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IKBKG Gene

protein-coding   GIFtS: 68

GC0XP153423
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
(Previous name: incontinentia pigmenti )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: IP2, IP1)
Services    

Aliases &
Descriptions
for IKBKG

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
AMCBX1 2, 5
FIP-3 1, 2, 3
FIP3 1, 2, 3, 5
Fip3p 1, 2
IKK-gamma 1, 2, 3
IKKAP1 3
IKKG 3
IP 2
IP1 2
IP2 2, 5
IPD2 2, 5
NEMO 1, 2, 3, 5
OTTHUMP00000026027 2
OTTHUMP00000026028 2
OTTHUMP00000026029 2
Descriptions
I-kappa-B kinase gamma 3
IkB kinase gamma subunit 2
IkB kinase subunit gamma 3
IkB kinase-associated protein 1 3
Inhibitor of nuclear factor kappa-B kinase subunit gamma 3
NF-kappa-B essential modifier 3
NFkappaB essential modulator 2
incontinentia pigmenti 1, 2
inhibitor of kappa light polypeptide gene enhancer in
B-cells, kinase gamma 2
External Ids
HGNC: 59611
Entrez Gene: 85172
UniProtKB: Q9Y6K93
Ensembl: ENSG000000730097
Search outside databases for aliases for IKBKG gene

Previous GC identifers: GC0XM147930 GC0XP150151 GC0XP151354 GC0XP152238 GC0XP152243 GC0XP153334

Summaries
for IKBKG

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene 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. [supplied by RefSeq]

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. 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)

Gene Wiki entry for IKBKG

Genomic Location
for IKBKG

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the IKBKG gene  

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)

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153423:     (about GC identifiers)

Start:
 153,423,653 bp from pter
End:
 153,448,998 bp from pter
Size:
 25,346 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000023.9  NT_011726.13  

Proteins
for IKBKG

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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. 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
Subcellular location: Cytoplasm. Nucleus
PDB structures from and Proteopedia :
2JVX (3D)    2JVY (3D)    3BRT (3D)    3BRV (3D)    3CL3 (3D)    3FX0 (3D)    

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 pathway1
  • 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 pathway1
  • Sumoylated on Lys-277 and Lys-309 by SUMO1; the modification results in phosphorylation of Ser-85
    by ATM leading to a replacement of the sumoylation by mono-ubiquitination on these residues1
  • Mono-ubiquitinated on Lys-277 and Lys-309; promotes nuclear export1
  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000358622 ENSP00000358614 ENSP00000358619 ENSP00000358620 ENSP00000263518 ENSP00000377180 
    ENSP00000358615 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (IKK gamma)
    Human Recombinant Proteins from Abnova (IKBKG)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005829 cytosol EXP9744859 10723127
    GO:0008385colocalizes with IkappaB kinase complex TAS16831874
    About this table

    Antibodies for IKBKG: 
    Invitrogen Antibodies for IKBKG
    Millipore Mono- and Polyclonal Antibodies for the study of IKBKG
    Sigma-Aldrich Antibodies for IKBKG
    R&D Systems Antibodies for IKBKG (IKK gamma)
    Cell Signaling Technology (CST) Antibodies for IKBKG  (IKKg)
    Antibodies from Abcam (IKK gamma), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (IKBKG)
    Novus Biologicals Antibodies for IKBKG

    Assays for IKBKG: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of IKBKG
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for IKBKG

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

    ProtoNet protein and cluster: Q9Y6K9

    UniProtKB/Swiss-Prot: NEMO_HUMAN, Q9Y6K9
    Similarity: Contains 1 C2HC-type zinc finger

    Gene Function
    for IKBKG

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (IKBKG)
    Millipore RNAi Products for the Analysis of IKBKG Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (IKBKG)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_003639

