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Gene id 8517
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol IKBKG   Gene   UCSC   Ensembl
Aliases AMCBX1, EDAID1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IMD33, IP, IP1, IP2, IPD2, NEMO, ZC2HC9
Gene name inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
Alternate names NF-kappa-B essential modulator, I-kappa-B kinase subunit gamma, NF-kappa-B essential modifier, ikB kinase subunit gamma, ikB kinase-associated protein 1, incontinentia pigmenti, inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma, inhibit,
Gene location Xq28 (154541237: 154565045)     Exons: 5     NC_000023.11
Gene summary(Entrez) 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
OMIM 300248

SNPs
rs2032278

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.77572081A>G
NC_000018.10   g.77572081A>T
NC_000018.9   g.75284037A>G
NC_000018.9   g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172

Protein Summary
Protein general information Q9Y6K9  

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

Length: 419  Mass: 48198

Tissue specificity: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Sequence MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRER
CEELLHFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKASVKAQVTSLL
GELQESQSRLEAATKECQALEGRARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKR
KLAQLQVAYHQLFQEYDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPV
LKAQADIYKADFQAERQAREKLAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYL
SSPLALPSQRRSPPEEPPDFCCPKCQYQAPDMDTLQIHVMECIE
Structural information
Interpro:  IPR032419  IPR021063  IPR034735  
Prosite:   PS51801

PDB:  		 2JVX 2JVY 3BRT 3BRV 3CL3 3FX0 4BWN 5AAY 5LDE 6MI3 6MI4
PDBsum:   2JVX 2JVY 3BRT 3BRV 3CL3 3FX0 4BWN 5AAY 5LDE 6MI3 6MI4

DIP:  
27528
MINT:  
STRING:   ENSP00000483825
Other Databases GeneCards:  IKBKG  Malacards:  IKBKG

