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NFKBIA (NFKB inhibitor alpha)

Identity

Alias (NCBI)EDAID2
IKBA
MAD-3
NFKBI
HGNC (Hugo) NFKBIA
HGNC Alias symbIKBA
MAD-3
IkappaBalpha
HGNC Alias nameNF-kappa-B inhibitor alpha
HGNC Previous nameNFKBI
HGNC Previous namenuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
LocusID (NCBI) 4792
Atlas_Id 41530
Location 14q13.2  [Link to chromosome band 14q13]
Location_base_pair Starts at 35401514 and ends at 35404749 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)
NFKBIA (14q13.2) / NFKBIA (14q13.2)NFKBIA (14q13.2) / RFC5 (12q24.23)PPP2R3C (14q13.2) / NFKBIA (14q13.2)
TCF3 (19p13.3) / NFKBIA (14q13.2)PPP2R3C 14q13.2 / NFKBIA 14q13.2

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) [ 5 ]
  Classical Hodgkin lymphoma
Follicular Dendritic Cell Sarcoma
Hodgkin lymphoma
t(8;17)(q24;q22) ???BCL3/MYC
t(14;19)(q32;q13) IGH/Various Partners

External links

 

Nomenclature
HGNC (Hugo)NFKBIA   7797
LRG (Locus Reference Genomic)LRG_89
Cards
Entrez_Gene (NCBI)NFKBIA    NFKB inhibitor alpha
AliasesEDAID2; IKBA; MAD-3; NFKBI
GeneCards (Weizmann)NFKBIA
Ensembl hg19 (Hinxton)ENSG00000100906 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100906 [Gene_View]  ENSG00000100906 [Sequence]  chr14:35401514-35404749 [Contig_View]  NFKBIA [Vega]
ICGC DataPortalENSG00000100906
TCGA cBioPortalNFKBIA
AceView (NCBI)NFKBIA
Genatlas (Paris)NFKBIA
SOURCE (Princeton)NFKBIA
Genetics Home Reference (NIH)NFKBIA
Genomic and cartography
GoldenPath hg38 (UCSC)NFKBIA  -     chr14:35401514-35404749 -  14q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NFKBIA  -     14q13.2   [Description]    (hg19-Feb_2009)
GoldenPathNFKBIA - 14q13.2 [CytoView hg19]  NFKBIA - 14q13.2 [CytoView hg38]
ImmunoBaseENSG00000100906
Genome Data Viewer NCBINFKBIA [Mapview hg19]  
OMIM164008   612132   
Gene and transcription
Genbank (Entrez)AK311515 AK313421 AY033600 BC002601 BC004983
RefSeq transcript (Entrez)NM_020529
Consensus coding sequences : CCDS (NCBI)NFKBIA
Gene ExpressionNFKBIA [ NCBI-GEO ]   NFKBIA [ EBI - ARRAY_EXPRESS ]   NFKBIA [ SEEK ]   NFKBIA [ MEM ]
Gene Expression Viewer (FireBrowse)NFKBIA [ Firebrowse - Broad ]
GenevisibleExpression of NFKBIA in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4792
GTEX Portal (Tissue expression)NFKBIA
Human Protein AtlasENSG00000100906-NFKBIA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP25963   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP25963  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP25963
PhosPhoSitePlusP25963
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf   
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam00023    pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)NFKBIA
PDB (RSDB)1IKN    1NFI    6TTU    6Y1J   
PDB Europe1IKN    1NFI    6TTU    6Y1J   
PDB (PDBSum)1IKN    1NFI    6TTU    6Y1J   
PDB (IMB)1IKN    1NFI    6TTU    6Y1J   
Structural Biology KnowledgeBase1IKN    1NFI    6TTU    6Y1J   
SCOP (Structural Classification of Proteins)1IKN    1NFI    6TTU    6Y1J   
CATH (Classification of proteins structures)1IKN    1NFI    6TTU    6Y1J   
SuperfamilyP25963
AlphaFold pdb e-kbP25963   
Human Protein Atlas [tissue]ENSG00000100906-NFKBIA [tissue]
HPRD01235
Protein Interaction databases
DIP (DOE-UCLA)P25963
IntAct (EBI)P25963
BioGRIDNFKBIA
STRING (EMBL)NFKBIA
ZODIACNFKBIA
Ontologies - Pathways
QuickGOP25963
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  plasma membrane  protein import into nucleus  apoptotic process  I-kappaB kinase/NF-kappaB signaling  cytoplasmic sequestering of NF-kappaB  transcription factor binding  nuclear localization sequence binding  negative regulation of macrophage derived foam cell differentiation  positive regulation of cholesterol efflux  negative regulation of lipid storage  protein deubiquitination  enzyme binding  ubiquitin protein ligase binding  lipopolysaccharide-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  positive regulation of cellular protein metabolic process  response to muramyl dipeptide  tumor necrosis factor-mediated signaling pathway  I-kappaB/NF-kappaB complex  toll-like receptor 4 signaling pathway  response to muscle stretch  regulation of cell population proliferation  identical protein binding  cytoplasmic sequestering of transcription factor  negative regulation of apoptotic process  response to exogenous dsRNA  negative regulation of DNA binding  negative regulation of myeloid cell differentiation  negative regulation of Notch signaling pathway  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of inflammatory response  NF-kappaB binding  NF-kappaB binding  positive regulation of NF-kappaB transcription factor activity  cellular response to cold  nucleotide-binding oligomerization domain containing 1 signaling pathway  nucleotide-binding oligomerization domain containing 2 signaling pathway  interleukin-1-mediated signaling pathway  regulation of NIK/NF-kappaB signaling  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  plasma membrane  protein import into nucleus  apoptotic process  I-kappaB kinase/NF-kappaB signaling  cytoplasmic sequestering of NF-kappaB  transcription