                  Applied Biosystems Silencer® siRNAs for IKBKG

                  Sigma-Aldrich siRNA for IKBKG  
                         Sigma-Aldrich shRNA Panels and shRNA for IKBKG  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for IKBKG
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001099856
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001099856
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_001099856 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001099856

    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. 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)

    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

    14 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ikbkg):

    adipose tissuebehavior/neurologicalcellulargrowth/sizehematopoietic system
    homeostasis/metabolismimmune systemlethality-postnatallethality-prenatal/perinatalliver/biliary system
    pigmentationreproductive systemskin/coat/nailstumorigenesis

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871 signal transducer activity TAS9927690
    GO:0005515 protein binding IPI11113112
    GO:0008270 zinc ion binding IEA--
    GO:0046872 metal ion binding IEA--
    About this table

    Pathways & Interactions
    for IKBKG

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/19 Invitrogen iPath™ Online BioAtlas - Pathways for IKBKG (see all 19 ) (Maps provided by GeneGo):
     Angiopoietin - Tie2 signaling
     Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
     NGF activation of NF-kB
     TCR and CD28 co-stimulation in activation of NF-kB
     VEGF signaling via VEGFR2 - generic cascades

       GeneDecks  IKBKG for the pathways selected above  
    About GeneDecksing

    5/17 Millipore Pathways for IKBKG (see all 17 )
     Development VEGF signaling and activation
      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

       GeneDecks  IKBKG for the pathways selected above  
    About GeneDecksing

    5/38 Sigma-Aldrich "Your Favorite Gene" Pathways for  IKBKG  (Your Favorite Gene powered by Ingenuity) (see all 38 ) 
     Apoptosis Signaling
     B Cell Activating Factor Signaling
     CD40 Signaling
     PTEN Signaling
     Hepatic Cholestasis

       GeneDecks  IKBKG for the pathways selected above  
    About GeneDecksing

    1 Cell Signaling Technology (CST) Pathway for IKBKG: 
     T Cell Receptor Signaling

       GeneDecks  IKBKG for the pathways selected above  
    About GeneDecksing

    5/14 Kegg Pathways  (Kegg details for IKBKG) (see all 14 ):
     hsa04010 MAPK signaling pathway
     hsa04210 Apoptosis
     hsa04620 Toll-like receptor signaling pathway
     hsa04660 T cell receptor signaling pathway
     hsa04662 B cell receptor signaling pathway

       GeneDecks  IKBKG for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  IKBKG 


    5/298 Interacting proteins for IKBKG (Q9Y6K91, 2 ENSP000003586223) via UniProtKB, MINT, and/or STRING (see all 298 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP629882, ENSP000003448183MINT-4787758 MINT-4787643 MINT-48219 MINT-2844364 STRING (score=.999)
    NFKB1P198382, ENSP000002265743MINT-47888 MINT-47907 MINT-48638 MINT-48529 STRING (score=.995)
    NFKB2Q006532, ENSP000003370013MINT-48565 MINT-47922 MINT-48692 MINT-47900 STRING (score=.994)
    MALT1Q9UDY82, ENSP000003192793MINT-6177604 MINT-6177554 STRING (score=.998)
    MAP3K14Q995582, ENSP000003420593MINT-48001 MINT-48784 STRING (score=.992)
    About this table

    5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006350 transcription IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0006917 induction of apoptosis TAS9927690
    GO:0006955 immune response TAS9751060
    GO:0007249 I-kappaB kinase/NF-kappaB cascade TAS9927690
    About this table

    Drugs & Compounds
    for IKBKG

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for IKBKG
    Sigma-Aldrich Small Molecules for IKBKG:
    Antagonist

    Compounds for IKBKG available from Tocris Bioscience
    7 Novoseek chemical compound relationships for IKBKG gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 41.05 26 14764716 (4), 18313693 (2), 16794254 (2), 18207244 (2) (see all 12)
    leucine 29.33 7 15107419 (1), 18080803 (1), 10906125 (1), 11080796 (1)
    cytidine 21.03 2 14610488 (1)
    glucose 3.54 1 16754954 (1)
    calcium 2.88 4 17074802 (2)
    lipid 0.00 12 19129196 (1), 12496421 (1)
    tyrosine 0.00 1 16379012 (1)
    About this table


