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Description for Protein IKBKG

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
183 total interacting proteins; 69 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • LZ: Leucine Zipper
  • ZNFC2: zinc finger
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07210
    KEGG - Pathway(s):
    hsa04010; hsa04062; hsa04210; hsa04620; hsa04621; hsa04622; hsa04623; hsa04660; hsa04662; hsa04920; hsa05120; hsa05131; hsa05142; hsa05200; hsa05212; hsa05215; hsa05220; hsa05221; hsa05222; hsa05340
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    NF kappa B essential modulator; NEMO; FIP3; NF-kappaB essential modifier; Inhibitor of nuclear factor kappa-B kinase gamma subunit; I-kappa-B kinase gamma; IKK-gamma; IKKG; IkB kinase associated protein 1; IKKAP1; IP; IP1; IP2; IPD2; Fip3p; AMCBX1; Incontinentia pigmenti; IkB kinase subunit gamma
    Approved Symbol:
    IKBKG
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 22
    Human (de-) phosphorylation sites: 22; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 1
    Human phosphorylation targets: 1; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Ectodermal dysplasia, anhidrotic, with immune deficiency(Pd);
  • Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema(Pd);
  • Ectodermal dysplasia, hypohidrotic, with immune deficiency(Pd);
  • Hyper-IgM immunodeficiency, X-linked, with ectodermal dysplasia, hypohidrotic(Pd);
  • Immunodeficiency, isolated(Pd);
  • Incontinentia pigmenti, type II(Pd);
  • Incontinentia pigmenti, type II, atypical(Pd);
  • Invasive pneumococcal disease, recurrent isolated, 2(Pd);
  • Mycobacterial disease, susceptibility to, X-linked, 1(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02217 Entrez Gene ID: 8517 OMIM ID: 300248 Swissprot Accession: A6NG82; Q9Y6K9; Q7LBY6;