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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IKBKG Gene

protein-coding   GIFtS: 67
GCID: GC0XP153769

inhibitor of kappa light polypeptide gene enhancer in B-cells,...

(Previous name: incontinentia pigmenti )
(Previous symbols: IP2, IP1)
 Explore 63 diseases affiliated with
IKBKG via
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 Human Malady Compendium 
Biological research products
for IKBKG    

Aliases
for IKBKG gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase
Gamma1 2
     Inhibitor Of Nuclear Factor Kappa-B Kinase Subunit Gamma2 3
FIP31 2 3 5     IKKAP12 3
NEMO1 2 3 5     IKKG2 3
FIP-31 2 3     I-Kappa-B Kinase Subunit Gamma2 3
IKK-Gamma1     NF-Kappa-B Essential Modifier2 3
IP21 2 5     AMCBX12 5
Fip3p1 2     IPD22 5
IP11 2     IP2
ZC2HC91 2     IkB Kinase Gamma Subunit2
Incontinentia Pigmenti1 2     NF-Kappa-B Essential Modulator2
IkB Kinase Subunit Gamma2 3     NFkappaB Essential Modulator2
IkB Kinase-Associated Protein 12 3     

External Ids:    HGNC: 59611   Entrez Gene: 85172   Ensembl: ENSG000000730097   OMIM: 3002485   UniProtKB: Q9Y6K93   

Export aliases for IKBKG gene to outside databases

Previous GC identifers: GC0XM147930 GC0XP150151 GC0XP151354 GC0XP152238 GC0XP152243 GC0XP153334 GC0XP153423 GC0XP142347


Summaries
for IKBKG gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for IKBKG:
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)

UniProtKB/Swiss-Prot: NEMO_HUMAN, Q9Y6K9
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 (By similarity). 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


Genomic Views
for IKBKG gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IKBKG gene promoter:
         p53   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): IKBKG promoter sequence
   Search SABiosciences Chromatin IP Primers for IKBKG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IKBKG


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

IKBKG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IKBKG gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153769:  view genomic region     (about GC identifiers)

Start:
 153,769,414 bp from pter      End:
 153,796,782 bp from pter
Size:
 27,369 bases      Orientation:
 plus strand

Proteins
for IKBKG gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NEMO_HUMAN, Q9Y6K9 (See protein sequence)
Recommended Name: NF-kappa-B essential modulator  
Size: 419 amino acids; 48198 Da
Subunit: 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 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 (By similarity). 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
Subcellular location: Cytoplasm. Nucleus. Note=Sumoylated NEMO accumulates in the nucleus in response to genotoxic
stress
6 PDB 3D structures from and Proteopedia for IKBKG:
2JVX (3D)        2JVY (3D)        3BRT (3D)        3BRV (3D)        3CL3 (3D)        3FX0 (3D)    
Secondary accessions: Q7LBY6 Q7Z7F1
Alternative splicing: 3 isoforms:  Q9Y6K9-1   Q9Y6K9-2   Q9Y6K9-3   

Explore the universe of human proteins at neXtProt for IKBKG: NX_Q9Y6K9

Post-translational modifications:

  • Phosphorylation at Ser-68 attenuates aminoterminal homodimerization1
  • 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 proteasome1
  • 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 residues1
  • Neddylated by TRIM40, resulting in stabilization of NFKBIA and down-regulation of NF-kappa-B activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6K9

    • IKBKG Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001093326.2  NP_001093327.1  NP_001138727.1  NP_003630.1  

    ENSEMBL proteins: 
     ENSP00000394934   ENSP00000390368   ENSP00000358622   ENSP00000358620   ENSP00000395205  
     ENSP00000358619   ENSP00000398579   ENSP00000263518   ENSP00000420565   ENSP00000377180  
     ENSP00000400769   ENSP00000358615   ENSP00000401308   ENSP00000358614  
    Reactome Protein details: Q9Y6K9
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant IKBKG Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins (see all 3): IKBKG
    OriGene Protein Over-expression Lysate (see all 5): IKBKG
    OriGene Custom Protein Services for IKBKG 
    GenScript Custom Purified and Recombinant Proteins Services for IKBKG
    Novus Biologicals IKBKG Proteins
    Novus Biologicals IKBKG Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus IDA14651848
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0008385colocalizes with IkappaB kinase complex TAS16831874


