Atlas of Genetics and Cytogenetics in Oncology and Haematology

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IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta)

Identity

Alias_namesinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
Alias_symbol (synonym)IKK2
NFKBIKB
IKK-beta
IKKB
Other aliasIMD15
IMD15A
IMD15B
HGNC (Hugo) IKBKB
LocusID (NCBI) 3551
Atlas_Id 43314
Location 8p11.21  [Link to chromosome band 8p11]
Location_base_pair Starts at 42271302 and ends at 42332459 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HOOK3 (8p11.21) / IKBKB (8p11.21)IKBKB (8p11.21) / ANK1 (8p11.21)IKBKB (8p11.21) / DLD (7q31.1)
IKBKB (8p11.21) / FADD (11q13.3)IKBKB (8p11.21) / IKBKB (8p11.21)IKBKB (8p11.21) / STRN4 (19q13.32)
IKBKB (8p11.21) / UNC5D (8p12)KAT6A (8p11.21) / IKBKB (8p11.21)PER1 (17p13.1) / IKBKB (8p11.21)
TNPO1 (5q13.2) / IKBKB (8p11.21)TRAPPC9 (8q24.3) / IKBKB (8p11.21)HOOK3 8p11.21 / IKBKB 8p11.21
IKBKB 8p11.21 / ANK1 8p11.21IKBKB 8p11.21 / FADD 11q13.3IKBKB 8p11.21 / UNC5D 8p12
KAT6A 8p11.21 / IKBKB 8p11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Classical Hodgkin lymphoma
Hodgkin lymphoma

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(5;8)(q13;p11) TNPO1/IKBKB
HOOK3/IKBKB (8p11)
IKBKB/ANK1 (8p11)
KAT6A/IKBKB (8p11)
t(8;8)(p11;p12) IKBKB/UNC5D
t(8;11)(p11;q13) IKBKB/FADD

