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Aliases for IKBKG Gene

Aliases for IKBKG Gene

  • Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma 2 3
  • FIP3 3 4 6
  • NEMO 3 4 6
  • Inhibitor Of Nuclear Factor Kappa-B Kinase Subunit Gamma 3 4
  • IkB Kinase-Associated Protein 1 3 4
  • I-Kappa-B Kinase Subunit Gamma 3 4
  • NF-Kappa-B Essential Modifier 3 4
  • IkB Kinase Subunit Gamma 3 4
  • Incontinentia Pigmenti 2 3
  • IKK-Gamma 3 4
  • AMCBX1 3 6
  • IKKAP1 3 4
  • FIP-3 3 4
  • IPD2 3 6
  • IKKG 3 4
  • IP2 3 6
  • NF-Kappa-B Essential Modulator 3
  • NFkappaB Essential Modulator 3
  • IkB Kinase Gamma Subunit 3
  • ZC2HC9 3
  • Fip3p 3
  • IMD33 3
  • IP1 3
  • IP 3

External Ids for IKBKG Gene

Previous Symbols for IKBKG Gene

  • IP2
  • IP1

Summaries for IKBKG Gene

Entrez Gene Summary for IKBKG Gene

  • 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]

GeneCards Summary for IKBKG Gene

IKBKG (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma) is a Protein Coding gene. Diseases associated with IKBKG include linear and whorled nevoid hypermelanosis and immunodeficiency 33. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein homodimerization activity and signal transducer activity.

UniProtKB/Swiss-Prot for IKBKG Gene

  • 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. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either Lys-63-linked or linear polyubiquitin) and its functional importance is reported conflictingly. Also considered to be a mediator for TAX activation of NF-kappa-B. Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity. Essential for viral activation of IRF3. Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires Lys-27-linked polyubiquitination.

Gene Wiki entry for IKBKG Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IKBKG Gene

Genomics for IKBKG Gene

Genomic Location for IKBKG Gene

Start:
154,541,165 bp from pter
End:
154,568,573 bp from pter
Size:
27,409 bases
Orientation:
Plus strand

Genomic View for IKBKG Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IKBKG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IKBKG Gene

Regulatory Elements for IKBKG Gene

Proteins for IKBKG Gene

  • Protein details for IKBKG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6K9-NEMO_HUMAN
    Recommended name:
    NF-kappa-B essential modulator
    Protein Accession:
    Q9Y6K9
    Secondary Accessions:
    • Q7LBY6
    • Q7Z7F1

    Protein attributes for IKBKG Gene

    Size:
    419 amino acids
    Molecular mass:
    48198 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Component of the I-kappa-B-kinase (IKK) core complex consisting of CHUK, IKBKB and IKBKG; probably four alpha/CHUK-beta/IKBKB dimers are associated with four gamma/IKBKG subunits. The IKK core complex seems to associate with regulatory or adapter proteins to form a IKK-signalosome holo-complex. The IKK complex associates with TERF2IP/RAP1, leading to promote IKK-mediated phosphorylation of RELA/p65. Part of a complex composed of NCOA2, NCOA3, CHUK/IKKA, IKBKB, IKBKG and CREBBP. Interacts with COPS3, CYLD, NALP2, TRPC4AP and LRDD. Interacts with ATM; the complex is exported from the nucleus. Interacts with TRAF6. Interacts with HTLV-1 Tax oncoprotein; the interaction activates IKBKG. Interacts with IKBKE. Interacts with TANK; the interaction is enhanced by IKBKE and TBK1. Part of a ternary complex consisting of TANK, IKBKB and IKBKG. Interacts with ZFAND5. Interacts with RIPK2. Interacts with TNIP1 and TNFAIP3; TNIP1 facilitates the TNFAIP3-mediated de-ubiquitination of IKBKG. Interacts with TNFAIP3; the interaction is induced by TNF stimulation and by polyubiquitin. Binds polyubiquitin; the interaction is mediated by two domains; reports about the binding to Lys-63-linked and/or linear polyubiquitin, respective binding affinities and stoichiometry are conflicting. Interacts with Shigella flexneri ipah9.8; the interaction promotes TNIP1-dependent Lys-27-linked polyubiquitination of IKBKG which perturbs NF-kappa-B activation during bacterial infection. Interacts with NLRP10.

