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 s... See more...

Aliases for IKBKG Gene

Aliases for IKBKG Gene

  • Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma 2 3 5
  • IKK-Gamma 2 3 4
  • FIP-3 2 3 4
  • FIP3 2 3 4
  • NEMO 2 3 4
  • Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma 2 3
  • Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma 2 3
  • IkB Kinase-Associated Protein 1 3 4
  • NF-Kappa-B Essential Modulator 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
  • IKKAP1 3 4
  • ZC2HC9 2 3
  • Fip3p 2 3
  • IKKG 3 4
  • Inhibitor Of Nuclear Factor Kappa-B Kinase Subunit Gamma 4
  • AMCBX1 3
  • EDAID1 3
  • IMD33 3
  • IKBKG 5
  • 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 Regulatory Subunit Gamma) is a Protein Coding gene. Diseases associated with IKBKG include Incontinentia Pigmenti and Ectodermal Dysplasia And Immunodeficiency 1. Among its related pathways are Antigen processing-Cross presentation and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and obsolete signal transducer activity. An important paralog of this gene is OPTN.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IKBKG Gene

Genomics for IKBKG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IKBKG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ154540 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 624 +4.3 4347 10.1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 LEF1 SOX13 IKZF1 ZNF692 IKBKG G6PD lnc-FAM3A-2 FAM3A DKC1 SNORA56 HCFC1 F8A1 F8A2 SNORA70
GH0XJ154796 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.3 +260.1 260101 10.6 CREB1 GATAD2A PRDM10 ZNF629 LEF1 IKZF1 BACH1 JUND LARP7 DDX20 MPP1 F8A1 DKC1 SNORA56 F8A2 SNORA70 SNORA36A IKBKG TMLHE HCFC1
GH0XJ154726 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 11.3 +191.9 191912 12.7 IKZF1 JUND ZIC2 CTCF SP1 HDAC1 YY1 EGR1 CEBPB ESR1 F8A1 F8A2 DKC1 IKBKG GAB3 EMD F8 DNASE1L1 TKTL1 MPP1
GH0XJ154038 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 10 -499.6 -499551 5.9 GATAD2A ZNF600 CEBPA SCRT2 CEBPB FOS TEAD1 NR2F2 SAP130 BHLHE40 TMEM187 IRAK1 HCFC1 HCFC1-AS1 IKBKG ABCD1 DNASE1L1 MECP2 FAM50A ATP6AP1
GH0XJ154364 Promoter/Enhancer 2.7 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.3 -167.8 -167798 17.2 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 CTCF TEAD4 PRDM10 ZNF629 RFX1 FLNA EMD ENSG00000285018 PLXNA3 DKC1 FAM50A HCFC1 IKBKG CH17-340M24.3 F8A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IKBKG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IKBKG

Top Transcription factor binding sites by QIAGEN in the IKBKG gene promoter:
  • HNF-4alpha1
  • p53

Genomic Locations for IKBKG Gene

Genomic Locations for IKBKG Gene
chrX:154,541,199-154,565,046
(GRCh38/hg38)
Size:
23,848 bases
Orientation:
Plus strand
chrX:153,769,414-153,796,782
(GRCh37/hg19)
Size:
27,369 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 PIDD1. Interacts with ATM; the complex is exported from the nucleus. Interacts with TRAF6. 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 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). Interacts with TRIM29; this interaction induces IKBKG/NEMO ubiquitination and proteolytic degradation (PubMed:27695001). Interacts with TRIM13; this interaction leads to IKBKG/NEMO ubiquitination (PubMed:25152375). Interacts with ARFIP2 (PubMed:26296658). Interacts with RIPK1 (By similarity).
    • (Microbial infection) Interacts with Molluscum contagiosum virus protein MC005; this interaction inhibits NF-kappa-B activation.
    • (Microbial infection) Interacts with HTLV-1 Tax oncoprotein; the interaction activates IKBKG.
    • (Microbial infection) 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.

    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

  • 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. Deubiquitinated by USP10 in a TANK-dependent and -independent manner, leading to the negative regulation of NF-kappa-B 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.
  • Neddylated by TRIM40, resulting in stabilization of NFKBIA and down-regulation of NF-kappa-B activity.
  • (Microbial infection) Cleaved by hepatitis A virus (HAV) protease 3C allowing the virus to disrupt the host innate immune signaling.
  • (Microbial infection) 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.
  • Ubiquitination at Lys111, Lys139, Lys143, Lys226, Lys246, Lys321, Lys325, Lys326, Lys264, Lys283, Lys285, Lys292, Lys399, and Lys302
  • Modification sites at PhosphoSitePlus

Antibody Products

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IKBKG Gene

GenScript: Design optimal peptide antigens:
  • Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma, isoform CRA_b (D3DWY0_HUMAN)
  • Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma, isoform CRA_a (D3DWY2_HUMAN)
  • NF-kappa-B essential modifier (NEMO_HUMAN)

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

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.
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

Phenotypes From GWAS Catalog for IKBKG Gene

Gene Ontology (GO) - Molecular Function for IKBKG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9751060
GO:0019904 protein domain specific binding IPI 15341735
GO:0031625 ubiquitin protein ligase binding IPI 23453807
GO:0042802 identical protein binding IPI 18462684
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