    Transcripts
    for IKBKG

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (IKBKG)
    Millipore RNAi Products for the Analysis of IKBKG Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (IKBKG)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_003639

                  Sigma-Aldrich siRNA for IKBKG  
                         Sigma-Aldrich shRNA Panels and shRNA for IKBKG  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001099856  NM_001099857  NM_003639  

    REFSEQ mRNAs for IKBKG gene (4 alternative transcripts): 

    NM_001099856.2   NM_001099857.1   NM_001145255.1   NM_003639.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001099856  NM_001099857  NM_003639  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001099856
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001099856
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_001099856 

    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 CR600010.1 
    CR603029.1 CR604149.1 CR612085.1 

    21 DOTS entries:

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

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

    AY429547 AF091453 BQ944161 CR600010 CR612085 AW338712 AF261086 CD366604 
    AA973325 BC012114 BM781517 BI763821 BM759242 AW007016 AK000593 BE349377 
    BI757301 BM757929 BI770383 BU633401 AY429548 BQ932422 BE391247 AW827142 

    highest scoring ESTs for IKBKG:

    AF074382 AF062089 AF091453 AF261086 AK000593 AY114157 BC000299 BC012114 BC046922 BC050612 

    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


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for IKBKG

    7 Ensembl transcripts including schematic representations:
    ENST00000369609  ENST00000369601  ENST00000369606  ENST00000369607  ENST00000263518  ENST00000393549  
    ENST00000369602  

    Expression
    for IKBKG

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    IKBKG expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for IKBKG

    1 / 2 / 3

    5 probe-sets matching IKBKG gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		36004_at2, 3 U133-A 1 1.00 1.00 1.00 1.00 AF074382 1.00 1.00 1.00 1

    		36004_at2, 3 U133-A 1 1.00 1.00 -- -- AF074382 1.00 1.00 1.00 1

    		209929_s_at2, 3 U133-A 2 1.00 0.95 -- -- AF091453 0.80 1.00 0.91 1

    		36004_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		209929_s_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CTATTCCATT

    SOURCE GeneReport for Unigene cluster: Hs.43505

    Expression variation in blood from EXPOLDB for IKBKG

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

    Orthologs
    for IKBKG

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for IKBKG gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    chimpanzee
    (Pan troglodytes)    		 IKBKG1   -- inhibitor of kappa light polypeptide gene enhancer more 99.53(n)
    99.44(a)    		 743415  XM_001147259.1  XP_001147259.1 
    cow
    (Bos taurus)    		 IKBKG1   -- inhibitor of kappa light polypeptide gene enhancer more 86.71(n)
    85.68(a)    		 281855  NM_174354.2  NP_776779.1 
    rat
    (Rattus norvegicus)    		 Ikbkg1   -- inhibitor of kappaB kinase gamma 84.47(n)
    88.83(a)    		 309295  NM_199103.1  NP_954534.1 
    mouse
    (Mus musculus)    		 Ikbkg1, 5 X5
    		 inhibitor of kappaB kinase gamma1, 5 84.67(n)1
    88.08(a)1    		 161511  NM_178590.31  NP_848705.11 
     AF0695425  AF3262075  (see all 31)
    zebrafish
    (Danio rerio)    		 ikbkg1   -- inhibitor of kappa light polypeptide gene enhancer more 53.28(n)
    46.91(a)    		 541530  NM_001014344.1  NP_001014366.1 
    About this table        Species with no ortholog for IKBKG

