IL12A基因详情-基因数据库-基因云馆

IL12A (interleukin 12A)

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 ...
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

3q25.33

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。

中文English

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

IL12A基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MCPARSLLLV ATLVLLDHLS LARNLPVATP DPGMFPCLHH
41SQNLLRAVSN MLQKARQTLE FYPCTSEEID HEDITKDKTS
81
TVEACLPLE LTKNESCLNS RETSFITNGS CLASRKTSFM
121MALCLSSIYE DLKMYQVEFK TMNAKLLMDP KRQIFLDQNM
161L
AVIDELMQ ALNFNSETVP QKSSLEEPDF YKTKIKLCIL
201LHAFRIRAVT IDRVMSYLNA S

结构预测来自 AlphaFold DB（UniProt: P29459），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

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

IL12A基因在不同组织中的表达： [UniProt]

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

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

IL12A基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

可能调控 IL12A基因的相关microRNA：

hsa-miR-26b hsa-miR-21*

String

BioGrid

IntAct

mentha

加载中…

关联基因	作用方式	资源库来源/分值

KEGG

名称
4630 Jak-STAT signaling pathway [PATH:hsa04630]
4060 Cytokine-cytokine receptor interaction [PATH:hsa04060]
4620 Toll-like receptor signaling pathway [PATH:hsa04620]
4622 RIG-I-like receptor signaling pathway [PATH:hsa04622]
5321 Inflammatiory bowel disease (IBD) [PATH:hsa05321]
5330 Allograft rejection [PATH:hsa05330]
4940 Type I diabetes mellitus [PATH:hsa04940]
5133 Pertussis [PATH:hsa05133]
5134 Legionellosis [PATH:hsa05134]
5152 Tuberculosis [PATH:hsa05152]
5162 Measles [PATH:hsa05162]
5164 Influenza A [PATH:hsa05164]
5168 Herpes simplex infection [PATH:hsa05168]
5146 Amoebiasis [PATH:hsa05146]
5144 Malaria [PATH:hsa05144]
5145 Toxoplasmosis [PATH:hsa05145]
5140 Leishmaniasis [PATH:hsa05140]
5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142]
5143 African trypanosomiasis [PATH:hsa05143]

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

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IL12A (interleukin 12A)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

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