External links

Nomenclature
HGNC (Hugo)IKBKB   5960
Cards
Entrez_Gene (NCBI)IKBKB  3551  inhibitor of nuclear factor kappa B kinase subunit beta
AliasesIKK-beta; IKK2; IKKB; IMD15; 
IMD15A; IMD15B; NFKBIKB
GeneCards (Weizmann)IKBKB
Ensembl hg19 (Hinxton)ENSG00000104365 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104365 [Gene_View]  ENSG00000104365 [Sequence]  chr8:42271302-42332459 [Contig_View]  IKBKB [Vega]
ICGC DataPortalENSG00000104365
TCGA cBioPortalIKBKB
AceView (NCBI)IKBKB
Genatlas (Paris)IKBKB
WikiGenes3551
SOURCE (Princeton)IKBKB
Genetics Home Reference (NIH)IKBKB
Genomic and cartography
GoldenPath hg38 (UCSC)IKBKB  -     chr8:42271302-42332459 +  8p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IKBKB  -     8p11.21   [Description]    (hg19-Feb_2009)
GoldenPathIKBKB - 8p11.21 [CytoView hg19]  IKBKB - 8p11.21 [CytoView hg38]
Genome Data Viewer NCBIIKBKB [Mapview hg19]  
OMIM603258   615592   618204   
Gene and transcription
Genbank (Entrez)AB209090 AF029684 AF031416 AF080158 AI379342
RefSeq transcript (Entrez)NM_001190720 NM_001190721 NM_001190722 NM_001242778 NM_001556
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IKBKB
Alternative Splicing GalleryENSG00000104365
Gene ExpressionIKBKB [ NCBI-GEO ]   IKBKB [ EBI - ARRAY_EXPRESS ]   IKBKB [ SEEK ]   IKBKB [ MEM ]
Gene Expression Viewer (FireBrowse)IKBKB [ Firebrowse - Broad ]
GenevisibleExpression of IKBKB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3551
GTEX Portal (Tissue expression)IKBKB
Human Protein AtlasENSG00000104365-IKBKB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14920   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14920  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14920
Splice isoforms : SwissVarO14920
Catalytic activity : Enzyme2.7.11.10 [ Enzyme-Expasy ]   2.7.11.102.7.11.10 [ IntEnz-EBI ]   2.7.11.10 [ BRENDA ]   2.7.11.10 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusO14920
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)IKBKB_SDD    IKKbetaNEMObind    Kinase-like_dom_sf    Prot_kinase_dom    Ser/Thr_kinase_AS    Ubiquitin-like_dom    Ubiquitin-like_domsf   
Domain families : Pfam (Sanger)IKBKB_SDD (PF18397)    IKKbetaNEMObind (PF12179)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam18397    pfam12179    pfam00069   
Domain families : Smart (EMBL)IKKbetaNEMObind (SM01239)  S_TKc (SM00220)  
Conserved Domain (NCBI)IKBKB
DMDM Disease mutations3551
PDB (RSDB)3BRT    3BRV    4E3C    4KIK   
PDB Europe3BRT    3BRV    4E3C    4KIK   
PDB (PDBSum)3BRT    3BRV    4E3C    4KIK   
PDB (IMB)3BRT    3BRV    4E3C    4KIK   
Structural Biology KnowledgeBase3BRT    3BRV    4E3C    4KIK   
SCOP (Structural Classification of Proteins)3BRT    3BRV    4E3C    4KIK   
CATH (Classification of proteins structures)3BRT    3BRV    4E3C    4KIK   
SuperfamilyO14920
Human Protein Atlas [tissue]ENSG00000104365-IKBKB [tissue]
Peptide AtlasO14920
HPRD04462
IPIIPI00024709   IPI01010552   IPI00798101   IPI00981929   IPI00982033   IPI00656051   IPI00556516   IPI00789633   IPI00974092   IPI01010030   IPI00796308   IPI00973993   IPI00977664   IPI00974077   IPI01022343   
Protein Interaction databases
DIP (DOE-UCLA)O14920
IntAct (EBI)O14920
FunCoupENSG00000104365
BioGRIDIKBKB
STRING (EMBL)IKBKB
ZODIACIKBKB
Ontologies - Pathways
QuickGOO14920
Ontology : AmiGOstimulatory C-type lectin receptor signaling pathway  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  MyD88-independent toll-like receptor signaling pathway  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  cytoplasm  cytosol  cytosol  protein phosphorylation  protein phosphorylation  inflammatory response  I-kappaB kinase/NF-kappaB signaling  I-kappaB kinase/NF-kappaB signaling  I-kappaB phosphorylation  IkappaB kinase activity  IkappaB kinase activity  IkappaB kinase complex  IkappaB kinase complex  response to virus  cytoplasmic side of plasma membrane  regulation of tumor necrosis factor-mediated signaling pathway  viral process  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  protein kinase binding  cortical actin cytoskeleton organization  tumor necrosis factor-mediated signaling pathway  tumor necrosis factor-mediated signaling pathway  negative regulation of myosin-light-chain-phosphatase activity  CD40 receptor complex  TRIF-dependent toll-like receptor signaling pathway  Fc-epsilon receptor signaling pathway  regulation of phosphorylation  identical protein binding  protein homodimerization activity  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  membrane raft  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  stress-activated MAPK cascade  interleukin-1-mediated signaling pathway  interleukin-1-mediated signaling pathway  cellular response to tumor necrosis factor  protein localization to plasma membrane  scaffold protein binding  regulation of establishment of endothelial barrier  negative regulation of bicellular tight junction assembly  transferrin receptor binding  