    ENSEMBL Gene Tree for IKBKG

    Paralogs
    for IKBKG

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for IKBKG gene
    OPTN2  

    SNPs/Variants
    for IKBKG

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    9 NCBI SNPs in IKBKG are shown
    (Click for Applied Biosystems TaqMan ® Genotyping Assay) (only AB snps)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs42567461,2
    		H153431823(+) gagaaG/Agctac 3 -- int14Minor allele frequency- A:0.00EU EA WA 418
    rs66436801,2
    		H153435070(+) ttgtaC/Tgttgt 3 -- int14Minor allele frequency- T:0.00EU EA WA 418
    --
    rs571746461,2
    		--153433418(+) TGAATA/CGGCAC 3 R/R syn10--------
    --
    rs611204571,2
    		--153431686(+) GTGTGA/TGAGAG 3 -- int10--------
    --
    rs736411051,2
    		--153433133(+) AGTCTC/TGTCCC 3 -- int10--------
    --
    rs559057991,2
    		--153432538(+) TTTTT-/TAGTAG 3 -- int10--------
    --
    rs345857011,2
    		--153431149(+) TCCCC-/CTCAGC 3 -- int10--------
    --
    rs59869931,2
    		--153434561(+) CCTAAA/GTGTCC 3 -- int10--------
    --
    rs128612911,2
    		--153432048(+) agccaC/Gcaaga 3 -- int10--------
    About this table
    The following additional 9 SNP(s) have been found in Applied Biosystems data source:
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)


     rs56262786 rs2472393 rs1050827 rs3021074 rs5986992 rs5986991 rs2515910
     rs11797720 rs2472394

    HapMap Linkage Disequilibrium images for IKBKG (up to first 250kb)

    Disorders & Mutations
    for IKBKG

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 300248   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 (EDAXID) [MIM:300291]; also known as hypohidrotic ectodermal dysplasia with
    immunodeficiency (HED-ID). Ectodermal dysplasia defines a heterogeneous group of disorders due to
    abnormal development of two or more ectodermal structures. EDAXID is 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 without anhidrotic ectodermal dysplasia
    [MIM:300584]; also called 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

    • 10/15 Novoseek disease relationships for IKBKG gene (see all 15 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    incontinentia pigmenti 95.24 38 18841575 (2), 15833158 (2), 16647846 (2), 16399796 (2) (see all 27)
    ectodermal dysplasia, hypohidrotic 86.35 14 16379012 (2), 12651765 (1), 16228229 (1), 18313693 (1) (see all 11)
    ectodermal dysplasia 79.85 8 16794254 (2), 14764716 (1), 18350553 (1), 18347290 (1) (see all 6)
    leukemia t-cell 68.93 5 12435599 (2), 10364167 (1), 16611882 (1), 10438454 (1)
    necrosis 51.53 19 17000764 (2), 12867425 (2), 12244103 (1), 17047224 (1) (see all 12)
    immunodeficiency 38.66 27 15577852 (4), 16228229 (2), 12657630 (2), 16333836 (2) (see all 15)
    osteopetrosis 33.90 2 11242109 (1), 12351572 (1)
    skin lesion 33.77 2 16399796 (2)
    tumors 31.63 18 17000764 (2), 12867425 (2), 12244103 (1), 17047224 (1) (see all 11)
    lymphedema 29.71 3 11242109 (1), 16379592 (1), 12351572 (1)
    About this table

    GeneTests: IKBKG
    Incontinentia Pigmenti

    Human Gene Mutation Database: IKBKG

    Medical News
    for IKBKG

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for IKBKG

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

    		66/243 PubMed articles for IKBKG gene (see all 243 ):

    Search for IKBKG

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
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      Query String
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    Genome Databases showing IKBKG

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

    Other Databases showing IKBKG

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing IKBKG

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for IKBKG Genetics and Cytogenetics in Oncology and Haematology
    IKBKGbasehttp://bioinf.uta.fi/IKBKGbase/
    GeneReviewshttp://www.genetests.org/query?gene=IKBKG

    Licensable Technologies
    for IKBKG

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for IKBKG

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for IKBKG:
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