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IKBKG

Clone Products

  • Addgene plasmids for IKBKG

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 3
extracellular 3
mitochondrion 3
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

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:0005623 cell IEA --
GO:0005634 nucleus IBA,IDA 14651848
genes like me logo Genes that share ontologies with IKBKG: view

Pathways & Interactions for IKBKG Gene

PathCards logo

SuperPathways for IKBKG Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 TNFR1 Pathway
.87
.87
.56
.55
.52
.46
.42
.42
.40
.35
3 Cytosolic sensors of pathogen-associated DNA
4 4-1BB Pathway
.54
.54
.48
.46
.42
.42
.37
.36
.30
5 Toll-like Receptor Signaling Pathway
genes like me logo Genes that share pathways with IKBKG: view

Pathways by source for IKBKG Gene

1 Sino Biological pathway for IKBKG Gene
22 GeneGo (Thomson Reuters) pathways for IKBKG Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
  • Apoptosis and survival APRIL and BAFF signaling
  • Apoptosis and survival Lymphotoxin-beta receptor signaling
  • Apoptosis and survival TNFR1 signaling pathway
62 Qiagen pathways for IKBKG Gene
  • 14-3-3 Induced Apoptosis
  • 4-1BB Pathway
  • Activation of NF-KappaB by PKR
  • Akt Signaling
  • Angiopoietin-TIE2 Signaling
1 Cell Signaling Technology pathway for IKBKG Gene
2 GeneTex pathways for IKBKG Gene

SIGNOR curated interactions for IKBKG Gene

Activates:
Is activated by:
Is inactivated by:

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:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
GO:0006915 apoptotic process TAS 9927690
genes like me logo Genes that share ontologies with IKBKG: view

Drugs & Compounds for IKBKG Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Artesunate Approved, Investigational Pharma 211
Primaquine Approved Pharma 99
Pyrimethamine Approved, Investigational, Vet_approved Pharma Inhibitor, Inhibition DHFR inhibitor, Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor 176
Sulfadoxine Approved, Investigational Pharma 146
Luteolin Experimental Pharma Antioxidant and free radical scavenger 7

(2) 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

mRNA/cDNA for IKBKG Gene

10 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IKBKG

Clone Products

  • Addgene plasmids for IKBKG

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

No ASD Table

Relevant External Links for IKBKG Gene

GeneLoc Exon Structure for
IKBKG

Expression for IKBKG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Liver(4.6)
  • Lung(4.6)
  • Nervous system(3.7)
  • Blood(3.2)
  • Kidney(3.1)
  • Intestine(3.1)
  • Spleen(3.1)
  • Lymph node(3.1)
  • Bone marrow(2.9)
  • Heart(2.8)
  • Muscle(2.7)
  • Thyroid gland(2.6)
  • Stomach(2.6)
  • Adrenal gland(2.4)
  • Pancreas(2.3)
  • Eye(2.2)
  • Bone(2.1)

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
Regions:
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

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 30
  • 98.8 (n)
Dog
(Canis familiaris)
Mammalia IKBKG 30
  • 89.05 (n)
Rat
(Rattus norvegicus)
Mammalia Ikbkg 30
  • 84.47 (n)
Mouse
(Mus musculus)
Mammalia Ikbkg 30 17
  • 84.25 (n)
Cow
(Bos Taurus)
Mammalia IKBKG 30
  • 83.77 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ikbkg 30
  • 60.55 (n)
Zebrafish
(Danio rerio)
Actinopterygii ikbkg 30
  • 54.93 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5570 30
Species where no ortholog for IKBKG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for IKBKG: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IKBKG Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
11451 Pathogenic: Incontinentia pigmenti syndrome 154,552,119(+) G/GCACCTGCCTT FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
11458 Pathogenic: Incontinentia pigmenti syndrome 154,564,364(+) C/CCCCCGAGGAGCCA FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
667603 Likely Benign: not provided 154,563,942(+) G/A INTRON_VARIANT
811123 Uncertain Significance: not specified 154,546,782(+) C/G INTRON_VARIANT
811461 Benign: not specified 154,542,419(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for IKBKG Gene

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)

Additional Variant Information for IKBKG Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for IKBKG Gene

MalaCards: The human disease database

(39) MalaCards diseases for IKBKG Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
incontinentia pigmenti
  • incontinentia pigmenti achromians
ectodermal dysplasia and immunodeficiency 1
  • edaid1
immunodeficiency 33
  • imd33
immunodeficiency without anhidrotic ectodermal dysplasia
  • immunodeficiency, isolated
hypohidrotic ectodermal dysplasia with immunodeficiency
  • ectodermal dysplasia, hypohidrotic, with immune deficiency
- 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 and immunodeficiency 1 (EDAID1) [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, 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]: An 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.
  • 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:19033441, ECO:0000269 PubMed:20434027, ECO:0000269 PubMed:24339369}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IKBKG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IKBKG: view

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 23
  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 23
  3. Structural basis for recognition of diubiquitins by NEMO. (PMID: 19185524) Lo YC … Wu H (Molecular cell 2009) 3 4 23
  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 23
  5. A critical role of RICK/RIP2 polyubiquitination in Nod-induced NF-kappaB activation. (PMID: 18079694) Hasegawa M … Inohara N (The EMBO journal 2008) 3 4 23

Products for IKBKG Gene