    Three dimensional structures from OCA and Proteopedia for IKBKG Gene

    Alternative splice isoforms for IKBKG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IKBKG Gene

Proteomics data for IKBKG Gene at MOPED

Post-translational modifications for IKBKG Gene

  • Neddylated by TRIM40, resulting in stabilization of NFKBIA and down-regulation of NF-kappa-B activity.
  • Phosphorylation at Ser-68 attenuates aminoterminal homodimerization.
  • Polyubiquitinated on Lys-285 through Lys-63; the ubiquitination is mediated by NOD2 and RIPK2 and probably plays a role in signaling by facilitating interactions with ubiquitin domain-containing proteins and activates the NF-kappa-B pathway. Polyubiquitinated on Lys-399 through Lys-63; the ubiquitination is mediated by BCL10, MALT1 and TRAF6 and probably plays a role in signaling by facilitating interactions with ubiquitin domain-containing proteins and activates the NF-kappa-B pathway. Monoubiquitinated on Lys-277 and Lys-309; promotes nuclear export. Polyubiquitinated through Lys-27 by TRIM23; involved in antiviral innate and inflammatory responses. Linear polyubiquitinated on Lys-111, Lys-143, Lys-226, Lys-246, Lys-264, Lys-277, Lys-285, Lys-292, Lys-302, Lys-309 and Lys-326; the head-to-tail polyubiquitination is mediated by the LUBAC complex and plays a key role in NF-kappa-B activation. Polyubiquitinated on Lys-309 and Lys-321 via Lys-27-linked ubiquitin by Shigella flexneri E3 ubiquitin-protein ligase ipah9.8, leading to its degradation by the proteasome.
  • Sumoylated on Lys-277 and Lys-309 with SUMO1; the modification results in phosphorylation of Ser-85 by ATM leading to a replacement of the sumoylation by mono-ubiquitination on these residues.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys111, Lys139, Lys143, Lys226, Lys246, Lys264, Lys283, Lys285, Lys292, Lys302, Lys321, Lys325, Lys326, and Lys399

No data available for DME Specific Peptides for IKBKG Gene

Domains for IKBKG Gene

Gene Families for IKBKG Gene

HGNC:
  • ZC2HC :Zinc fingers, C2HC-type containing

Protein Domains for IKBKG Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

NEMO_HUMAN
Domain:
  • The leucine-zipper domain and the C2HC-type zinc-finger are essential for polyubiquitin binding and for the activation of IRF3.:
    • Q9Y6K9
Similarity:
  • Contains 1 C2HC-type zinc finger.:
    • Q9Y6K9
genes like me logo Genes that share domains with IKBKG: view

Function for IKBKG Gene

Molecular function for IKBKG Gene

GENATLAS Biochemistry: inhibitor of kappa light polypeptide enhancer in B cells,kinase gamma,complexing with IKBKA and IKBKB,associating preferentially with IKBKB,required for the activation of the complex
UniProtKB/Swiss-Prot 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. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either Lys-63-linked or linear polyubiquitin) and its functional importance is reported conflictingly. Also considered to be a mediator for TAX activation of NF-kappa-B. Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity. Essential for viral activation of IRF3. Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires Lys-27-linked polyubiquitination.

