NFKBIA基因详情-基因数据库-基因云馆

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NFKBIA (NFKB inhibitor alpha)

symbol:: NFKBIA
locus group:: protein-coding gene
location:: 14q13.2
gene_family:: Ankyrin repeat domain containing
alias symbol:: IKBA|MAD-3|IkappaBalpha
alias name:: NF-kappa-B inhibitor alpha
entrez id:: 4792
ensembl gene id:: ENSG00000100906
ucsc gene id:: uc001wtf.5
refseq accession:: NM_020529
hgnc_id:: HGNC:7797
approved reserved:: 1992-02-13

14q13.2

NFKBIA基因编码的蛋白质是IκBα，属于IκB（核因子κB抑制蛋白）家族。这个基因家族的主要功能是调控NF-κB（核因子κB）信号通路，该通路在免疫反应、炎症、细胞增殖和凋亡等过程中起关键作用。IκBα通过与NF-κB结合并抑制其活性，防止NF-κB进入细胞核激活靶基因。当细胞受到外界刺激（如炎症因子或病原体）时，IκBα会被磷酸化和降解，释放NF-κB使其进入细胞核调控基因表达。NFKBIA的突变可能导致IκBα功能异常，使NF-κB信号通路持续激活，与多种炎症性疾病和癌症（如霍奇金淋巴瘤、乳腺癌等）相关。例如，某些NFKBIA突变会导致IκBα无法有效抑制NF-κB，从而引发慢性炎症或肿瘤发生。如果NFKBIA过表达，NF-κB活性会被过度抑制，可能影响免疫反应和细胞存活；而降低表达则可能导致NF-κB信号过度激活，促进炎症或肿瘤发展。IκB家族成员（如IκBβ、IκBε）也具有类似功能，但它们的表达模式和调控机制略有不同。了解NFKBIA的功能和调控机制有助于开发针对炎症和癌症的治疗策略。

This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]

该基??因编码的NF-卡帕-B抑制剂家族的成员，其包含多个ankrin重复域。所编码的蛋白质与REL二聚体相互作用以抑制其参与炎症反应的NF-κ-B / REL络合物。通过核定位信号和CRM1介导核出口细胞质和细胞核之间所编码的蛋白质移动。在这个基因的突变是在与T细胞免疫的常染色体显性疾病外胚层发育不良无汗性被发现。 [由RefSeq的，2011年8月提供]

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

NFKBIA基因的碱基序列：[NCBI]

Loading Gene Browser...

NFKBIA基因的碱基突变：仅显示部分snp

rs696 rs8904 rs1022714 rs1050851 rs1131420 rs1957106 rs2233406 rs2233407 rs2233408 rs2233409 rs2233411 rs2233412 rs2233413 rs2233414 rs2233415 rs2233416 rs2233417

NFKBIA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

TACGAGCAGATGGTCAAGG

TCTTCATGGATGATGGCCA

CTATTCTCCCTACCAGCTCAC

AGTCATCATAGGGCAGCTC

TGACCATGGAAGTGATCCG

CCAAGTGGAGTGGAGTCTG

CAACTACAATGGCCACACG

TGAGCATTGACATCAGCAC

CCAACTACAATGGAGCCCT

TCAACAGGAGTGACACCAG

GCCTCTATCCATGGCTACC

CCATTACAGGGCTCCTGAG

AGTACGAGCAGATGCTCAC

TTTCTTCATGGATGATGGCC

ACCAACTACAATGGAGCCC

TCAACAGGAGTGACACCAG

GCCTCTATCCATGGCTACC

CCATTACAGGGCTCCTGAG

CAACTACAATGGCCACACG

TGAGCATTGACATCAGCAC

转录因子

影响基因

影响类型

参考文献链接（PubMed）

NFKB1

NFKBIA

Activation

12885753

NFKB1

NFKBIA

Repression

11744993

NFKB1

NFKBIA

Unknown

10454561; 15499023; 17876798

NFKBIA

CCL5

Repression

15228586

NFKBIA

CD40

Repression

9733827

NFKBIA

CD58

Repression

9733827

NFKBIA

CXCL8

Unknown

12296854

NFKBIA

EBI3

Repression

9733827

NFKBIA

FAS

Repression

9733827

NFKBIA

ICAM1

Repression

12490396; 9733827; 9990039

NFKBIA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

NFKBIA基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0005737

G3V3I4 (UniProtKB)

