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NFKBIA (NFKB inhibitor alpha)

Identity

Alias_namesNFKBI
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor
Alias_symbol (synonym)IKBA
MAD-3
IkappaBalpha
Other alias
HGNC (Hugo) NFKBIA
LocusID (NCBI) 4792
Atlas_Id 41530
Location 14q13.2  [Link to chromosome band 14q13]
Location_base_pair Starts at 35401510 and ends at 35404754 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) [ 4 ]
  Classical Hodgkin lymphoma
Follicular Dendritic Cell Sarcoma
Hodgkin lymphoma
t(8;17)(q24;q22) ???BCL3/MYC

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(14;14)(q13;q13) PPP2R3C/NFKBIA

External links

Nomenclature
HGNC (Hugo)NFKBIA   7797
LRG (Locus Reference Genomic)LRG_89
Cards
Entrez_Gene (NCBI)NFKBIA  4792  NFKB inhibitor alpha
AliasesIKBA; MAD-3; NFKBI
GeneCards (Weizmann)NFKBIA
Ensembl hg19 (Hinxton)ENSG00000100906 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100906 [Gene_View]  ENSG00000100906 [Sequence]  chr14:35401510-35404754 [Contig_View]  NFKBIA [Vega]
ICGC DataPortalENSG00000100906
TCGA cBioPortalNFKBIA
AceView (NCBI)NFKBIA
Genatlas (Paris)NFKBIA
WikiGenes4792
SOURCE (Princeton)NFKBIA
Genetics Home Reference (NIH)NFKBIA
Genomic and cartography
GoldenPath hg38 (UCSC)NFKBIA  -     chr14:35401510-35404754 -  14q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NFKBIA  -     14q13.2   [Description]    (hg19-Feb_2009)
EnsemblNFKBIA - 14q13.2 [CytoView hg19]  NFKBIA - 14q13.2 [CytoView hg38]
Mapping of homologs : NCBINFKBIA [Mapview hg19]  NFKBIA [Mapview hg38]
OMIM164008   612132   
Gene and transcription
Genbank (Entrez)AK311515 AK313421 AY033600 BC002601 BC004983
RefSeq transcript (Entrez)NM_020529
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NFKBIA
Cluster EST : UnigeneHs.81328 [ NCBI ]
CGAP (NCI)Hs.81328
Alternative Splicing GalleryENSG00000100906
Gene ExpressionNFKBIA [ NCBI-GEO ]   NFKBIA [ EBI - ARRAY_EXPRESS ]   NFKBIA [ SEEK ]   NFKBIA [ MEM ]
Gene Expression Viewer (FireBrowse)NFKBIA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarP25963
PhosPhoSitePlusP25963
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom   
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
DMDM Disease mutations4792
Blocks (Seattle)NFKBIA
PDB (SRS)1IKN    1NFI   
PDB (PDBSum)1IKN    1NFI   
PDB (IMB)1IKN    1NFI   
PDB (RSDB)1IKN    1NFI   
Structural Biology KnowledgeBase1IKN    1NFI   
SCOP (Structural Classification of Proteins)1IKN    1NFI   
CATH (Classification of proteins structures)1IKN    1NFI   
SuperfamilyP25963
Human Protein Atlas [tissue]ENSG00000100906-NFKBIA [tissue]
Peptide AtlasP25963
HPRD01235
IPIIPI00018330   IPI01025114   IPI01024985   IPI01026284   IPI01026140   
Protein Interaction databases
DIP (DOE-UCLA)P25963
IntAct (EBI)P25963
FunCoupENSG00000100906
BioGRIDNFKBIA
STRING (EMBL)NFKBIA
ZODIACNFKBIA
Ontologies - Pathways
QuickGOP25963
Ontology : AmiGOprotein import into nucleus, translocation  stimulatory C-type lectin receptor signaling pathway  protein binding  intracellular  nucleus  cytoplasm  cytosol  cytosol  plasma membrane  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  viral process  protein deubiquitination  enzyme binding  heat shock protein binding  ubiquitin protein ligase binding  lipopolysaccharide-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  positive regulation of cellular protein metabolic process  protein complex binding  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  Fc-epsilon receptor signaling pathway  regulation of cell proliferation  regulation of NF-kappaB import into nucleus  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  T cell receptor signaling pathway  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  cellular response to organic cyclic compound  liver regeneration  
Ontology : EGO-EBIprotein import into nucleus, translocation  stimulatory C-type lectin receptor signaling pathway  protein binding  intracellular  nucleus  cytoplasm  cytosol  cytosol  plasma membrane  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  viral process  protein deubiquitination  enzyme binding  heat shock protein binding  ubiquitin protein ligase binding  lipopolysaccharide-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  positive regulation of cellular protein metabolic process  protein complex binding  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  Fc-epsilon receptor signaling pathway  regulation of cell proliferation  regulation of NF-kappaB import into nucleus  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  T cell receptor signaling pathway  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  cellular response to organic cyclic compound  liver regeneration  
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 : KEGGApoptosis    T cell receptor signaling pathway    Toll-like receptor signaling pathway    B cell receptor signaling pathway    Epithelial cell signaling in Helicobacter pylori infection    Adipocytokine signaling pathway   
NDEx NetworkNFKBIA
Atlas of Cancer Signalling NetworkNFKBIA
Wikipedia pathwaysNFKBIA
Orthology - Evolution
OrthoDB4792
GeneTree (enSembl)ENSG00000100906
Phylogenetic Trees/Animal Genes : TreeFamNFKBIA
HOVERGENP25963
HOGENOMP25963
Homologs : HomoloGeneNFKBIA
Homology/Alignments : Family Browser (UCSC)NFKBIA
Gene fusions - Rearrangements
Fusion : MitelmanPPP2R3C/NFKBIA [14q13.2/14q13.2]  [t(14;14)(q13;q13)]  
Fusion PortalPPP2R3C 14q13.2 NFKBIA 14q13.2 BRCA
Fusion : QuiverNFKBIA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNFKBIA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NFKBIA
dbVarNFKBIA
ClinVarNFKBIA
1000_GenomesNFKBIA 
Exome Variant ServerNFKBIA
ExAC (Exome Aggregation Consortium)ENSG00000100906
GNOMAD BrowserENSG00000100906
Genetic variants : HAPMAP4792
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]  
Mutations and Diseases : HGMDNFKBIA
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch NFKBIA
DgiDB (Drug Gene Interaction Database)NFKBIA
DoCM (Curated mutations)NFKBIA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NFKBIA (select a term)
intoGenNFKBIA
Cancer3DNFKBIA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164008    612132   
Orphanet19649    19650    13830   
DisGeNETNFKBIA
MedgenNFKBIA
Genetic Testing Registry NFKBIA
NextProtP25963 [Medical]
TSGene4792
GENETestsNFKBIA
Target ValidationNFKBIA
Huge Navigator NFKBIA [HugePedia]
snp3D : Map Gene to Disease4792
BioCentury BCIQNFKBIA
ClinGenNFKBIA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4792
Chemical/Pharm GKB GenePA31601
Clinical trialNFKBIA
Miscellaneous
canSAR (ICR)NFKBIA (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNFKBIA
EVEXNFKBIA
GoPubMedNFKBIA
iHOPNFKBIA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:40:06 CEST 2018
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