Gene Ontology (GO) - Molecular Function for IKBKG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity TAS 9927690
GO:0005515 protein binding IPI 11113112
GO:0019904 protein domain specific binding IPI 15341735
GO:0031625 ubiquitin protein ligase binding IPI 23453807
GO:0042803 protein homodimerization activity IDA 23091055
genes like me logo Genes that share ontologies with IKBKG: view
genes like me logo Genes that share phenotypes with IKBKG: view

Animal Models for IKBKG Gene

MGI Knock Outs for IKBKG:

miRNA for IKBKG Gene

miRTarBase miRNAs that target IKBKG

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for IKBKG Gene

Localization for IKBKG Gene

Subcellular locations from UniProtKB/Swiss-Prot for IKBKG Gene

Cytoplasm. Nucleus. Note=Sumoylated NEMO accumulates in the nucleus in response to genotoxic stress.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IKBKG Gene COMPARTMENTS Subcellular localization image for IKBKG gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for IKBKG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IPI 17314283
GO:0000922 spindle pole IDA 24561039
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA 14651848
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with IKBKG: view

Pathways for IKBKG Gene

SuperPathways for IKBKG Gene

genes like me logo Genes that share pathways with IKBKG: view

Gene Ontology (GO) - Biological Process for IKBKG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS --
GO:0001782 B cell homeostasis IEA --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with IKBKG: view

Compounds for IKBKG Gene

(10) Novoseek inferred chemical compound relationships for IKBKG Gene

Compound -log(P) Hits PubMed IDs
zinc 39 18
geldanamycin 32.1 1
leucine 31.5 4
cytidine 18.7 1
serine 4.26 3

(4) PharmGKB related drug/compound annotations for IKBKG Gene

Drug/compound Annotation
artesunate CA
primaquine CA
pyrimethamine CA
sulfadoxine CA
genes like me logo Genes that share compounds with IKBKG: view

Transcripts for IKBKG Gene

Unigene Clusters for IKBKG Gene

Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IKBKG Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13
SP1: - - - - -
SP2: - -
SP3: - -
SP4: -
SP5: - - - - -
SP6: - -
SP7: - - - - -
SP8: - - -
SP9: - - -
SP10: - - - - -
SP11:

Relevant External Links for IKBKG Gene

GeneLoc Exon Structure for
IKBKG
ECgene alternative splicing isoforms for
IKBKG

Expression for IKBKG Gene

mRNA expression in normal human tissues for IKBKG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IKBKG Gene

This gene is overexpressed in Whole Blood (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for IKBKG Gene

SOURCE GeneReport for Unigene cluster for IKBKG Gene Hs.43505

mRNA Expression by UniProt/SwissProt for IKBKG Gene

Q9Y6K9-NEMO_HUMAN
Tissue specificity: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas
genes like me logo Genes that share expressions with IKBKG: view

Orthologs for IKBKG Gene

This gene was present in the common ancestor of chordates.

Orthologs for IKBKG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100610002 36
  • 98.8 (n)
  • 98.62 (a)
cow
(Bos Taurus)
Mammalia IKBKG 36
  • 83.77 (n)
  • 82.24 (a)
dog
(Canis familiaris)
Mammalia IKBKG 36
  • 89.05 (n)
  • 90.07 (a)
mouse
(Mus musculus)
Mammalia Ikbkg 36
  • 84.25 (n)
  • 87.35 (a)
Ikbkg 16
rat
(Rattus norvegicus)
Mammalia Ikbkg 36
  • 84.47 (n)
  • 88.83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ikbkg 36
  • 60.55 (n)
  • 52.51 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5570 36
zebrafish
(Danio rerio)
Actinopterygii ikbkg 36
  • 54.93 (n)
  • 48.66 (a)
Species with no ortholog for IKBKG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IKBKG Gene

ENSEMBL:
Gene Tree for IKBKG (if available)
TreeFam:
Gene Tree for IKBKG (if available)