IDA

GO:0005886

G3V3I4 (UniProtKB)

IDA

GO:0000060

P25963 (UniProtKB)

IEA

GO:0002223

P25963 (UniProtKB)

TAS

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005515

P25963 (UniProtKB)

IPI

GO:0005634

P25963 (UniProtKB)

IDA

GO:0005634

P25963 (UniProtKB)

IDA

GO:0005737

P25963 (UniProtKB)

IDA

GO:0005737

P25963 (UniProtKB)

IDA

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005829

P25963 (UniProtKB)

TAS

GO:0005886

P25963 (UniProtKB)

IDA

GO:0006915

P25963 (UniProtKB)

TAS

GO:0007253

P25963 (UniProtKB)

IMP

GO:0008134

P25963 (UniProtKB)

TAS

GO:0008139

P25963 (UniProtKB)

IPI

GO:0010745

P25963 (UniProtKB)

IMP

GO:0010875

P25963 (UniProtKB)

IMP

GO:0010888

P25963 (UniProtKB)

IMP

GO:0016032

P25963 (UniProtKB)

IEA

GO:0019899

P25963 (UniProtKB)

IPI

GO:0031072

P25963 (UniProtKB)

IEA

GO:0031625

P25963 (UniProtKB)

IPI

GO:0031663

P25963 (UniProtKB)

IEA

GO:0032088

P25963 (UniProtKB)

IDA

GO:0032270

P25963 (UniProtKB)

IMP

GO:0032403

P25963 (UniProtKB)

IEA

GO:0032495

P25963 (UniProtKB)

IEA

GO:0033256

P25963 (UniProtKB)

TAS

GO:0034142

P25963 (UniProtKB)

IEA

GO:0035994

P25963 (UniProtKB)

IEA

GO:0038095

P25963 (UniProtKB)

TAS

GO:0042127

P25963 (UniProtKB)

IEA

GO:0042345

P25963 (UniProtKB)

NAS

GO:0042802

P25963 (UniProtKB)

IPI

GO:0042994

P25963 (UniProtKB)

IDA

GO:0043066

P25963 (UniProtKB)

TAS

GO:0043330

P25963 (UniProtKB)

IEA

GO:0043392

P25963 (UniProtKB)

NAS

GO:0045638

P25963 (UniProtKB)

IEA

GO:0045746

P25963 (UniProtKB)

IEA

GO:0045944

P25963 (UniProtKB)

IMP

GO:0045944

P25963 (UniProtKB)

IDA

GO:0050852

P25963 (UniProtKB)

TAS

GO:0051059

P25963 (UniProtKB)

IDA

GO:0051059

P25963 (UniProtKB)

IPI

GO:0051092

P25963 (UniProtKB)

TAS

GO:0070417

P25963 (UniProtKB)

NAS

GO:0070427

P25963 (UniProtKB)

IEA

GO:0070431

P25963 (UniProtKB)

IEA

GO:0071345

P25963 (UniProtKB)

IEA

GO:0071407

P25963 (UniProtKB)

IEA

可能调控 NFKBIA基因的相关microRNA：

hsa-miR-24 hsa-miR-335 hsa-let-7a hsa-let-7b hsa-let-7b* hsa-let-7c hsa-let-7c* hsa-let-7d hsa-let-7d* hsa-let-7e