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:1990459 transferrin receptor bind
ing
 IPI molecular function
GO:1990450 linear polyubiquitin bind
ing
 IDA molecular function
GO:0031625 ubiquitin protein ligase
binding
 IPI molecular function
GO:1901215 negative regulation of ne
uron death
 TAS biological process
GO:0000151 ubiquitin ligase complex
 IPI cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IBA cellular component
GO:0005737 cytoplasm
 IBA cellular component
GO:0070530 K63-linked polyubiquitin
modification-dependent pr
otein binding
 IBA molecular function
GO:0008385 IkappaB kinase complex
 IBA cellular component
GO:0043122 regulation of I-kappaB ki
nase/NF-kappaB signaling
 IBA biological process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IBA biological process
GO:0042803 protein homodimerization
activity
 IDA molecular function
GO:0046982 protein heterodimerizatio
n activity
 IDA molecular function
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 IDA biological process
GO:0006974 cellular response to DNA
damage stimulus
 IDA biological process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 TAS biological process
GO:0045087 innate immune response
 TAS biological process
GO:0009615 response to virus
 TAS biological process
GO:0008385 IkappaB kinase complex
 TAS cellular component
GO:0019904 protein domain specific b
inding
 IPI molecular function
GO:0007249 I-kappaB kinase/NF-kappaB
signaling
 TAS biological process
GO:0006954 inflammatory response
 TAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0006974 cellular response to DNA
damage stimulus
 IMP biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0070530 K63-linked polyubiquitin
modification-dependent pr
otein binding
 IEA molecular function
GO:0046872 metal ion binding
 IEA molecular function
GO:0006974 cellular response to DNA
damage stimulus
 IEA biological process
GO:0005634 nucleus
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0016032 viral process
 IEA biological process
GO:0006915 apoptotic process
 TAS biological process
GO:0006955 immune response
 TAS biological process
GO:0007249 I-kappaB kinase/NF-kappaB
signaling
 TAS biological process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IDA biological process
GO:0008385 IkappaB kinase complex
 IDA cellular component
GO:0007249 I-kappaB kinase/NF-kappaB
signaling
 TAS biological process
GO:0010803 regulation of tumor necro
sis factor-mediated signa
ling pathway
 TAS biological process
GO:0016579 protein deubiquitination
 TAS biological process
GO:0035666 TRIF-dependent toll-like
receptor signaling pathwa
y
 TAS biological process
GO:0050852 T cell receptor signaling
pathway
 TAS biological process
GO:0070498 interleukin-1-mediated si
gnaling pathway
 TAS biological process
GO:0000187 activation of MAPK activi
ty
 TAS biological process
GO:0002223 stimulatory C-type lectin
receptor signaling pathw
ay
 TAS biological process
GO:0002479 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass I, TAP-dependent
 TAS biological process
GO:0002756 MyD88-independent toll-li
ke receptor signaling pat
hway
 TAS biological process
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0007254 JNK cascade
 TAS biological process
GO:0038095 Fc-epsilon receptor signa
ling pathway
 TAS biological process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 TAS biological process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 TAS biological process
GO:0051403 stress-activated MAPK cas
cade
 TAS biological process
GO:0070423 nucleotide-binding oligom
erization domain containi
ng signaling pathway
 TAS biological process
GO:0005622 intracellular
 IDA cellular component
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0042975 peroxisome proliferator a
ctivated receptor binding
 IEA molecular function
GO:0008385 IkappaB kinase complex
 IEA cellular component
GO:0005829 cytosol
 IEA cellular component
GO:0044877 protein-containing comple
x binding
 IEA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0016239 positive regulation of ma
croautophagy
 ISS biological process
GO:0043276 anoikis
 ISS biological process
GO:0005737 cytoplasm
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005829 cytosol
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0000922 spindle pole
 IDA cellular component
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 IDA biological process
GO:0032991 protein-containing comple
x
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0072686 mitotic spindle
 IDA cellular component
GO:0065003 protein-containing comple
x assembly
 IDA biological process
GO:0005515 protein binding
 IPI molecular function
GO:0051650 establishment of vesicle
localization
 IMP biological process
GO:0050852 T cell receptor signaling
pathway
 NAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa05200Pathways in cancer
hsa05168Herpes simplex virus 1 infection
hsa04151PI3K-Akt signaling pathway
hsa05165Human papillomavirus infection
hsa04010MAPK signaling pathway
hsa05131Shigellosis
hsa04014Ras signaling pathway
hsa05132Salmonella infection
hsa05166Human T-cell leukemia virus 1 infection
hsa05163Human cytomegalovirus infection
hsa04062Chemokine signaling pathway
hsa05130Pathogenic Escherichia coli infection
hsa05170Human immunodeficiency virus 1 infection
hsa05203Viral carcinogenesis
hsa05169Epstein-Barr virus infection
hsa05167Kaposi sarcoma-associated herpesvirus infection
hsa04621NOD-like receptor signaling pathway
hsa05164Influenza A
hsa05161Hepatitis B
hsa04380Osteoclast differentiation
hsa05160Hepatitis C
hsa05418Fluid shear stress and atherosclerosis
hsa05135Yersinia infection
hsa04210Apoptosis
hsa05162Measles
hsa04668TNF signaling pathway
hsa04064NF-kappa B signaling pathway
hsa04625C-type lectin receptor signaling pathway
hsa04660T cell receptor signaling pathway
hsa04659Th17 cell differentiation
hsa04620Toll-like receptor signaling pathway
hsa05145Toxoplasmosis
hsa04662B cell receptor signaling pathway
hsa05235PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05142Chagas disease
hsa04658Th1 and Th2 cell differentiation
hsa05222Small cell lung cancer
hsa04657IL-17 signaling pathway
hsa05220Chronic myeloid leukemia
hsa05215Prostate cancer
hsa05120Epithelial cell signaling in Helicobacter pylori infection
hsa04622RIG-I-like receptor signaling pathway
hsa04920Adipocytokine signaling pathway
hsa05212Pancreatic cancer
hsa05221Acute myeloid leukemia
hsa04623Cytosolic DNA-sensing pathway
hsa05340Primary immunodeficiency
hsa01523Antifolate resistance

Diseases

Expand All | Collapse All
Associated diseases References
Ectodermal dysplasia associated immunodeficiency KEGG:H00095
Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency KEGG:H00540
Incontinentia pigmenti KEGG:H00645
Immunodeficiency without anhidrotic ectodermal dysplasia KEGG:H01245
Ectodermal dysplasia associated immunodeficiency KEGG:H00095
Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency KEGG:H00540
Incontinentia pigmenti KEGG:H00645
Immunodeficiency without anhidrotic ectodermal dysplasia KEGG:H01245
Bloch-Sulzberger syndrome PMID:10839543
Bloch-Sulzberger syndrome PMID:15833158
Behcet's disease PMID:20412081
Hypohidrotic ectodermal dysplasia PMID:16333836
Learning disability PMID:24489960
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract