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Aliases for IKBKG Gene

Aliases for IKBKG Gene

  • Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma 2 3 5
  • Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma 2 3
  • 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
  • IKKAP1 3 4
  • FIP-3 3 4
  • FIP3 3 4
  • IKKG 3 4
  • NEMO 3 4
  • Inhibitor Of Nuclear Factor Kappa-B Kinase Subunit Gamma 4
  • NF-Kappa-B Essential Modulator 3
  • AMCBX1 3
  • ZC2HC9 3
  • Fip3p 3
  • IMD33 3
  • IPD2 3
  • IP1 3
  • IP2 3
  • IP 3

External Ids for IKBKG Gene

Previous HGNC Symbols for IKBKG Gene

  • IP2
  • IP1

Previous GeneCards Identifiers for IKBKG Gene

  • GC0XM147930
  • GC0XP150151
  • GC0XP151354
  • GC0XP152238
  • GC0XP152243
  • GC0XP153334
  • GC0XP153423
  • GC0XP153769
  • GC0XP142347

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. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]

GeneCards Summary for IKBKG Gene

IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma) is a Protein Coding gene. Diseases associated with IKBKG include Incontinentia Pigmenti and Immunodeficiency 33. Among its related pathways are 4-1BB Pathway and Dimerization of procaspase-8. GO annotations related to this gene include protein homodimerization activity and signal transducer activity. An important paralog of this gene is OPTN.

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

Additional gene information for IKBKG Gene

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

Genomics for IKBKG Gene

Regulatory Elements for IKBKG Gene

Enhancers for IKBKG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH154540 1.5 FANTOM5 ENCODE 18.4 +1.1 1139 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 FOS FAM3A IKBKG F8A1 F8A2 GAB3 MECP2 MPP1 EMD DNASE1L1 IRAK1
GH0XH154796 2 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +260.2 260202 10 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF766 F8A1 DKC1 SNORA56 F8A2 SNORA70 SNORA36A IKBKG TMLHE HCFC1 PLXNA3
GH0XH154723 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +190.2 190226 16 FOXA2 ZFP64 YY1 FOS RUNX3 ZC3H11A JUNB REST ZNF623 ZNF518A DKC1 SNORA70 HCFC1 F8A1 SNORA56 EMD GAB3 PLXNA3 F8A2 SLC10A3
GH0XH154038 1.5 FANTOM5 Ensembl ENCODE 10 -497.9 -497896 9 CTCF ZSCAN4 ZNF133 MAX CEBPG FEZF1 EBF1 ZIC2 RAD21 TEAD3 TMEM187 HCFC1-AS1 HCFC1 IKBKG ABCD1 DNASE1L1 MECP2 FAM50A ATP6AP1 EMD
GH0XH154717 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.1 +177.5 177516 3 HDGF PKNOX1 ARNT GATA2 ATF7 RUNX3 ZNF518A SMARCA4 PBX2 HMBOX1 F8A1 GAB3 F8A2 MPP1 IKBKG EMD DNASE1L1 TAZ TEX28 OR3B1P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IKBKG on UCSC Golden Path with GeneCards custom track

Genomic Location for IKBKG Gene

Chromosome:
X
Start:
154,541,199 bp from pter
End:
154,568,573 bp from pter
Size:
27,375 bases
Orientation:
Plus strand

Genomic View for IKBKG Gene

Genes around IKBKG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IKBKG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IKBKG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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. Interacts with TANK; this interaction increases in response to DNA damage (PubMed:25861989). Interacts with USP10; this interaction increases in response to DNA damage (PubMed:25861989). Interacts with ZC3H12A; this interaction increases in response to DNA damage (PubMed:25861989). Interacts with IFIT5; the interaction synergizes the recruitment of IKK to MAP3K7 and enhances IKK phosphorylation (PubMed:26334375).

    Three dimensional structures from OCA and Proteopedia for IKBKG Gene

    Alternative splice isoforms for IKBKG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IKBKG Gene

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. Deubiquitinated by USP10 in a TANK-dependent and -independent manner, leading to the negative regulation of NF-kappaB signaling upon DNA damage (PubMed:25861989).
  • 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.
  • Ubiquitination at posLast=111111, isoforms=2, 3139, posLast=143143, isoforms=2, 3226, isoforms=2, 3246, isoforms=2264, isoforms=2283, posLast=285285, isoforms=2292, isoforms=2302, isoforms=2, 3321, posLast=325325, posLast=326326, and isoforms=2, 3399
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IKBKG Gene

Domains & Families for IKBKG Gene

Gene Families for IKBKG Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for IKBKG Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6K9

UniProtKB/Swiss-Prot:

NEMO_HUMAN :
  • The leucine-zipper domain and the CCHC NOA-type zinc-finger are essential for polyubiquitin binding and for the activation of IRF3.
Domain:
  • The leucine-zipper domain and the CCHC NOA-type zinc-finger are essential for polyubiquitin binding and for the activation of IRF3.
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.

Phenotypes From GWAS Catalog for IKBKG Gene

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 9751060
GO:0019904 protein domain specific binding IPI 15341735
GO:0031593 polyubiquitin binding IEA --
GO:0031625 ubiquitin protein ligase binding IPI 23453807
genes like me logo Genes that share ontologies with IKBKG: view
genes like me logo Genes that share phenotypes with IKBKG: view

Human Phenotype Ontology for IKBKG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IKBKG Gene

MGI Knock Outs for IKBKG:

Animal Model Products

CRISPR Products

miRNA for IKBKG Gene

miRTarBase miRNAs that target IKBKG

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IKBKG gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
endosome 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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,IEA 14651848
GO:0005737 cytoplasm IEA,IDA 11113112
genes like me logo Genes that share ontologies with IKBKG: view

Pathways & Interactions for IKBKG Gene

SuperPathways for IKBKG Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 TNFR1 Pathway
3 4-1BB Pathway
4 Toll-Like receptor Signaling Pathways
5 Cytosolic sensors of pathogen-associated DNA
genes like me logo Genes that share pathways with IKBKG: view

SIGNOR curated interactions for IKBKG Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for IKBKG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with IKBKG: view

Drugs & Compounds for IKBKG Gene

(26) Drugs for IKBKG Gene - From: DrugBank, PharmGKB, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Artesunate Approved Pharma 188
Primaquine Approved Pharma 78
Pyrimethamine Approved, Vet_approved Pharma Inhibition, Inhibitor DHFR inhibitor 160
Sulfadoxine Approved Pharma 134
AGRO100 Investigational Pharma Target 0

(1) Additional Compounds for IKBKG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(11) ApexBio Compounds for IKBKG Gene

Compound Action Cas Number
Andrographolide NF-κB signaling Inhibitor 5508-58-7
Bay 11-7085 NK-κB activation inhibitor 196309-76-9
Bay 11-7821(BAY 11-7082) IKK/NF-κB/TNFα inhibitor 19542-67-7
BMS-345541 IKK inhibitor,highly selective 547757-23-3
Honokiol Antioxidant/antitumor/antiangiogenic agent 35354-74-6
IKK-16 (IKK Inhibitor VII) Selective IκB kinase inhibitor 873225-46-8
IMD 0354 978-62-1
Luteolin Antioxidant and free radical scavenger 491-70-3
Tanshinone IIA Antioxidant and anti-inflammatory reagent 568-72-9
TPCA-1 IKK-2 inhibitor,potent and selective 507475-17-4
WS6 1421227-53-3
genes like me logo Genes that share compounds with IKBKG: view

Drug Products

Transcripts for IKBKG Gene

Unigene Clusters for IKBKG Gene

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

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for IKBKG Gene

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

This gene is overexpressed in Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for IKBKG Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.3) and Bone marrow stromal cell (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IKBKG Gene



Protein tissue co-expression partners for IKBKG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IKBKG Gene:

IKBKG

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.