Paralogs for IKBKG Gene

No data available for Paralogs for IKBKG Gene

Variants for IKBKG Gene

Sequence variations from dbSNP and Humsavar for IKBKG Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs4256746 -- 154,550,414(+) gagaa(A/G)gctac intron-variant
rs5986993 -- 154,553,152(+) CCTAA(A/G)TGTCC intron-variant
rs6643680 -- 154,553,661(+) ttgta(C/T)gttgt intron-variant
rs12861291 -- 154,550,639(+) agcca(C/G)caaga intron-variant
rs34585701 -- 154,549,740(+) TCCCC(-/C)TCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IKBKG Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv508816 CNV Insertion 20534489
esv24652 CNV Gain 19812545
esv27496 CNV Gain+Loss 19812545

Relevant External Links for IKBKG Gene

HapMap Linkage Disequilibrium report
IKBKG
Human Gene Mutation Database (HGMD)
IKBKG
Locus Specific Mutation Databases (LSDB)
IKBKG

Disorders for IKBKG Gene

(6) OMIM Diseases for IKBKG Gene (300248)

UniProtKB/Swiss-Prot

NEMO_HUMAN
  • Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291]: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. {ECO:0000269 PubMed:11047757, ECO:0000269 PubMed:11224521, ECO:0000269 PubMed:11242109, ECO:0000269 PubMed:12045264, ECO:0000269 PubMed:15100680}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema (OLEDAID) [MIM:300301]: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the association of anhidrotic ectodermal dysplasia with severe immunodeficiency, osteopetrosis and lymphedema. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584]: Patients manifest immunodeficiency not associated with other abnormalities, and resulting in increased susceptibility to infections. Patients suffer from multiple episodes of infectious diseases. {ECO:0000269 PubMed:15100680, ECO:0000269 PubMed:15356572}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency 33 (IMD33) [MIM:300636]: A X-linked recessive form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. {ECO:0000269 PubMed:16818673}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Recurrent isolated invasive pneumococcal disease 2 (IPD2) [MIM:300640]: Recurrent invasive pneumococcal disease (IPD) is defined as two episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains. Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD. {ECO:0000269 PubMed:16950813}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Incontinentia pigmenti (IP) [MIM:308300]: A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring. {ECO:0000269 PubMed:10839543, ECO:0000269 PubMed:11590134, ECO:0000269 PubMed:15229184, ECO:0000269 PubMed:17728323, ECO:0000269 PubMed:20434027, ECO:0000269 PubMed:24339369}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(16) Novoseek inferred disease relationships for IKBKG Gene

Disease -log(P) Hits PubMed IDs
incontinentia pigmenti 95.4 39
ectodermal dysplasia, hypohidrotic 85.3 12
ectodermal dysplasia 80.8 9
leukemia t-cell 67.8 5
necrosis 50.8 14

Relevant External Links for IKBKG

GeneTests
IKBKG
GeneReviews
IKBKG
Genetic Association Database (GAD)
IKBKG
Human Genome Epidemiology (HuGE) Navigator
IKBKG
genes like me logo Genes that share disorders with IKBKG: view

Publications for IKBKG Gene

  1. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (PMID: 11590134) Aradhya S. … Nelson D.L. (Hum. Mol. Genet. 2001) 2 3 4 23
  2. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling. (PMID: 11242109) Doeffinger R. … Casanova J.-L. (Nat. Genet. 2001) 3 4 23
  3. Tetrameric oligomerization of IkappaB kinase gamma (IKKgamma) is obligatory for IKK complex activity and NF-kappaB activation. (PMID: 12612076) Tegethoff S. … Scheidereit C. (Mol. Cell. Biol. 2003) 3 4 23
  4. Role of adapter function in oncoprotein-mediated activation of NF- kappaB: human T-cell leukemia virus type I Tax interacts directly with IkappaB kinase gamma. (PMID: 10364167) Jin D.-Y. … Jeang K.-T. (J. Biol. Chem. 1999) 3 4 23
  5. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. (PMID: 10839543) Smahi A. … Nelson D.L. (Nature 2000) 3 4 23

Products for IKBKG Gene

  • Addgene plasmids for IKBKG

Sources for IKBKG Gene

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