IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma)
- symbol:
- IKBKG
- locus group:
- protein-coding gene
- location:
- Xq28
- gene_family:
- Zinc fingers, C2HC-type
- alias symbol:
- IKK-gamma|NEMO|Fip3p|FIP-3|FIP3|ZC2HC9|IKKAP1|IKKG
- alias name:
- NF-kappa-B essential modulator|IkB…
- entrez id:
- 8517
- ensembl gene id:
- ENSG00000269335
- ucsc gene id:
- uc033fbv.2
- refseq accession:
- NM_003639
- hgnc_id:
- HGNC:5961
- approved reserved:
- 1998-09-30
IKBKG（也称为NEMO或NF-kappa-B essential modulator）是NF-κB信号通路中的关键调节因子，属于IKB激酶（IKK）复合物的组成部分。该基因编码的蛋白质主要功能是激活NF-κB转录因子，后者在免疫反应、炎症、细胞存活和增殖中起核心作用。IKBKG通过与IKKα和IKKβ形成复合物，促进IκB蛋白的磷酸化和降解，从而释放NF-κB使其进入细胞核并调控靶基因表达。IKBKG的主要作用位点包括细胞质中的IKK复合物以及与其他信号分子的相互作用界面。突变或缺失IKBKG会导致严重的免疫缺陷，如X连锁无汗性外胚层发育不良伴免疫缺陷（EDA-ID），表现为易感染、炎症异常和皮肤发育缺陷。此外，IKBKG突变还与色素失禁症（IP）相关，这是一种影响皮肤、牙齿和神经系统的遗传病。IKBKG过表达可能导致NF-κB信号过度激活，引发慢性炎症或自身免疫疾病，甚至促进某些癌症的发展。相反，IKBKG表达降低会削弱免疫反应，增加感染风险并影响细胞存活。IKBKG属于IKB激酶（IKK）家族，该家族成员共同参与调控NF-κB信号通路，通过磷酸化IκB蛋白来释放NF-κB。IKK家族的共性包括含有激酶结构域、参与炎症和免疫反应调控，并在细胞应激和感染应答中发挥核心作用。IKBKG因其在NF-κB激活中的不可替代性而成为该家族中最关键的成员之一。
This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Aug 2011]
这个基因编码κB的激酶（IKK）复合体抑制剂，激活的NF-κB的导致参与炎症，免疫，细胞存活，和其它途径的基因的活化的调节亚基。突变这个基因导致色素失禁症，少汗型外胚层发育不良，以及其他几种类型的免疫缺陷的。已发现该基因编码不同亚型的多个抄本变形。高度相似，该位点假基因位于X染色体的相邻区域。 [由RefSeq的，2011年8月提供]
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AGAATCAAGAGCTCCGAGG
59
TATCGATCACCTCCTGTTTGG
60
TAAGGAATGCCAGGCTCTG
60
CCAGCTTCCTCTTCTCCTC
59
AAGAGATGCCAGCAGATGG
60
AGCCTGGCATTCCTTAGTG
60
CGATAAGCTGAAGGAGGAG
57
CCTTGTAGATATCCGCCTG
57
ATCAAGAGCTCCGAGATGC
60
ACATGAGGAACTCCTTCTCC
59
CCTATCACCAGCTCTTCCA
59
CTTGTAGATATCCGCTCGC
58
CGATAAGCTGAAGGAGGAG
57
CCTTGTAGATATCCGCCTG
57
CGATAAGCTGAAGGAGGAG
57
CCTTGTAGATATCCGCCTG
57
AAGAGATGCCAGCAGATGG
60
AGCCTGGCATTCCTTAGTG
60
CGATAAGCTGAAGGAGGAG
57
CCTTGTAGATATCCGCCTG
57
基因本体信息
IKBKG基因（以及对应的蛋白质）的细胞分布位置：
- 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
IKBKG基因的本体（GO）信息：
GO库代码
对应的蛋白质
来源代码
GO:0005737
C9J2V2 (UniProtKB)
IDA
GO:0005737
C9JCG6 (UniProtKB)
IDA
GO:0005737
C9JN51 (UniProtKB)
IDA
GO:0000151
Q9Y6K9 (UniProtKB)
IPI
GO:0000187
Q9Y6K9 (UniProtKB)
TAS
GO:0000922
Q9Y6K9 (UniProtKB)
IDA
GO:0002223
Q9Y6K9 (UniProtKB)
TAS
GO:0004871
Q9Y6K9 (UniProtKB)
TAS
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005515
Q9Y6K9 (UniProtKB)
IPI
GO:0005622
Q9Y6K9 (UniProtKB)
IDA
GO:0005634
Q9Y6K9 (UniProtKB)
IDA
GO:0005737
Q9Y6K9 (UniProtKB)
IDA
GO:0005737
Q9Y6K9 (UniProtKB)
IDA
GO:0005737
Q9Y6K9 (UniProtKB)
IDA
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0005829
Q9Y6K9 (UniProtKB)
TAS
GO:0006351
Q9Y6K9 (UniProtKB)
IEA
GO:0006915
Q9Y6K9 (UniProtKB)
TAS
GO:0006954
Q9Y6K9 (UniProtKB)
TAS
GO:0006955
Q9Y6K9 (UniProtKB)
TAS
GO:0006974
Q9Y6K9 (UniProtKB)
IDA
GO:0007249
Q9Y6K9 (UniProtKB)
TAS
GO:0007249
Q9Y6K9 (UniProtKB)
TAS
GO:0007254
Q9Y6K9 (UniProtKB)
TAS
GO:0008385
Q9Y6K9 (UniProtKB)
TAS
GO:0008385
Q9Y6K9 (UniProtKB)
IDA
GO:0009615
Q9Y6K9 (UniProtKB)
TAS
GO:0010803
Q9Y6K9 (UniProtKB)
TAS
GO:0016032
Q9Y6K9 (UniProtKB)
IEA
GO:0019904
Q9Y6K9 (UniProtKB)
IPI
GO:0031625
Q9Y6K9 (UniProtKB)
IPI
GO:0035666
Q9Y6K9 (UniProtKB)
TAS
GO:0038095
Q9Y6K9 (UniProtKB)
TAS
GO:0042803
Q9Y6K9 (UniProtKB)
IDA
GO:0042975
Q9Y6K9 (UniProtKB)
IEA
GO:0043123
Q9Y6K9 (UniProtKB)
IDA
GO:0043123
Q9Y6K9 (UniProtKB)
TAS
GO:0045087
Q9Y6K9 (UniProtKB)
TAS
GO:0045944
Q9Y6K9 (UniProtKB)
IDA
GO:0046872
Q9Y6K9 (UniProtKB)
IEA
GO:0046982
Q9Y6K9 (UniProtKB)
IDA
GO:0050852
Q9Y6K9 (UniProtKB)
NAS
GO:0050852
Q9Y6K9 (UniProtKB)
TAS
GO:0050852
Q9Y6K9 (UniProtKB)
TAS