    IKBKG for ontologies           About GeneDecksing



    IKBKG Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of IKBKG
    R&D Systems Antibodies for IKBKG (IKK gamma)
    Cell Signaling Technology (CST) Antibodies for IKBKG  (IKK-gamma)
    OriGene Antibodies: IKBKG
    OriGene Custom Antibody Services for IKBKG 
    GenScript Custom Superior Antibodies Services for IKBKG
    Novus Biologicals IKBKG Antibodies
    Abcam antibodies for IKBKG 
    Browse Antibodies at Uscn
    ThermoFisher Antibody for IKBKG

    Assay Products for IKBKG: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for IKBKG
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for IKBKG gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IKBKG for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR021063 NEMO_N

    Graphical View of Domain Structure for InterPro Entry Q9Y6K9

    ProtoNet protein and cluster: Q9Y6K9

    UniProtKB/Swiss-Prot: NEMO_HUMAN, Q9Y6K9
    Domain: The leucine-zipper domain and the C2HC-type zinc-finger are essential for polyubiquitin binding and for the
    activation of IRF3
    Similarity: Contains 1 C2HC-type zinc finger


    Function
    for IKBKG gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NEMO_HUMAN, Q9Y6K9
    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 (By similarity). Essential
    for viral activation of IRF3. Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires
    'Lys-27'-linked polyubiquitination

         Genatlas biochemistry entry for IKBKG:
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 4): IKBKG
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IKBKG
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate IKBKG
    SwitchGear 3'UTR luciferase reporter plasmid: IKBKG 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IKBKG (see all 7)
    OriGene shRNA RFP: IKBKG
    OriGene siRNA: IKBKG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IKBKG

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for IKBKG

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IKBKG (see all 13)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IKBKG (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): IKBKG (NM_001099857)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IKBKG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IKBKG 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for IKBKG
    Search LifeMap BioReagents cell lines for IKBKG

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IKBKG

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS9927690
    GO:0005515protein binding IPI15474016
    GO:0019904protein domain specific binding IPI15341735
    GO:0046872metal ion binding IEA--
    GO:0046982protein heterodimerization activity IEA--


    IKBKG for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for IKBKG:
     Decreased p24 protein expressi  Downregulation of NF-kappaB pa  Increased HPV18 LCR reporter a 

    Animal Models:
         Mouse knock-outs for IKBKG: Ikbkgtm1Mka Ikbkgtm1Mpa Ikbkgtm1Mak
         15/17 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Ikbkg) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  normal  pigmentation 

    IKBKG for phenotypes           About GeneDecksing


    Pathways & Interactions
    for IKBKG gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/86 super-pathways (see all 86) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TRAF6 Mediated Induction of proinflammatory cytokines
    8/19 pathways (see all 19)
    		TRAF6 Mediated Induction of proinflammatory cytokines1.00
    		Toll Like Receptor TLR1:TLR2 Cascade0.78
    		MAP kinase activation in TLR cascade0.88
    		Toll Like Receptor 2 (TLR2) Cascade0.78
    		Toll Like Receptor 5 (TLR5) Cascade0.86
    		MyD88:Mal cascade initiated on plasma membrane0.78
    		Toll Like Receptor 10 (TLR10) Cascade0.86
    		TRIF-mediated TLR3/TLR4 signaling 0.73
    2TWEAK Pathway
    8/11 pathways (see all 11)
    		TWEAK Pathway1.00
    		TRAIL Pathway0.40
    		DR3 Signaling0.87
    		TNF Signaling0.40
    		TNFR1 Pathway0.53
    		Apoptotic Pathways Triggered By HIV10.37
    		GITR Pathway0.46
    		Apoptosis through Death Receptors0.32
    34-1BB Pathway
    8/9 pathways (see all 9)
    		4-1BB Pathway1.00
    		NF-KappaB Activation by EBV0.31
    		CD40 Signaling0.54
    		SUMO Pathway0.30
    		CD27 Pathway0.48
    		TNFR2 Pathway0.29
    		CMV and MAPK Pathways0.38
    		NF-kappaB Activation by Viruses0.15
    4RIP-mediated NFkB activation via DAI
    		RIP-mediated NFkB activation via DAI1.00
    		Activation of NF-KappaB by PKR0.33
    		DAI mediated induction of type I IFNs0.85
    		NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -100.21
    		Cytosolic sensors of pathogen-associated DNA 0.58
    		Cellular Transformation by HTLV10.18
    		TRAF6 mediated NF-kB activation0.42
    5BAFF in B-Cell Signaling
    		BAFF in B-Cell Signaling1.00
    		Apoptosis and survival APRIL and BAFF signaling0.39
    		APRIL Pathway0.92
    		RANK Pathway0.29
    		RANK Signaling in Osteoclasts0.45
    		RANKL/RANK Signaling Pathway0.24
    		Apoptosis and survival_APRIL and BAFF signaling0.39