Reactome

MINT

BioGrid

IntAct

mentha

String

序号	作用方式	资源库来源/分值	基因名称	基因名称

KEGG
Reactomepathway

名称
4064 NF-kappa B signaling pathway [PATH:hsa04064]
4668 TNF signaling pathway [PATH:hsa04668]
4024 cAMP signaling pathway [PATH:hsa04024]
4210 Apoptosis [PATH:hsa04210]
4620 Toll-like receptor signaling pathway [PATH:hsa04620]
4621 NOD-like receptor signaling pathway [PATH:hsa04621]
4622 RIG-I-like receptor signaling pathway [PATH:hsa04622]
4623 Cytosolic DNA-sensing pathway [PATH:hsa04623]
4660 T cell receptor signaling pathway [PATH:hsa04660]
4662 B cell receptor signaling pathway [PATH:hsa04662]
4062 Chemokine signaling pathway [PATH:hsa04062]
4920 Adipocytokine signaling pathway [PATH:hsa04920]
4722 Neurotrophin signaling pathway [PATH:hsa04722]
4380 Osteoclast differentiation [PATH:hsa04380]
5200 Pathways in cancer [PATH:hsa05200]
5203 Viral carcinogenesis [PATH:hsa05203]
5220 Chronic myeloid leukemia [PATH:hsa05220]
5215 Prostate cancer [PATH:hsa05215]
5222 Small cell lung cancer [PATH:hsa05222]
5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120]
5131 Shigellosis [PATH:hsa05131]
5134 Legionellosis [PATH:hsa05134]
5166 HTLV-I infection [PATH:hsa05166]
5162 Measles [PATH:hsa05162]
5164 Influenza A [PATH:hsa05164]
5161 Hepatitis B [PATH:hsa05161]
5160 Hepatitis C [PATH:hsa05160]
5168 Herpes simplex infection [PATH:hsa05168]
5169 Epstein-Barr virus infection [PATH:hsa05169]
5145 Toxoplasmosis [PATH:hsa05145]
5140 Leishmaniasis [PATH:hsa05140]
5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142]

名称
Activated TLR4 signalling
Activation of NF-kappaB in B cells
Adaptive Immune System
C-type lectin receptors (CLRs)
CLEC7A (Dectin-1) signaling
Cytosolic sensors of pathogen-associated DNA
Disease
Diseases associated with the TLR signaling cascade
Diseases of Immune System
Downstream signaling events of B Cell Receptor (BCR)
Downstream TCR signaling
Fc epsilon receptor (FCERI) signaling
FCERI mediated NF-kB activation
IkBA variant leads to EDA-ID
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
Immune System
Innate Immune System
MyD88 cascade initiated on plasma membrane
MyD88 dependent cascade initiated on endosome
MyD88-independent TLR3/TLR4 cascade
MyD88:Mal cascade initiated on plasma membrane
NF-kB is activated and signals survival
p75 NTR receptor-mediated signalling
p75NTR signals via NF-kB
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
RIP-mediated NFkB activation via ZBP1
Signaling by the B Cell Receptor (BCR)
Signalling by NGF
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
TCR signaling
Toll Like Receptor 10 (TLR10) Cascade
Toll Like Receptor 2 (TLR2) Cascade
Toll Like Receptor 3 (TLR3) Cascade
Toll Like Receptor 4 (TLR4) Cascade
Toll Like Receptor 5 (TLR5) Cascade
Toll Like Receptor 7/8 (TLR7/8) Cascade
Toll Like Receptor 9 (TLR9) Cascade
Toll Like Receptor TLR1:TLR2 Cascade
Toll Like Receptor TLR6:TLR2 Cascade
Toll-Like Receptors Cascades
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
TRAF6 Mediated Induction of proinflammatory cytokines
TRAF6 mediated NF-kB activation
TRIF-mediated TLR3/TLR4 signaling
ZBP1(DAI) mediated induction of type I IFNs

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant	0.36	1	3	CLINVAR_CTD_human_UNIPROT
Hodgkin Disease	0.126091273	5	0	BeFree_CTD_human_GAD
Psoriasis	0.125276948	4	1	BeFree_CTD_human_GAD
Liver carcinoma	0.124267125	8	0	BeFree_CTD_human_GAD
Pancreatic Neoplasm	0.120271442	2	0	BeFree_CTD_human
gliosarcoma	0.12	0	0	ORPHANET
Mammary Neoplasms	0.12	1	0	CTD_human
Giant Cell Glioblastoma	0.12	0	0	ORPHANET
Myocardial Ischemia	0.12	1	0	CTD_human
Brain Ischemia	0.12	1	0	CTD_human

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更新于2天前

NFKBIA (NFKB inhibitor alpha)

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

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

基因相关服务

基因相关服务

联系方式

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