Evidence on tissue expression from TISSUES for IKBKG Gene

  • Skin(4.6)
  • Liver(4.4)
  • Lung(4.4)
  • Nervous system(3.4)
  • Blood(2.6)
  • Intestine(2.3)
  • Kidney(2.1)
  • Muscle(2.1)
  • Lymph node(2)
  • Spleen(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IKBKG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • lymph node
  • lymph vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with IKBKG: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for IKBKG Gene

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 33
  • 98.8 (n)
dog
(Canis familiaris)
Mammalia IKBKG 33
  • 89.05 (n)
rat
(Rattus norvegicus)
Mammalia Ikbkg 33
  • 84.47 (n)
mouse
(Mus musculus)
Mammalia Ikbkg 33 16
  • 84.25 (n)
cow
(Bos Taurus)
Mammalia IKBKG 33
  • 83.77 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ikbkg 33
  • 60.55 (n)
zebrafish
(Danio rerio)
Actinopterygii ikbkg 33
  • 54.93 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5570 33
Species where no ortholog for IKBKG was found in the sources mined by GeneCards:
  • 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

Paralogs for IKBKG Gene

Pseudogenes.org Pseudogenes for IKBKG Gene

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

Variants for IKBKG Gene

Sequence variations from dbSNP and Humsavar for IKBKG Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs137853322 Pathogenic, Incontinentia pigmenti (IP) [MIM:308300] 154,564,420(+) CTGAT(A/G)TGGAC reference, missense
rs137853325 Pathogenic, Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291] 154,564,450(+) TGGAG(C/T)GCATT reference, missense
rs137853326 Pathogenic, Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291], Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia (NEMOID) [MIM:300584] 154,564,451(+) GGAGT(A/G/T)CATTG reference, missense
rs137853327 Pathogenic, Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291] 154,564,418(+) CCCTG(A/T)TATGG reference, missense
rs137853328 Pathogenic, Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291] 154,558,590(+) GGAGC(G/T)GCAGG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2541e212 CNV gain 25503493
dgv2542e212 CNV gain 25503493
esv24652 CNV gain 19812545
esv27496 CNV gain+loss 19812545
esv33199 CNV gain+loss 17666407
esv3369299 OTHER inversion 20981092
esv33784 CNV gain+loss 17666407
esv3577555 CNV gain 25503493
nsv1152200 CNV duplication 26484159
nsv508816 CNV insertion 20534489
nsv519042 CNV gain 19592680

Variation tolerance for IKBKG Gene

Gene Damage Index Score: 0.09; 2.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IKBKG Gene

Human Gene Mutation Database (HGMD)
IKBKG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IKBKG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IKBKG Gene

Disorders for IKBKG Gene

MalaCards: The human disease database

(22) MalaCards diseases for IKBKG Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
incontinentia pigmenti
  • bloch-sulzberger syndrome
immunodeficiency 33
  • x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency
ectodermal dysplasia, hypohidrotic, with immune deficiency
  • hypohidrotic ectodermal dysplasia with immune deficiency
immunodeficiency, isolated
  • immunodeficiency without anhidrotic ectodermal dysplasia
ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency
  • anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- elite association - COSMIC cancer census association via MalaCards
Search IKBKG in MalaCards View complete list of genes associated with diseases

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:14651848, ECO:0000269 PubMed:15100680, ECO:0000269 PubMed:16547522, ECO:0000269 PubMed:19185524, ECO:0000269 PubMed:21606507}. 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. {ECO:0000269 PubMed:11242109}. 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, ECO:0000269 PubMed:19185524, ECO:0000269 PubMed:19854204}. Note=Disease susceptibility is associated with variations 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.
  • 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:19033441, ECO:0000269 PubMed:20434027, ECO:0000269 PubMed:24339369}. Note=The disease is caused by mutations 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.

Relevant External Links for IKBKG

Genetic Association Database (GAD)
IKBKG
Human Genome Epidemiology (HuGE) Navigator
IKBKG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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No data available for Genatlas for IKBKG Gene

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 DL (Human molecular genetics 2001) 2 3 4 22 60
  2. NEMO gene mutations in Chinese patients with incontinentia pigmenti. (PMID: 20434027) Hsiao PF … Lin YC (Journal of the Formosan Medical Association = Taiwan yi zhi 2010) 3 4 22 60
  3. Structural basis for recognition of diubiquitins by NEMO. (PMID: 19185524) Lo YC … Wu H (Molecular cell 2009) 3 4 22 60
  4. Structure of a NEMO/IKK-associating domain reveals architecture of the interaction site. (PMID: 18462684) Rushe M … Lugovskoy A (Structure (London, England : 1993) 2008) 3 4 22 60
  5. Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation. (PMID: 18313693) Cordier F … Agou F (Journal of molecular biology 2008) 3 4 22 60

Products for IKBKG Gene

  • Addgene plasmids for IKBKG

Sources for IKBKG Gene

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