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/17 EMD Millipore Pathways for IKBKG (see all 17)
        Development VEGF signaling and activation
    Immune response Role of TLRs 3 and 4 in cell antiviral response- TICAM1-specific signaling pathways
    Immune response IL-1 signaling pathway
    Signal transduction Activation of PKC via G-Protein coupled receptor
    Transcription NF-kB signaling pathway

    2 R&D Systems Pathways for IKBKG
        Inflammasome Activation Pathways
    Toll-Like receptor Signaling Pathways

    5/62 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for IKBKG (see all 62)
        TWEAK Pathway
    14-3-3 Induced Apoptosis
    LT-BetaR Pathway
    Toll-Like Receptors Pathway
    Antioxidant Action of Vitamin-C

    1 Cell Signaling Technology (CST) Pathway for IKBKG
        NF-kappaB Signaling

    5 Tocris Bioscience Pathways for IKBKG
        Akt Pathway
    Insulin Pathway
    Apoptosis Pathway
    Toll-like Receptor Pathway
    NF-kappaB Pathway

    5/22 GeneGo (Thomson Reuters) Pathways for IKBKG (see all 22)
        Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway
    Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
    Immune response Bacterial infections in normal airways
    Immune response CD28 signaling
    Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

    5/22 BioSystems Pathways for IKBKG (see all 22) 
        EBV LMP1 signaling
    NOD pathway
    NLR proteins
    Apoptosis
    MicroRNAs in cardiomyocyte hypertrophy

    5/47        Reactome Pathways for IKBKG (see all 47)
        NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
    IKK complex recruitment mediated by RIP1
    Toll Like Receptor 2 (TLR2) Cascade
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    Toll Like Receptor TLR6:TLR2 Cascade


    5/23         Kegg Pathways  (Kegg details for IKBKG) (see all 23):
        MAPK signaling pathway
    Chemokine signaling pathway
    Apoptosis
    Osteoclast differentiation
    Toll-like receptor signaling pathway


    IKBKG for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IKBKG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/465 Interacting proteins for IKBKG (Q9Y6K91, 2, 3 ENSP000003586224) via UniProtKB, MINT, STRING, and/or I2D (see all 465)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHUKO151111, 2, 3, ENSP000003594244EBI-356130,EBI-81249 MINT-4652844 MINT-3089462 MINT-48137 MINT-47970 MINT-5115028 I2D: score=9 STRING: ENSP00000359424
    IKBKBO149201, 2, 3, ENSP000003391514EBI-356130,EBI-81266 MINT-48065 MINT-48174 MINT-47971 MINT-3089484 MINT-5115044 I2D: score=9 STRING: ENSP00000339151
    RNF31Q96EP02, 3, ENSP000003151124MINT-8294986 MINT-8410390 MINT-8410293 MINT-8410426 MINT-8410542 I2D: score=3 STRING: ENSP00000315112
    NFKB2Q006532, 3, ENSP000001894444MINT-48565 MINT-47922 MINT-48692 MINT-47900 I2D: score=5 STRING: ENSP00000189444
    RBCK1Q9BYM82, 3, ENSP000003486324MINT-8294986 MINT-8410390 MINT-8410293 MINT-8410542 I2D: score=3 STRING: ENSP00000348632
    About this table

    Gene Ontology (GO): 5/30 biological process terms (GO ID links to tree view) (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity TAS--
    GO:0001782B cell homeostasis IEA--
    GO:0002224toll-like receptor signaling pathway TAS--
    GO:0002755MyD88-dependent toll-like receptor signaling pathway TAS--
    GO:0002756MyD88-independent toll-like receptor signaling pathway TAS--


