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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) [ 3 ]
  M3/M3v acute myeloid leukemia (AML M3/M3v)
::Acute promyelocytic leukemia (APL)
::Acute promyelocytic leukemia (APL) PML/RARA
t(1;17)(q42;q21) IRF2BP2/RARA
t(5;17)(q35;q21) NPM1/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)
GoldenPathIRF2BP2 - 1q42.3 [CytoView hg19]  IRF2BP2 - 1q42.3 [CytoView hg38]
Genome Data Viewer NCBIIRF2BP2 [Mapview hg19]  
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
Alternative Splicing GalleryENSG00000168264
Gene ExpressionIRF2BP2 [ NCBI-GEO ]   IRF2BP2 [ EBI - ARRAY_EXPRESS ]   IRF2BP2 [ SEEK ]   IRF2BP2 [ MEM ]
Gene Expression Viewer (FireBrowse)IRF2BP2 [ Firebrowse - Broad ]
GenevisibleExpression of IRF2BP2 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
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 : AmiGOnegative regulation of transcription by RNA polymerase II  immature B cell differentiation  transcription corepressor activity  transcription corepressor activity  nucleus  nucleus  nucleoplasm  cytoplasm  regulation of transcription by RNA polymerase II  protein ubiquitination  metal ion binding  ubiquitin protein ligase activity  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  immature B cell differentiation  transcription corepressor activity  transcription corepressor activity  nucleus  nucleus  nucleoplasm  cytoplasm  regulation of transcription by RNA polymerase II  protein ubiquitination  metal ion binding  ubiquitin protein ligase activity  
NDEx NetworkIRF2BP2
Atlas of Cancer Signalling NetworkIRF2BP2
Wikipedia pathwaysIRF2BP2
Orthology - Evolution
OrthoDB359948
GeneTree (enSembl)ENSG00000168264
Phylogenetic Trees/Animal Genes : TreeFamIRF2BP2
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]  
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
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]  
Somatic Mutations in Cancer : COSMIC3DIRF2BP2
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
BioMutaselect 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
Open Targets GeneticsENSG00000168264  [validation]
snp3D : Map Gene to Disease359948
BioCentury BCIQIRF2BP2
ClinGenIRF2BP2
Clinical trials, drugs, therapy
Protein Interactions : CTD359948
Pharm GKB GenePA134947294
Clinical trialIRF2BP2
Miscellaneous
canSAR (ICR)IRF2BP2 (select the gene name)
HarmonizomeIRF2BP2
DataMed IndexIRF2BP2
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIRF2BP2
EVEXIRF2BP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Jul 11 19:53:46 CEST 2020
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