IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8517 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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IKBKG |
SynonymsGene synonyms aliases
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AMCBX1, EDAID1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IMD33, IP, IP1, IP2, IPD2, NEMO, SAIDX, ZC2HC9 |
ChromosomeChromosome number
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X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xq28 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 in |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs137853321 |
A>G |
Pathogenic |
Terminator codon variant, non coding transcript variant, stop lost |
rs137853322 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs137853323 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs137853324 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs137853325 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs137853326 |
G>A,T |
Not-provided, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs137853327 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs137853328 |
T>G |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
rs137853329 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs137853330 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
rs137853331 |
A>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs137853332 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs179363866 |
C>G,T |
Pathogenic, not-provided |
Intron variant, missense variant, coding sequence variant |
rs179363867 |
G>A |
Likely-pathogenic, not-provided |
Missense variant, non coding transcript variant, coding sequence variant |
rs179363896 |
G>A |
Conflicting-interpretations-of-pathogenicity, not-provided |
Missense variant, non coding transcript variant, coding sequence variant |
rs386134238 |
GAG>- |
Likely-pathogenic |
Non coding transcript variant, inframe deletion, coding sequence variant |
rs386134240 |
A>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
rs782178147 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs782604431 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs1057517746 |
A>G,T |
Pathogenic |
Splice acceptor variant, intron variant |
rs1057517874 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1057520292 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
rs1057521138 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
rs1064793564 |
T>C |
Pathogenic |
Stop lost, non coding transcript variant, terminator codon variant |
rs1064794135 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
rs1064794340 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1085307883 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
rs1085307986 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
rs1085308018 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
rs1156900338 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, intron variant |
rs1237384577 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, intron variant |
rs1557236015 |
G>A |
Pathogenic |
Splice acceptor variant |
rs1557236445 |
->CAGG |
Pathogenic |
Intron variant, splice acceptor variant, coding sequence variant |
rs1557236517 |
->CAGGCCGCCTC |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
rs1557236565 |
C>G |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
rs1557236571 |
T>G |
Pathogenic |
Intron variant, splice donor variant |
rs1557236929 |
G>C |
Likely-pathogenic |
Terminator codon variant, stop lost, non coding transcript variant |
rs1569556522 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1569556603 |
G>A |
Pathogenic |
Intron variant |
rs1569556615 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000151 |
Component |
Ubiquitin ligase complex |
IPI |
17314283 |
GO:0000187 |
Process |
Activation of MAPK activity |
TAS |
|
GO:0000922 |
Component |
Spindle pole |
IDA |
24561039 |
GO:0002223 |
Process |
Stimulatory C-type lectin receptor signaling pathway |
TAS |
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GO:0002479 |
Process |
Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent |
TAS |
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GO:0002756 |
Process |
MyD88-independent toll-like receptor signaling pathway |
TAS |
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GO:0005515 |
Function |
Protein binding |
IPI |
9751060, 11113112, 11418127, 11551959, 12486103, 14653779, 14743216, 15474016, 15601829, 15749833, 16126728, 16129692, 16319058, 16874300, 16938294, 17363905, 17363973, 17568778, 17948050, 18266467, 18287044, 18462684, 18583959, 19365808, 19373254, 19666608, 19706536, 19875381, 2001 |
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
IDA |
14651848 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
11113112, 14651848 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006915 |
Process |
Apoptotic process |
TAS |
9927690 |
GO:0006954 |
Process |
Inflammatory response |
TAS |
18626576 |