    IKBKG for ontologies           About GeneDecksing



    Drugs & Compounds
    for IKBKG gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IKBKG for compounds           About GeneDecksing

    EMD Millipore small molecules for IKBKG:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IKBKG
    10 Novoseek chemical compound relationships for IKBKG gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 39 26 14764716 (4), 18313693 (2), 16794254 (2), 18207244 (2) (see all 12)
    geldanamycin 32.1 1 16432176 (1)
    leucine 31.5 7 15107419 (1), 18080803 (1), 10906125 (1), 11080796 (1)
    cytidine 18.7 2 14610488 (1)
    serine 4.26 3 12419799 (1), 16611882 (1), 12657630 (1)
    glucose 3.21 1 16754954 (1)
    calcium 2.78 4 17074802 (2)
    lipid 0 12 19129196 (1), 12496421 (1)
    tyrosine 0 1 16379012 (1)
    arginine 0 2 14764716 (1), 18347055 (1)

    Search CenterWatch for drugs/clinical trials and news about IKBKG / NEMO 

    Transcripts
    for IKBKG gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for IKBKG gene (4 alternative transcripts): 
    NM_001099856.2  NM_001099857.1  NM_001145255.1  NM_003639.3  

    Unigene Cluster for IKBKG:

    Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
    Hs.43505  [show with all ESTs]
    Unigene Representative Sequence: NM_001099857
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000440286 ENST00000422680 ENST00000369609(uc011mzr.2) ENST00000369607
    ENST00000445622 ENST00000369606(uc010nva.3 uc004fmb.4 uc011mzs.2)
    ENST00000413620 ENST00000263518(uc022cii.1 uc010nvc.1 uc010nvd.1)
    ENST00000470142 ENST00000393549 ENST00000455588 ENST00000369602 ENST00000424839
    ENST00000369601(uc004fmd.3) ENST00000490409 ENST00000492469 ENST00000479063


    miRNA
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    Inhib. RNA
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    OriGene siRNA: IKBKG
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF062089.1 AF074382.1 AF091453.1 AF261086.1 AK000593.1 AK308366.1 AY114157.1 AY429546.1 
    AY429547.1 AY429548.1 BC000299.2 BC012114.1 BC046922.1 BC050612.2 BT019621.1 

    21 DOTS entries:

    DT.312097  DT.95289662  DT.121294375  DT.121293894  DT.95289591  DT.100815410  DT.91746867  DT.97817906 
    DT.121294248  DT.100815417  DT.91737686  DT.95149808  DT.100737461  DT.91650957  DT.91746868  DT.100815406 
    DT.100815413  DT.100815416  DT.121293666  DT.121294438  DT.97852905 

    24/250 AceView cDNA sequences (see all 250):

    BU616100 AY429546 BQ674261 CR600010 AI568497 BU170415 AW827142 BI757301 
    BM820769 BX418606 BQ670698 AA973325 BE349377 CA440802 BI917032 AI885861 
    AA350646 BC012114 AW247584 AL547021 BE391247 AA612769 NM_003639 CR612085 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for IKBKG (see all 11)    About this scheme

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


    ECgene alternative splicing isoforms for IKBKG

    Expression
    for IKBKG gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IKBKG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTATTCCATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See IKBKG Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IKBKG

    SOURCE GeneReport for Unigene cluster: Hs.43505

    UniProtKB/Swiss-Prot: NEMO_HUMAN, Q9Y6K9
    Tissue specificity: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas

        SABiosciences Expression via Pathway-Focused PCR Arrays including IKBKG: 
              TNF Ligands & Receptors in human mouse rat
              NFKB Signaling Pathway in human mouse rat
              Inflammasomes in human mouse rat
              Apoptosis 384HT in human mouse rat
              Necrosis in human mouse rat

    Primer
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    In Situ
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    Orthologs
    for IKBKG gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for IKBKG gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia IKBKG6
    		 --
    		 62(a)
    		 1 ↔ 1
    		 2(89761309-89775442)
    zebrafish
    (Danio rerio)    		 Actinopterygii ikbkg1 inhibitor of kappa light polypeptide gene enhancer more 53.28(n)
    46.91(a)    		   541530  NM_001014344.1  NP_001014366.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta key6
    		 kenny
    		 16(a)
    		 1 → many
    		 2R(20673037-20674932)


