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IRF2BP2 (interferon regulatory factor 2 binding protein 2)

Identity

Alias_symbol (synonym)IRF-2BP2
Other aliasCVID14
HGNC (Hugo) IRF2BP2
LocusID (NCBI) 359948
Atlas_Id 52463
Location 1q42.3  [Link to chromosome band 1q42]
Location_base_pair Starts at 234604269 and ends at 234609525 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)
IRF2BP2 (1q42.3) / CALM1 (14q32.11)IRF2BP2 (1q42.3) / CDX1 (5q32)IRF2BP2 (1q42.3) / NTRK1 (1q23.1)
IRF2BP2 (1q42.3) / RARA (17q21.2)NEUROD2 (17q12) / IRF2BP2 (1q42.3)PGRMC2 (4q28.2) / IRF2BP2 (1q42.3)
QTRT1 (19p13.2) / IRF2BP2 (1q42.3)IRF2BP2 CDX1IRF2BP2 1q42.3 / NTRK1 1q23.1

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 ]
  M3/M3v acute myeloid leukemia (AML M3/M3v)
::Acute promyelocytic leukemia (APL)
::Acute promyelocytic leukemia (APL) PML/RARA
t(1;17)(p34;q21) IRF2BP2/RARA
t(5;17)(q35;q21) NPM1/RARA
t(1;17)(q42;q21) IRF2BP2/RARA

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Soft tissue tumors: an overview
t(1;1)(q23;q42) IRF2BP2/NTRK1
t(1;5)(q42;q32) IRF2BP2/CDX1

External links

Nomenclature
HGNC (Hugo)IRF2BP2   21729
Cards
Entrez_Gene (NCBI)IRF2BP2  359948  interferon regulatory factor 2 binding protein 2
AliasesCVID14
GeneCards (Weizmann)IRF2BP2
Ensembl hg19 (Hinxton)ENSG00000168264 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168264 [Gene_View]  ENSG00000168264 [Sequence]  chr1:234604269-234609525 [Contig_View]  IRF2BP2 [Vega]
ICGC DataPortalENSG00000168264
TCGA cBioPortalIRF2BP2
AceView (NCBI)IRF2BP2
Genatlas (Paris)IRF2BP2
WikiGenes359948
SOURCE (Princeton)IRF2BP2
Genetics Home Reference (NIH)IRF2BP2
Genomic and cartography
GoldenPath hg38 (UCSC)IRF2BP2  -     chr1:234604269-234609525 -  1q42.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IRF2BP2  -     1q42.3   [Description]    (hg19-Feb_2009)
EnsemblIRF2BP2 - 1q42.3 [CytoView hg19]  IRF2BP2 - 1q42.3 [CytoView hg38]
Mapping of homologs : NCBIIRF2BP2 [Mapview hg19]  IRF2BP2 [Mapview hg38]
OMIM615332   617765   
Gene and transcription
Genbank (Entrez)AK054864 AK056930 AK300375 AK309579 AY278023
RefSeq transcript (Entrez)NM_001077397 NM_182972
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IRF2BP2
Cluster EST : UnigeneHs.350268 [ NCBI ]
CGAP (NCI)Hs.350268
Alternative Splicing GalleryENSG00000168264
Gene ExpressionIRF2BP2 [ NCBI-GEO ]   IRF2BP2 [ EBI - ARRAY_EXPRESS ]   IRF2BP2 [ SEEK ]   IRF2BP2 [ MEM ]
Gene Expression Viewer (FireBrowse)IRF2BP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)359948
GTEX Portal (Tissue expression)IRF2BP2
Human Protein AtlasENSG00000168264-IRF2BP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z5L9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z5L9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z5L9
Splice isoforms : SwissVarQ7Z5L9
PhosPhoSitePlusQ7Z5L9
Domains : Interpro (EBI)Interferon_reg_fac2-bd1_2_Znf   
Domain families : Pfam (Sanger)IRF-2BP1_2 (PF11261)   
Domain families : Pfam (NCBI)pfam11261   
Conserved Domain (NCBI)IRF2BP2
DMDM Disease mutations359948
Blocks (Seattle)IRF2BP2
SuperfamilyQ7Z5L9
Human Protein Atlas [tissue]ENSG00000168264-IRF2BP2 [tissue]
Peptide AtlasQ7Z5L9
HPRD17160
IPIIPI00376199   IPI00889619   IPI00646970   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z5L9
IntAct (EBI)Q7Z5L9
FunCoupENSG00000168264
BioGRIDIRF2BP2
STRING (EMBL)IRF2BP2
ZODIACIRF2BP2
Ontologies - Pathways
QuickGOQ7Z5L9
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding  nucleus  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  metal ion binding  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding  nucleus  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  metal ion binding  
NDEx NetworkIRF2BP2
Atlas of Cancer Signalling NetworkIRF2BP2
Wikipedia pathwaysIRF2BP2
Orthology - Evolution
OrthoDB359948
GeneTree (enSembl)ENSG00000168264
Phylogenetic Trees/Animal Genes : TreeFamIRF2BP2
HOVERGENQ7Z5L9
HOGENOMQ7Z5L9
Homologs : HomoloGeneIRF2BP2
Homology/Alignments : Family Browser (UCSC)IRF2BP2
Gene fusions - Rearrangements
Fusion : MitelmanIRF2BP2/CDX1 [1q42.3/5q32]  
Fusion : MitelmanIRF2BP2/NTRK1 [1q42.3/1q23.1]  [t(1;1)(q23;q42)]  
Fusion PortalIRF2BP2 1q42.3 NTRK1 1q23.1 THCA
Fusion : QuiverIRF2BP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIRF2BP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IRF2BP2
dbVarIRF2BP2
ClinVarIRF2BP2
1000_GenomesIRF2BP2 
Exome Variant ServerIRF2BP2
ExAC (Exome Aggregation Consortium)ENSG00000168264
GNOMAD BrowserENSG00000168264
Varsome BrowserIRF2BP2
Genetic variants : HAPMAP359948
Genomic Variants (DGV)IRF2BP2 [DGVbeta]
DECIPHERIRF2BP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIRF2BP2 
Mutations
ICGC Data PortalIRF2BP2 
TCGA Data PortalIRF2BP2 
Broad Tumor PortalIRF2BP2
OASIS PortalIRF2BP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIRF2BP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIRF2BP2
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
BioMutasearch IRF2BP2
DgiDB (Drug Gene Interaction Database)IRF2BP2
DoCM (Curated mutations)IRF2BP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IRF2BP2 (select a term)
intoGenIRF2BP2
Cancer3DIRF2BP2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615332    617765   
Orphanet
DisGeNETIRF2BP2
MedgenIRF2BP2
Genetic Testing Registry IRF2BP2
NextProtQ7Z5L9 [Medical]
TSGene359948
GENETestsIRF2BP2
Target ValidationIRF2BP2
Huge Navigator IRF2BP2 [HugePedia]
snp3D : Map Gene to Disease359948
BioCentury BCIQIRF2BP2
ClinGenIRF2BP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD359948
Chemical/Pharm GKB GenePA134947294
Clinical trialIRF2BP2
Miscellaneous
canSAR (ICR)IRF2BP2 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIRF2BP2
EVEXIRF2BP2
GoPubMedIRF2BP2
iHOPIRF2BP2
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 : Mon Aug 27 11:29:34 CEST 2018
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