GO:0051092
Q9Y6K9 (UniProtKB)
IDA
GO:0051092
Q9Y6K9 (UniProtKB)
TAS
GO:0051092
Q9Y6K9 (UniProtKB)
TAS
GO:0051403
Q9Y6K9 (UniProtKB)
TAS
GO:0051650
Q9Y6K9 (UniProtKB)
IMP
GO:0070423
Q9Y6K9 (UniProtKB)
TAS
GO:0070530
Q9Y6K9 (UniProtKB)
IBA
GO:0072686
Q9Y6K9 (UniProtKB)
IDA
GO:1901215
Q9Y6K9 (UniProtKB)
TAS
GO:1990450
Q9Y6K9 (UniProtKB)
IDA
GO:0008385
Q9Y6K9 (UniProtKB)
TAS
| 名称 |
|---|
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4064 NF-kappa B signaling pathway [PATH:hsa04064] |
| 4668 TNF signaling pathway [PATH:hsa04668] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 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] |
| 4380 Osteoclast differentiation [PATH:hsa04380] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 5212 Pancreatic cancer [PATH:hsa05212] |
| 5221 Acute myeloid leukemia [PATH:hsa05221] |
| 5220 Chronic myeloid leukemia [PATH:hsa05220] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 5222 Small cell lung cancer [PATH:hsa05222] |
| 5340 Primary immunodeficiency [PATH:hsa05340] |
| 5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
| 5131 Shigellosis [PATH:hsa05131] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 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] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 名称 |
|---|
| activated TAK1 mediates p38 MAPK activation |
| Activated TLR4 signalling |
| Activation of NF-kappaB in B cells |
| Adaptive Immune System |
| C-type lectin receptors (CLRs) |
| CLEC7A (Dectin-1) signaling |
| Cytokine Signaling in Immune system |
| 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 |
| IKBKB deficiency causes SCID |
| IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) |
| IKK complex recruitment mediated by RIP1 |
| Immune System |
| Innate Immune System |
| Interleukin-1 signaling |
| IRAK1 recruits IKK complex |
| IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation |
| JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 |
| MAP kinase activation in TLR cascade |
| 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 activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 |
| NOD1/2 Signaling Pathway |
| Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
| RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways |
| RIP-mediated NFkB activation via ZBP1 |
| Signaling by Interleukins |
| Signaling by the B Cell Receptor (BCR) |
| 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 |
| ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder) | 0.48 | 1 | 2 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Bloch Sulzberger syndrome | 0.389646753 | 53 | 3 | BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET |
| Ectodermal dysplasia, hypohidrotic, with immune deficiency | 0.362985861 | 14 | 11 | BeFree_CLINVAR_CTD_human_UNIPROT |
| INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder) | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
| Immunodeficiency without anhidrotic ectodermal dysplasia | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
| Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema | 0.36 | 0 | 1 | CLINVAR_CTD_human_ORPHANET |
| Incontinentia pigmenti, familial male-lethal type | 0.333300652 | 50 | 3 | BeFree_MGD_ORPHANET_UNIPROT |
| Non-alcoholic Fatty Liver Disease | 0.12 | 1 | 0 | CTD_human |
| Lung Neoplasms | 0.12 | 1 | 0 | CTD_human |
| FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | 0.08 | 0 | 0 | MGD |
联系方式
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