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

    Paralogs
    for IKBKG gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IKBKG gene
    OPTN2  

    IKBKG for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for IKBKG
    PGOHUM00000241614 PGOHUM00000241615


    Genomic Variants
    for IKBKG gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/76 NCBI SNPs in IKBKG are shown (see all 76)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1793638661,2
    		Cpathogenic153786864(+) AGGGTC/GGGTGA 8 R G mis10--------
    rs1378533261,2
    		Cpathogenic153792666(+) GGAGTA/G/TCATTG 12 Y C F mis10--------
    rs1486959641,2
    		C,Funtested153780386(+) TGGAGG/AAGAAT 8 /K /E mis11Minor allele frequency- A:0.00NA 4398
    rs1898754861,2
    		--153777811(+) TTTCAA/GTAACA 4 -- int10--------
    rs1824069871,2
    		--153778115(+) ATAGCA/GTGTGG 4 -- int10--------
    rs1845416221,2
    		--153778327(+) ACAGGA/GCTCTG 4 -- int10--------
    rs1892771051,2
    		--153778385(+) TTGCTC/TAGTGT 4 -- int10--------
    rs611204571,2
    		C,--153778492(+) GTGTGA/TGAGAG 4 -- int10--------
    rs1810114471,2
    		--153778494(+) GTGTGA/TGAGAG 4 -- int10--------
    rs1849875351,2
    		--153778618(+) AGGTTC/TGTTTT 4 -- int10--------

    HapMap Linkage Disequilibrium report for IKBKG (153769414 - 153796782 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for IKBKG
         2 CNVs: 74086 74087
    Human Gene Mutation Database (HGMD): IKBKG

    Locus Specific Mutation Databases (LSDB): IKBKG

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    Disorders / Diseases
    for IKBKG gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    IKBKG for disorders           About GeneDecksing

    OMIM gene information: 300248   
    OMIM disorders: 308300  300291  300301  300584  300636  300640  
    UniProtKB/Swiss-Prot: NEMO_HUMAN, Q9Y6K9
  • Defects in IKBKG are the cause of ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID)
    • [MIM:300291]; also known as hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID). Is 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
  • Defects in IKBKG are the cause of ectodermal dysplasia anhidrotic with
    • immunodeficiency-osteopetrosis-lymphedema (OLEDAID) [MIM:300301]
  • Defects in IKBKG are a cause of immunodeficiency NEMO-related without anhidrotic ectodermal dysplasia (NEMOID)
    • [MIM:300584]; also called immunodeficiency without anhidrotic ectodermal dysplasia, isolated immunodeficiency or pure
    immunodeficiency. Patients manifest immunodeficiency not associated with other abnormalities, and resulting in
    increased infection susceptibility. Patients suffer from multiple episodes of infectious diseases
  • Defects in IKBKG are the cause of susceptibility to X-linked familial atypical micobacteriosis type 1 (AMCBX1)
    • [MIM:300636]; also known as X-linked disseminated atypical mycobacterial infection type 1 or X-linked susceptibility
    to mycobacterial disease type 1. AMCBX1 is the X-linked recessive form of Mendelian susceptibility to mycobacterial
    disease (MSMD). MSMD is a congenital syndrome resulting in predisposition to clinical disease caused by weakly
    virulent mycobacterial species, such as bacillus Calmette-Guerin vaccines and non-tuberculous, environmental
    mycobacteria. Patients are also susceptible to the more virulent species Mycobacterium tuberculosis
  • Defects in IKBKG are the cause of recurrent isolated invasive pneumococcal disease type 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
  • Defects in IKBKG are the cause of incontinentia pigmenti (IP) [MIM:308300]; formerly designed familial
    • incontinentia pigmenti type II (IP2). IP is 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

