Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha)

Identity

Other namesIKBA
MAD-3
NFKBI
HGNC (Hugo) NFKBIA
LocusID (NCBI) 4792
Location 14q13.2
Location_base_pair Starts at 35870716 and ends at 35873960 bp from pter ( according to hg19-Feb_2009)
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)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)NFKBIA   7797
Cards
Entrez_Gene (NCBI)NFKBIA  4792  nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
GeneCards (Weizmann)NFKBIA
Ensembl hg19 (Hinxton)ENSG00000100906 [Gene_View]  chr14:35870716-35873960 [Contig_View]  NFKBIA [Vega]
Ensembl hg38 (Hinxton)ENSG00000100906 [Gene_View]  chr14:35870716-35873960 [Contig_View]  NFKBIA [Vega]
ICGC DataPortalENSG00000100906
cBioPortalNFKBIA
AceView (NCBI)NFKBIA
Genatlas (Paris)NFKBIA
WikiGenes4792
SOURCE (Princeton)NFKBIA
Genomic and cartography
GoldenPath hg19 (UCSC)NFKBIA  -     chr14:35870716-35873960 -  14q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NFKBIA  -     14q13.2   [Description]    (hg38-Dec_2013)
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)AC_000146 NC_000014 NC_018925 NG_007571 NT_026437 NW_001838110 NW_004929393
Consensus coding sequences : CCDS (NCBI)NFKBIA
Cluster EST : UnigeneHs.81328 [ NCBI ]
CGAP (NCI)Hs.81328
Alternative Splicing : Fast-db (Paris)GSHG0009307
Alternative Splicing GalleryENSG00000100906
Gene ExpressionNFKBIA [ NCBI-GEO ]     NFKBIA [ SEEK ]   NFKBIA [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP25963 (Uniprot)
NextProtP25963  [Medical]
With graphics : InterProP25963
Splice isoforms : SwissVarP25963 (Swissvar)
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom   
Related proteins : CluSTrP25963
Domain families : Pfam (Sanger)Ank (PF00023)   
Domain families : Pfam (NCBI)pfam00023   
Domain families : Smart (EMBL)ANK (SM00248)  
DMDM Disease mutations4792
Blocks (Seattle)P25963
PDB (SRS)1IKN    1NFI   
PDB (PDBSum)1IKN    1NFI   
PDB (IMB)1IKN    1NFI   
PDB (RSDB)1IKN    1NFI   
Human Protein AtlasENSG00000100906
Peptide AtlasP25963
HPRD01235
IPIIPI00018330   IPI01025114   IPI01024985   IPI01026284   IPI01026140   
Protein Interaction databases
DIP (DOE-UCLA)P25963
IntAct (EBI)P25963
FunCoupENSG00000100906
BioGRIDNFKBIA
IntegromeDBNFKBIA
STRING (EMBL)NFKBIA
Ontologies - Pathways
QuickGOP25963
Ontology : AmiGOprotein import into nucleus, translocation  toll-like receptor signaling pathway  MyD88-dependent toll-like receptor signaling pathway  MyD88-independent toll-like receptor signaling pathway  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  apoptotic process  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  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  positive regulation of type I interferon production  response to muramyl dipeptide  I-kappaB/NF-kappaB complex  toll-like receptor 2 signaling pathway  toll-like receptor 3 signaling pathway  toll-like receptor 4 signaling pathway  toll-like receptor 5 signaling pathway  toll-like receptor 9 signaling pathway  toll-like receptor 10 signaling pathway  TRIF-dependent toll-like receptor signaling pathway  Fc-epsilon receptor signaling pathway  toll-like receptor TLR1:TLR2 signaling pathway  toll-like receptor TLR6:TLR2 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  innate immune response  negative regulation of myeloid cell differentiation  negative regulation of Notch signaling pathway  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  neurotrophin TRK receptor signaling pathway  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  
Ontology : EGO-EBIprotein import into nucleus, translocation  toll-like receptor signaling pathway  MyD88-dependent toll-like receptor signaling pathway  MyD88-independent toll-like receptor signaling pathway  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  apoptotic process  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  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  positive regulation of type I interferon production  response to muramyl dipeptide  I-kappaB/NF-kappaB complex  toll-like receptor 2 signaling pathway  toll-like receptor 3 signaling pathway  toll-like receptor 4 signaling pathway  toll-like receptor 5 signaling pathway  toll-like receptor 9 signaling pathway  toll-like receptor 10 signaling pathway  TRIF-dependent toll-like receptor signaling pathway  Fc-epsilon receptor signaling pathway  toll-like receptor TLR1:TLR2 signaling pathway  toll-like receptor TLR6:TLR2 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  innate immune response  negative regulation of myeloid cell differentiation  negative regulation of Notch signaling pathway  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  neurotrophin TRK receptor signaling pathway  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  
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   
Protein Interaction DatabaseNFKBIA
DoCM (Curated mutations)NFKBIA
Wikipedia pathwaysNFKBIA
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNFKBIA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NFKBIA
dbVarNFKBIA
ClinVarNFKBIA
1000_GenomesNFKBIA 
Exome Variant ServerNFKBIA
SNP (GeneSNP Utah)NFKBIA
SNP : HGBaseNFKBIA
Genetic variants : HAPMAPNFKBIA
Genomic VariantsNFKBIA  NFKBIA [DGVbeta]
Mutations
ICGC Data PortalENSG00000100906 
Somatic Mutations in Cancer : COSMICNFKBIA 
CONAN: Copy Number AnalysisNFKBIA 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:35870716-35873960
Mutations and Diseases : HGMDNFKBIA
OMIM164008    612132   
MedgenNFKBIA
NextProtP25963 [Medical]
GENETestsNFKBIA
Disease Genetic AssociationNFKBIA
Huge Navigator NFKBIA [HugePedia]  NFKBIA [HugeCancerGEM]
snp3D : Map Gene to Disease4792
DGIdb (Drug Gene Interaction db)NFKBIA
General knowledge
Homologs : HomoloGeneNFKBIA
Homology/Alignments : Family Browser (UCSC)NFKBIA
Phylogenetic Trees/Animal Genes : TreeFamNFKBIA
Chemical/Protein Interactions : CTD4792
Chemical/Pharm GKB GenePA31601
Clinical trialNFKBIA
Cancer Resource (Charite)ENSG00000100906
Other databases
Probes
Litterature
PubMed473 Pubmed reference(s) in Entrez
CoreMineNFKBIA
GoPubMedNFKBIA
iHOPNFKBIA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:27:15 CET 2014
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