Atlas of Genetics and Cytogenetics in Oncology and Haematology


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IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein)

Identity

Other namesDYS
ELP1
FD
IKAP
IKI3
TOT1
HGNC (Hugo) IKBKAP
LocusID (NCBI) 8518
Location 9q31.3
Location_base_pair Starts at 111629800 and ends at 111696608 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

 

External links

Nomenclature
HGNC (Hugo)IKBKAP   5959
Cards
Entrez_Gene (NCBI)IKBKAP  8518  inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
GeneCards (Weizmann)IKBKAP
Ensembl (Hinxton)ENSG00000070061 [Gene_View]  chr9:111629800-111696608 [Contig_View]  IKBKAP [Vega]
ICGC DataPortalENSG00000070061
cBioPortalIKBKAP
AceView (NCBI)IKBKAP
Genatlas (Paris)IKBKAP
WikiGenes8518
SOURCE (Princeton)NM_003640
Genomic and cartography
GoldenPath (UCSC)IKBKAP  -  9q31.3   chr9:111629800-111696608 -  9q31.3   [Description]    (hg19-Feb_2009)
EnsemblIKBKAP - 9q31.3 [CytoView]
Mapping of homologs : NCBIIKBKAP [Mapview]
OMIM223900   603722   
Gene and transcription
Genbank (Entrez)AB210033 AF044195 AF153419 AK001641 AK022559
RefSeq transcript (Entrez)NM_003640
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NG_008788 NT_008470 NW_001839236 NW_004929366
Consensus coding sequences : CCDS (NCBI)IKBKAP
Cluster EST : UnigeneHs.494738 [ NCBI ]
CGAP (NCI)Hs.494738
Alternative Splicing : Fast-db (Paris)GSHG0031048
Alternative Splicing GalleryENSG00000070061
Gene ExpressionIKBKAP [ NCBI-GEO ]     IKBKAP [ SEEK ]   IKBKAP [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95163 (Uniprot)
NextProtO95163  [Medical]
With graphics : InterProO95163
Splice isoforms : SwissVarO95163 (Swissvar)
Domains : Interpro (EBI)6-blade_b-propeller_TolB-like [organisation]   IKI3 [organisation]  
Related proteins : CluSTrO95163
Domain families : Pfam (Sanger)IKI3 (PF04762)   
Domain families : Pfam (NCBI)pfam04762   
DMDM Disease mutations8518
Blocks (Seattle)O95163
Human Protein AtlasENSG00000070061 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO95163
HPRD04763
IPIIPI00293735   IPI00981273   
Protein Interaction databases
DIP (DOE-UCLA)O95163
IntAct (EBI)O95163
FunCoupENSG00000070061
BioGRIDIKBKAP
InParanoidO95163
Interologous Interaction database O95163
IntegromeDBIKBKAP
STRING (EMBL)IKBKAP
Ontologies - Pathways
Ontology : AmiGODNA binding  signal transducer activity  protein binding  nucleolus  cytoplasm  chromatin organization  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  protein complex assembly  protein phosphorylation  immune response  signal transduction  transcription elongation factor complex  phosphorylase kinase regulator activity  DNA-directed RNA polymerase II, holoenzyme  positive regulation of cell migration  Elongator holoenzyme complex  regulation of protein kinase activity  regulation of protein kinase activity  
Ontology : EGO-EBIDNA binding  signal transducer activity  protein binding  nucleolus  cytoplasm  chromatin organization  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  protein complex assembly  protein phosphorylation  immune response  signal transduction  transcription elongation factor complex  phosphorylase kinase regulator activity  DNA-directed RNA polymerase II, holoenzyme  positive regulation of cell migration  Elongator holoenzyme complex  regulation of protein kinase activity  regulation of protein kinase activity  
Pathways : BIOCARTACD40L Signaling Pathway [Genes]    TNFR2 Signaling Pathway [Genes]   
Protein Interaction DatabaseIKBKAP
Wikipedia pathwaysIKBKAP
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)IKBKAP
snp3D : Map Gene to Disease8518
SNP (GeneSNP Utah)IKBKAP
SNP : HGBaseIKBKAP
Genetic variants : HAPMAPIKBKAP
Exome VariantIKBKAP
1000_GenomesIKBKAP 
ICGC programENSG00000070061 
Somatic Mutations in Cancer : COSMICIKBKAP 
CONAN: Copy Number AnalysisIKBKAP 
Mutations and Diseases : HGMDIKBKAP
Mutations and Diseases : intOGenIKBKAP
Genomic VariantsIKBKAP  IKBKAP [DGVbeta]
dbVarIKBKAP
ClinVarIKBKAP
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM223900    603722   
MedgenIKBKAP
GENETestsIKBKAP
Disease Genetic AssociationIKBKAP
Huge Navigator IKBKAP [HugePedia]  IKBKAP [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneIKBKAP
Homology/Alignments : Family Browser (UCSC)IKBKAP
Phylogenetic Trees/Animal Genes : TreeFamIKBKAP
Chemical/Protein Interactions : CTD8518
Chemical/Pharm GKB GenePA29775
Clinical trialIKBKAP
Cancer Resource (Charite)ENSG00000070061
Other databases
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
CoreMineIKBKAP
iHOPIKBKAP
OncoSearchIKBKAP
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:50:39 CEST 2014

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