    20/63 diseases for IKBKG (see all 63):    About MalaCards
    hypohidrotic ectodermal dysplasia    ectodermal dysplasia    invasive pneumococcal disease, recurrent isolated, 2    ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency
    incontinentia pigmenti achromians    bloch-sulzberger syndrome    atypical mycobacteriosis, familial    immunodeficiency without anhidrotic ectodermal dysplasia
    immunodeficiency    focal dermal hypoplasia    human t-cell leukemia virus type 1    exudative vitreoretinopathy
    epidermal nevus    lymphedema    bcg infection    anodontia
    mycobacterial infection    congenital syphilis    coats disease    osteopetrosis

    9 diseases from the University of Copenhagen DISEASES database for IKBKG:
    Skin disease     Focal dermal hypoplasia     Hypohidrotic ectodermal dysplasia     Retinal detachment
    Alopecia     Retinopathy of prematurity     Coats disease     Exudative vitreoretinopathy
    Microphthalmia

    10/16 Novoseek disease relationships for IKBKG gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    incontinentia pigmenti 95.4 45 20434027 (5), 18841575 (2), 15833158 (2), 16399796 (2) (see all 30)
    ectodermal dysplasia, hypohidrotic 85.3 14 16379012 (2), 12651765 (1), 16228229 (1), 18313693 (1) (see all 11)
    ectodermal dysplasia 80.8 10 16794254 (2), 14764716 (1), 18350553 (1), 20133626 (1) (see all 8)
    leukemia t-cell 67.8 5 12435599 (2), 10364167 (1), 16611882 (1), 10438454 (1)
    necrosis 50.8 19 17000764 (2), 12867425 (2), 12244103 (1), 17047224 (1) (see all 12)
    hyperpigmentation 43.8 1 20434027 (1)
    immunodeficiency 38.3 28 15577852 (4), 16228229 (2), 12657630 (2), 16333836 (2) (see all 16)
    osteopetrosis 32 2 11242109 (1), 12351572 (1)
    tumors 31.8 18 17000764 (2), 12867425 (2), 12244103 (1), 17047224 (1) (see all 11)
    skin lesion 31.5 2 16399796 (2)

    GeneTests: IKBKG
    Incontinentia Pigmenti

    Human Genome Epidemiology (HuGE) Navigator: IKBKG (6 documents)

    Export disorders for IKBKG gene to outside databases

    Publications
    for IKBKG gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IKBKG gene, integrated from 9 sources (see all 411):
    (articles sorted by number of sources associating them with IKBKG)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (PubMed id 11590134)1, 2, 3, 9 Aradhya S.... Nelson D.L. (2001)
    2. Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28. (PubMed id 10087442)1, 2, 3 Jin D.Y. and Jeang K.T. (1999)
    3. IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex. (PubMed id 9751060)1, 2, 3 Rothwarf D.M.... Karin M. (1998)
    4. Tetrameric oligomerization of IkappaB kinase gamma (IKKgamma) is obligatory for IKK complex activity and NF-kappaB activation. (PubMed id 12612076)1, 2, 9 Tegethoff S....Scheidereit C. (2003)
    5. Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected] (PubMed id 16547522)1, 2, 9 Wu C.J....Ashwell J.D. (2006)
    6. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). (PubMed id 11047757)1, 2, 9 Zonana J.... Ferguson B.M. (2000)
    7. Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation. (PubMed id 18313693)1, 2, 9 Cordier F.... Agou F. (2008)
    8. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling. (PubMed id 11242109)1, 2, 9 Doeffinger R.... Casanova J.-L. (2001)
    9. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. (PubMed id 15229184)1, 2, 9 Fusco F.... Ursini M.V. (2004)
    10. In vivo identification of inducible phosphoacceptors in the IKKgamma/NEMO subunit of human IkappaB kinase. (PubMed id 12657630)1, 2, 9 Carter R.S.... Ballard D.W. (2003)

    External Searches for IKBKG gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IKBKG gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8517 HGNC: 5961 AceView: IKBKG Ensembl:ENSG00000073009 euGenes: HUgn8517
    ECgene: IKBKG Kegg: 8517 H-InvDB: IKBKG

    Other Databases showing IKBKG gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IKBKG gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IKBKG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IKBKG Genetics and Cytogenetics in Oncology and Haematology
    IKBKGbasehttp://bioinf.uta.fi/IKBKGbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IKBKG

    Intellectual Property
    for IKBKG gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for IKBKG gene:
    Search GeneIP for patents involving IKBKG

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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