factor binding  nuclear localization sequence binding  negative regulation of macrophage derived foam cell differentiation  positive regulation of cholesterol efflux  negative regulation of lipid storage  protein deubiquitination  enzyme binding  ubiquitin protein ligase binding  lipopolysaccharide-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  positive regulation of cellular protein metabolic process  response to muramyl dipeptide  tumor necrosis factor-mediated signaling pathway  I-kappaB/NF-kappaB complex  toll-like receptor 4 signaling pathway  response to muscle stretch  regulation of cell population proliferation  identical protein binding  cytoplasmic sequestering of transcription factor  negative regulation of apoptotic process  response to exogenous dsRNA  negative regulation of DNA binding  negative regulation of myeloid cell differentiation  negative regulation of Notch signaling pathway  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of inflammatory response  NF-kappaB binding  NF-kappaB binding  positive regulation of NF-kappaB transcription factor activity  cellular response to cold  nucleotide-binding oligomerization domain containing 1 signaling pathway  nucleotide-binding oligomerization domain containing 2 signaling pathway  interleukin-1-mediated signaling pathway  regulation of NIK/NF-kappaB signaling  
Pathways : BIOCARTAThe 4-1BB-dependent immune response [Genes]    CD40L Signaling Pathway [Genes]    NF-kB Signaling Pathway [Genes]    AKT Signaling Pathway [Genes]    ATM Signaling Pathway [Genes]    Cadmium induces DNA synthesis and proliferation in macrophages [Genes]    TNF/Stress Related Signaling [Genes]    T Cell Receptor Signaling Pathway [Genes]    Chaperones modulate interferon Signaling Pathway [Genes]    Induction of apoptosis through DR3 and DR4/5 Death Receptors [Genes]    Erythropoietin mediated neuroprotection through NF-kB [Genes]    MAPKinase Signaling Pathway [Genes]    Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) [Genes]    TNFR2 Signaling Pathway [Genes]    Toll-Like Receptor Pathway [Genes]    HIV-I Nef: negative effector of Fas and TNF [Genes]    Signal transduction through IL1R [Genes]    Acetylation and Deacetylation of RelA in The Nucleus [Genes]    Keratinocyte Differentiation [Genes]    Activation of PKC through G protein coupled receptor [Genes]    fMLP induced chemokine gene expression in HMC-1 cells [Genes]    Influence of Ras and Rho proteins on G1 to S Transition [Genes]    NFkB activation by Nontypeable Hemophilus influenzae [Genes]    Double Stranded RNA Induced Gene Expression [Genes]    Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells [Genes]   
Pathways : KEGGChemokine signaling pathway    NF-kappa B 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    Adipocytokine signaling pathway    Epithelial cell signaling in Helicobacter pylori infection    Shigellosis    Legionellosis    Leishmaniasis    Chagas disease (American trypanosomiasis)    Toxoplasmosis    Hepatitis C    Hepatitis B    Measles    Influenza A    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Pathways in cancer    Viral carcinogenesis    Prostate cancer    Chronic myeloid leukemia    Small cell lung cancer   
NDEx NetworkNFKBIA
Atlas of Cancer Signalling NetworkNFKBIA
Wikipedia pathwaysNFKBIA
Orthology - Evolution
OrthoDB4792
GeneTree (enSembl)ENSG00000100906
Phylogenetic Trees/Animal Genes : TreeFamNFKBIA
Homologs : HomoloGeneNFKBIA
Homology/Alignments : Family Browser (UCSC)NFKBIA
Gene fusions - Rearrangements
Fusion : MitelmanPPP2R3C/NFKBIA [14q13.2/14q13.2]  
Fusion : QuiverNFKBIA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNFKBIA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NFKBIA
dbVarNFKBIA
ClinVarNFKBIA
MonarchNFKBIA
1000_GenomesNFKBIA 
Exome Variant ServerNFKBIA
GNOMAD BrowserENSG00000100906
Varsome BrowserNFKBIA
ACMGNFKBIA variants
VarityP25963
Genomic Variants (DGV)NFKBIA [DGVbeta]
DECIPHERNFKBIA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNFKBIA 
Mutations
ICGC Data PortalNFKBIA 
TCGA Data PortalNFKBIA 
Broad Tumor PortalNFKBIA
OASIS PortalNFKBIA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNFKBIA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNFKBIA
Mutations and Diseases : HGMDNFKBIA
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNFKBIA
DgiDB (Drug Gene Interaction Database)NFKBIA
DoCM (Curated mutations)NFKBIA
CIViC (Clinical Interpretations of Variants in Cancer)NFKBIA
Cancer3DNFKBIA
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164008    612132   
Orphanet19649    19650    13830   
DisGeNETNFKBIA
MedgenNFKBIA
Genetic Testing Registry NFKBIA
NextProtP25963 [Medical]
GENETestsNFKBIA
Target ValidationNFKBIA
Huge Navigator NFKBIA [HugePedia]
ClinGenNFKBIA
Clinical trials, drugs, therapy
MyCancerGenomeNFKBIA
Protein Interactions : CTDNFKBIA
Pharm GKB GenePA31601
PharosP25963
Clinical trialNFKBIA
Miscellaneous
canSAR (ICR)NFKBIA
HarmonizomeNFKBIA
DataMed IndexNFKBIA
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNFKBIA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:22:40 CEST 2021
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