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Aliases for IRF2BP2 Gene

Aliases for IRF2BP2 Gene

  • Interferon Regulatory Factor 2 Binding Protein 2 2 3 5
  • IRF-2-Binding Protein 2 4
  • IRF-2BP2 4

External Ids for IRF2BP2 Gene

Previous GeneCards Identifiers for IRF2BP2 Gene

  • GC01U900151
  • GC01M231827
  • GC01M231049
  • GC01M232806
  • GC01M234740
  • GC01M205232

Summaries for IRF2BP2 Gene

Entrez Gene Summary for IRF2BP2 Gene

  • This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for IRF2BP2 Gene

IRF2BP2 (Interferon Regulatory Factor 2 Binding Protein 2) is a Protein Coding gene. Diseases associated with IRF2BP2 include Mesenchymal Chondrosarcoma and Common Variable Immunodeficiency. An important paralog of this gene is IRF2BPL.

UniProtKB/Swiss-Prot for IRF2BP2 Gene

  • Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities. Represses the NFAT1-dependent transactivation of NFAT-responsive promoters. Acts as a coactivator of VEGFA expression in cardiac and skeletal muscle.

Additional gene information for IRF2BP2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRF2BP2 Gene

Genomics for IRF2BP2 Gene

Regulatory Elements for IRF2BP2 Gene

Enhancers for IRF2BP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H234714 2.1 FANTOM5 Ensembl ENCODE dbSUPER 99.4 -112.1 -112091 14.8 MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ARID4B RPS21P1 IRF2BP2 TBCE LOC102724100 LOC105373206 GGPS1 ENSG00000230404 ENSG00000228830 B3GALNT2
GH01H234598 2.2 FANTOM5 Ensembl ENCODE dbSUPER 69.8 -2.3 -2322 26.9 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ARID4B RPS21P1 IRF2BP2 TBCE LOC102724100 LOC105373206 TARBP1 LINC01354 ENSG00000230404 B3GALNT2
GH01H234968 1.9 FANTOM5 ENCODE dbSUPER 46.4 -369.5 -369492 21.3 MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ARID4B GGPS1 RPS21P1 IRF2BP2 LOC102724100 TBCE LOC105373206 LOC101927851 ENSG00000230404 TARBP1
GH01H234527 2 FANTOM5 Ensembl ENCODE dbSUPER 42.4 +72.0 72006 20.1 ZFP64 YBX1 FEZF1 YY1 SP3 NFYC MEF2D SSRP1 ZNF610 GLIS1 ARID4B TBCE RPS21P1 IRF2BP2 LINC01354 B3GALNT2 ENSG00000212144 GGPS1 LOC101927765 GC01M234541
GH01H235010 1.9 FANTOM5 Ensembl ENCODE dbSUPER 38.7 -402.7 -402696 4.4 HDGF PKNOX1 ZFP64 SIN3A YBX1 YY1 ZNF416 ZNF143 FOS ZNF548 ARID4B IRF2BP2 RPS21P1 TBCE LDHAP2 RBM34 GC01P235015 GC01P235007
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IRF2BP2 on UCSC Golden Path with GeneCards custom track

Promoters for IRF2BP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000257385 1825 7401 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC ZFP41

Genomic Locations for IRF2BP2 Gene

Genomic Locations for IRF2BP2 Gene
chr1:234,604,269-234,609,525
(GRCh38/hg38)
Size:
5,257 bases
Orientation:
Minus strand
chr1:234,740,015-234,745,271
(GRCh37/hg19)

Genomic View for IRF2BP2 Gene

Genes around IRF2BP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRF2BP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRF2BP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRF2BP2 Gene

Proteins for IRF2BP2 Gene

  • Protein details for IRF2BP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5L9-I2BP2_HUMAN
    Recommended name:
    Interferon regulatory factor 2-binding protein 2
    Protein Accession:
    Q7Z5L9
    Secondary Accessions:
    • B1AM35
    • B1AM36
    • Q6P083
    • Q7Z5L8
    • Q8N351
    • Q8WUH8

    Protein attributes for IRF2BP2 Gene

    Size:
    587 amino acids
    Molecular mass:
    61025 Da
    Quaternary structure:
    • Interacts with IRF2. Part of a corepressor complex containing IRF2 and IRF2BP1. Interacts with VGLL4.

