCAGAGTCC
60
TTTCTGGCCAAACTGAGGT
60
AAGCAAGAGACCAGAGTCC
59
GTTTCTGGCCAAACTGAGG
59
AGGCCTGTTTACCATTGGA
59
CAACTCCCATTAGTTATGAAAGAGG
60
TAACCAAGAATGGGAGTTGC
58
CACCTGGTACATCTTCAAGTC
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
IRF1
IL12A
Unknown
16622221
IRF8
IL12A
Unknown
16622221
JUN
IL12A
Unknown
22904313
NFKB1
IL12A
Activation
18690006
RELA
IL12A
Activation
18690006

基因本体信息

IL12A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

IL12A基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005143
E7ENE1 (UniProtKB)
IEA
GO:0005515
E7ENE1 (UniProtKB)
IPI
GO:0006955
E7ENE1 (UniProtKB)
IEA
GO:0008083
E7ENE1 (UniProtKB)
IEA
GO:0032946
E7ENE1 (UniProtKB)
IMP
GO:0042163
E7ENE1 (UniProtKB)
IPI
GO:0042163
E7ENE1 (UniProtKB)
IPI
GO:0043514
E7ENE1 (UniProtKB)
IDA
GO:0046982
E7ENE1 (UniProtKB)
IPI
GO:0046982
E7ENE1 (UniProtKB)
IPI
GO:0005143
E9PGR3 (UniProtKB)
IEA
GO:0005515
E9PGR3 (UniProtKB)
IPI
GO:0006955
E9PGR3 (UniProtKB)
IEA
GO:0008083
E9PGR3 (UniProtKB)
IEA
GO:0032946
E9PGR3 (UniProtKB)
IMP
GO:0042163
E9PGR3 (UniProtKB)
IPI
GO:0042163
E9PGR3 (UniProtKB)
IPI
GO:0043514
E9PGR3 (UniProtKB)
IDA
GO:0046982
E9PGR3 (UniProtKB)
IPI
GO:0046982
E9PGR3 (UniProtKB)
IPI
GO:0001916
P29459 (UniProtKB)
IDA
GO:0001916
P29459 (UniProtKB)
IDA
GO:0002860
P29459 (UniProtKB)
IDA
GO:0005143
P29459 (UniProtKB)
IBA
GO:0005143
P29459 (UniProtKB)
NAS
GO:0005515
P29459 (UniProtKB)
IPI
GO:0005515
P29459 (UniProtKB)
IPI
GO:0005515
P29459 (UniProtKB)
IPI
GO:0005576
P29459 (UniProtKB)
TAS
GO:0005576
P29459 (UniProtKB)
TAS
GO:0005576
P29459 (UniProtKB)
TAS
GO:0005576
P29459 (UniProtKB)
TAS
GO:0005615
P29459 (UniProtKB)
IDA
GO:0005737
P29459 (UniProtKB)
IEA
GO:0006955
P29459 (UniProtKB)
TAS
GO:0007050
P29459 (UniProtKB)
IDA
GO:0009615
P29459 (UniProtKB)
IEP
GO:0010224
P29459 (UniProtKB)
IDA
GO:0016477
P29459 (UniProtKB)
IDA
GO:0032496
P29459 (UniProtKB)
IDA
GO:0032496
P29459 (UniProtKB)
IDA
GO:0032700
P29459 (UniProtKB)
IDA
GO:0032729
P29459 (UniProtKB)
IDA
GO:0032729
P29459 (UniProtKB)
IDA
GO:0032729
P29459 (UniProtKB)
IDA
GO:0032816
P29459 (UniProtKB)
IDA
GO:0032946
P29459 (UniProtKB)
IMP
GO:0034393
P29459 (UniProtKB)
IDA
GO:0042102
P29459 (UniProtKB)
IBA
GO:0042163
P29459 (UniProtKB)
IPI
GO:0042163
P29459 (UniProtKB)
IPI
GO:0042520
P29459 (UniProtKB)
IDA
GO:0042832
P29459 (UniProtKB)
IEA
GO:0043514
P29459 (UniProtKB)
IDA
GO:0043514
P29459 (UniProtKB)
IDA
GO:0043514
P29459 (UniProtKB)
NAS
GO:0043514
P29459 (UniProtKB)
NAS
GO:0043514
P29459 (UniProtKB)
IDA
GO:0045513
P29459 (UniProtKB)
IPI
GO:0045582
P29459 (UniProtKB)
IEA
GO:0045785
P29459 (UniProtKB)
IDA
GO:0045954
P29459 (UniProtKB)
IDA
GO:0046982
P29459 (UniProtKB)
IPI
GO:0046982
P29459 (UniProtKB)
IPI
GO:0046982
P29459 (UniProtKB)
IPI
GO:0048662
P29459 (UniProtKB)
IDA
GO:0050671
P29459 (UniProtKB)
IDA
GO:0050671
P29459 (UniProtKB)
IDA
GO:0050830
P29459 (UniProtKB)
IEP
GO:0051135
P29459 (UniProtKB)
IDA
GO:0071222
P29459 (UniProtKB)
IEA
GO:0097191
P29459 (UniProtKB)
IDA
GO:0098586
P29459 (UniProtKB)
IMP
GO:2000510
P29459 (UniProtKB)
IMP
GO:0005125
P29459 (UniProtKB)
TAS
GO:0005125
P29459 (UniProtKB)
IDA
GO:0008083
P29459 (UniProtKB)
NAS
GO:0008083
P29459 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 IL12A基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Multiple Sclerosis 0.132649486 8 1 BeFree_CTD_human_GAD
Biliary cirrhosis 0.127101096 3 2 CTD_human_GAD
Liver neoplasms 0.124734064 3 0 CTD_human_GAD
Primary biliary cirrhosis 0.122909916 2 1 BeFree_GAD_ORPHANET
Sjogren's Syndrome 0.12272435 2 0 CTD_human_LHGDN
Reperfusion Injury 0.12 1 0 CTD_human
Neoplasms, Experimental 0.12 1 0 CTD_human
Hypothermia, natural 0.12 1 0 CTD_human
Behcet Syndrome 0.12 0 0 ORPHANET
Glioma 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

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