Ontology : EGO-EBIstimulatory C-type lectin receptor signaling pathway  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  MyD88-independent toll-like receptor signaling pathway  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  cytoplasm  cytosol  cytosol  protein phosphorylation  protein phosphorylation  inflammatory response  I-kappaB kinase/NF-kappaB signaling  I-kappaB kinase/NF-kappaB signaling  I-kappaB phosphorylation  IkappaB kinase activity  IkappaB kinase activity  IkappaB kinase complex  IkappaB kinase complex  response to virus  cytoplasmic side of plasma membrane  regulation of tumor necrosis factor-mediated signaling pathway  viral process  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  protein kinase binding  cortical actin cytoskeleton organization  tumor necrosis factor-mediated signaling pathway  tumor necrosis factor-mediated signaling pathway  negative regulation of myosin-light-chain-phosphatase activity  CD40 receptor complex  TRIF-dependent toll-like receptor signaling pathway  Fc-epsilon receptor signaling pathway  regulation of phosphorylation  identical protein binding  protein homodimerization activity  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  membrane raft  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  stress-activated MAPK cascade  interleukin-1-mediated signaling pathway  interleukin-1-mediated signaling pathway  cellular response to tumor necrosis factor  protein localization to plasma membrane  scaffold protein binding  regulation of establishment of endothelial barrier  negative regulation of bicellular tight junction assembly  transferrin receptor binding  
Pathways : KEGGMAPK signaling pathway    Ras signaling pathway    Chemokine signaling pathway    NF-kappa B signaling pathway    FoxO signaling pathway    mTOR signaling pathway    PI3K-Akt signaling pathway    Apoptosis    Osteoclast differentiation    Toll-like receptor signaling pathway    NOD-like receptor signaling pathway    RIG-I-like receptor signaling pathway    Cytosolic DNA-sensing pathway    T cell receptor signaling pathway    B cell receptor signaling pathway    TNF signaling pathway    Neurotrophin signaling pathway    Insulin signaling pathway    Adipocytokine signaling pathway    Type II diabetes mellitus    Non-alcoholic fatty liver disease (NAFLD)    Epithelial cell signaling in Helicobacter pylori infection    Shigellosis    Chagas disease (American trypanosomiasis)    Toxoplasmosis    Hepatitis C    Hepatitis B    Influenza A    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Pathways in cancer    MicroRNAs in cancer    Pancreatic cancer    Prostate cancer    Chronic myeloid leukemia    Acute myeloid leukemia    Small cell lung cancer   
NDEx NetworkIKBKB
Atlas of Cancer Signalling NetworkIKBKB
Wikipedia pathwaysIKBKB
Orthology - Evolution
OrthoDB3551
GeneTree (enSembl)ENSG00000104365
Phylogenetic Trees/Animal Genes : TreeFamIKBKB
HOGENOMO14920
Homologs : HomoloGeneIKBKB
Homology/Alignments : Family Browser (UCSC)IKBKB
Gene fusions - Rearrangements
Fusion : MitelmanHOOK3/IKBKB [8p11.21/8p11.21]  
Fusion : MitelmanIKBKB/ANK1 [8p11.21/8p11.21]  
Fusion : MitelmanIKBKB/FADD [8p11.21/11q13.3]  
Fusion : MitelmanIKBKB/UNC5D [8p11.21/8p12]  
Fusion : MitelmanKAT6A/IKBKB [8p11.21/8p11.21]  
Fusion : MitelmanTNPO1/IKBKB [5q13.2/8p11.21]  
Fusion PortalHOOK3 8p11.21 IKBKB 8p11.21 BRCA
Fusion PortalIKBKB 8p11.21 ANK1 8p11.21 BRCA
Fusion PortalIKBKB 8p11.21 FADD 11q13.3 BRCA
Fusion PortalIKBKB 8p11.21 UNC5D 8p12 BLCA
Fusion PortalKAT6A 8p11.21 IKBKB 8p11.21 BRCA
Fusion : QuiverIKBKB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIKBKB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IKBKB
dbVarIKBKB
ClinVarIKBKB
1000_GenomesIKBKB 
Exome Variant ServerIKBKB
GNOMAD BrowserENSG00000104365
Varsome BrowserIKBKB
Genetic variants : HAPMAP3551
Genomic Variants (DGV)IKBKB [DGVbeta]
DECIPHERIKBKB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIKBKB 
Mutations
ICGC Data PortalIKBKB 
TCGA Data PortalIKBKB 
Broad Tumor PortalIKBKB
OASIS PortalIKBKB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIKBKB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DIKBKB
Mutations and Diseases : HGMDIKBKB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutaselect IKBKB
DgiDB (Drug Gene Interaction Database)IKBKB
DoCM (Curated mutations)IKBKB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IKBKB (select a term)
intoGenIKBKB
Cancer3DIKBKB (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603258    615592    618204   
Orphanet22702   
DisGeNETIKBKB
MedgenIKBKB
Genetic Testing Registry IKBKB
NextProtO14920 [Medical]
TSGene3551
GENETestsIKBKB
Open Targets GeneticsENSG00000104365  [validation]
snp3D : Map Gene to Disease3551
BioCentury BCIQIKBKB
ClinGenIKBKB
Clinical trials, drugs, therapy
Protein Interactions : CTD3551
Pharm GKB GenePA29776
Clinical trialIKBKB
Miscellaneous
canSAR (ICR)IKBKB (select the gene name)
HarmonizomeIKBKB
DataMed IndexIKBKB
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIKBKB
EVEXIKBKB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 19:53:14 CEST 2020
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