GO:0006955 |
Process |
Immune response |
TAS |
9751060 |
GO:0006974 |
Process |
Cellular response to DNA damage stimulus |
IDA |
14651848 |
GO:0006974 |
Process |
Cellular response to DNA damage stimulus |
IMP |
25861989 |
GO:0007249 |
Process |
I-kappaB kinase/NF-kappaB signaling |
TAS |
18626576 |
GO:0007254 |
Process |
JNK cascade |
TAS |
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GO:0008385 |
Component |
IkappaB kinase complex |
IBA |
21873635 |
GO:0008385 |
Component |
IkappaB kinase complex |
IDA |
23776175 |
GO:0008385 |
Component |
IkappaB kinase complex |
TAS |
18626576 |
GO:0009615 |
Process |
Response to virus |
TAS |
18626576 |
GO:0010803 |
Process |
Regulation of tumor necrosis factor-mediated signaling pathway |
TAS |
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GO:0016032 |
Process |
Viral process |
IEA |
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GO:0016239 |
Process |
Positive regulation of macroautophagy |
ISS |
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GO:0016579 |
Process |
Protein deubiquitination |
TAS |
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GO:0019904 |
Function |
Protein domain specific binding |
IPI |
15341735 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
23453807 |
GO:0032991 |
Component |
Protein-containing complex |
IDA |
11113112 |
GO:0035666 |
Process |
TRIF-dependent toll-like receptor signaling pathway |
TAS |
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GO:0038095 |
Process |
Fc-epsilon receptor signaling pathway |
TAS |
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GO:0042802 |
Function |
Identical protein binding |
IPI |
18462684, 21988832, 30561431 |
GO:0042803 |
Function |
Protein homodimerization activity |
IDA |
23091055 |
GO:0042975 |
Function |
Peroxisome proliferator activated receptor binding |
IEA |
|
GO:0043122 |
Process |
Regulation of I-kappaB kinase/NF-kappaB signaling |
IBA |
21873635 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IBA |
21873635 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IDA |
17702576 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
TAS |
|
GO:0043276 |
Process |
Anoikis |
ISS |
|
GO:0044877 |
Function |
Protein-containing complex binding |
IEA |
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GO:0045087 |
Process |
Innate immune response |
TAS |
18626576 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IDA |
23091055 |
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0046982 |
Function |
Protein heterodimerization activity |
IDA |
23091055 |
GO:0050852 |
Process |
T cell receptor signaling pathway |
NAS |
15125833 |
GO:0050852 |
Process |
T cell receptor signaling pathway |
TAS |
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GO:0051092 |
Process |
Positive regulation of NF-kappaB transcription factor activity |
IDA |
15620648 |
GO:0051092 |
Process |
Positive regulation of NF-kappaB transcription factor activity |
TAS |
18626576 |
GO:0051403 |
Process |
Stress-activated MAPK cascade |
TAS |
|
GO:0051650 |
Process |
Establishment of vesicle localization |
IMP |
24561039 |
GO:0065003 |
Process |
Protein-containing complex assembly |
IDA |
11113112 |
GO:0070423 |
Process |
Nucleotide-binding oligomerization domain containing signaling pathway |
TAS |
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GO:0070498 |
Process |
Interleukin-1-mediated signaling pathway |
TAS |
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GO:0070530 |
Function |
K63-linked polyubiquitin modification-dependent protein binding |
IBA |
21873635 |
GO:0072686 |
Component |
Mitotic spindle |
IDA |
24561039 |
GO:1901215 |
Process |
Negative regulation of neuron death |
TAS |
18221368 |
GO:1990450 |
Function |
Linear polyubiquitin binding |
IDA |
23453807 |
GO:1990459 |
Function |
Transferrin receptor binding |
IPI |
23016877 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q9Y6K9 |
Protein name |
NF-kappa-B essential modulator (NEMO) (FIP-3) (IkB kinase-associated protein 1) (IKKAP1) (Inhibitor of nuclear factor kappa-B kinase subunit gamma) (I-kappa-B kinase subunit gamma) (IKK-gamma) (IKKG) (IkB kinase subunit gamma) (NF-kappa-B essential modifi |
Protein function |
Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor (PubMed:14695475, PubMed:20724660, PubM |
PDB |
2JVX
,
2JVY
,
3BRT
,
3BRV
,
3CL3
,
3FX0
,
4BWN
,
5AAY
,
5LDE
,
6MI3
,
6MI4
,
6XX0
,
6YEK
,
7T2U
,
7TV4
,
8U7C
,
9AZJ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF11577 |
NEMO |
44 → 111 |
NF-kappa-B essential modulator NEMO |
Family |
PF16516 |
CC2-LZ |
247 → 344 |
Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator |
Coiled-coil |
PF18414 |
zf_C2H2_10 |
393 → 418 |
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Domain |
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Sequence |
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Sequence length |
419 |
Interactions |
View interactions |
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