    Alternative splice isoforms for IRF2BP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IRF2BP2 Gene

Post-translational modifications for IRF2BP2 Gene

  • Phosphorylation at Ser-360 is required for nuclear targeting.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IRF2BP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IRF2BP2 Gene

Domains & Families for IRF2BP2 Gene

Gene Families for IRF2BP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IRF2BP2 Gene

Suggested Antigen Peptide Sequences for IRF2BP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z5L9

UniProtKB/Swiss-Prot:

I2BP2_HUMAN :
  • The C-terminal RING-type zinc finger domain is sufficient for interaction with IRF2.
  • Belongs to the IRF2BP family.
Domain:
  • The C-terminal RING-type zinc finger domain is sufficient for interaction with IRF2.
Family:
  • Belongs to the IRF2BP family.
genes like me logo Genes that share domains with IRF2BP2: view

Function for IRF2BP2 Gene

Molecular function for IRF2BP2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities. Represses the NFAT1-dependent transactivation of NFAT-responsive promoters. Acts as a coactivator of VEGFA expression in cardiac and skeletal muscle.

Phenotypes From GWAS Catalog for IRF2BP2 Gene

Gene Ontology (GO) - Molecular Function for IRF2BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with IRF2BP2: view
genes like me logo Genes that share phenotypes with IRF2BP2: view

Animal Model Products

miRNA for IRF2BP2 Gene

miRTarBase miRNAs that target IRF2BP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IRF2BP2 Gene

Localization for IRF2BP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRF2BP2 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRF2BP2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IRF2BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with IRF2BP2: view

Pathways & Interactions for IRF2BP2 Gene

SuperPathways for IRF2BP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IRF2BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with IRF2BP2: view

No data available for Pathways by source and SIGNOR curated interactions for IRF2BP2 Gene

Drugs & Compounds for IRF2BP2 Gene

No Compound Related Data Available

Transcripts for IRF2BP2 Gene

Unigene Clusters for IRF2BP2 Gene

Interferon regulatory factor 2 binding protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IRF2BP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1: - -
SP2: -
SP3:

Relevant External Links for IRF2BP2 Gene

GeneLoc Exon Structure for
IRF2BP2
ECgene alternative splicing isoforms for
IRF2BP2

Expression for IRF2BP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IRF2BP2 Gene

Protein differential expression in normal tissues from HIPED for IRF2BP2 Gene

This gene is overexpressed in Nasal epithelium (30.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IRF2BP2 Gene



Protein tissue co-expression partners for IRF2BP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IRF2BP2 Gene:

IRF2BP2

SOURCE GeneReport for Unigene cluster for IRF2BP2 Gene:

Hs.350268

Evidence on tissue expression from TISSUES for IRF2BP2 Gene

  • Lung(4.7)
  • Liver(4.4)
  • Nervous system(4)
  • Intestine(2.7)
  • Bone marrow(2.4)
  • Pancreas(2.4)
  • Muscle(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with IRF2BP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IRF2BP2 Gene

Orthologs for IRF2BP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for IRF2BP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IRF2BP2 33 34
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia IRF2BP2 33 34
  • 92.34 (n)
cow
(Bos Taurus)
Mammalia IRF2BP2 33 34
  • 92.08 (n)
mouse
(Mus musculus)
Mammalia Irf2bp2 33 16 34
  • 86.41 (n)
rat
(Rattus norvegicus)
Mammalia Irf2bp2 33
  • 85.24 (n)
oppossum
(Monodelphis domestica)
Mammalia IRF2BP2 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves IRF2BP2 34
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IRF2BP2 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia irf2bp2 33
  • 71.14 (n)
LOC394851 33
African clawed frog
(Xenopus laevis)
Amphibia irf2bp2-A 33
zebrafish
(Danio rerio)
Actinopterygii irf2bp2a 33
  • 66.46 (n)
irf2bp2b 34
  • 58 (a)
OneToOne
wufj35c12 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8448 33
fruit fly
(Drosophila melanogaster)
Insecta CG11138 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-260 34
  • 29 (a)
OneToMany
Species where no ortholog for IRF2BP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IRF2BP2 Gene

ENSEMBL:
Gene Tree for IRF2BP2 (if available)
TreeFam:
Gene Tree for IRF2BP2 (if available)

Paralogs for IRF2BP2 Gene

Paralogs for IRF2BP2 Gene

genes like me logo Genes that share paralogs with IRF2BP2: view

Variants for IRF2BP2 Gene

Sequence variations from dbSNP and Humsavar for IRF2BP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000034637 -- 234,610,679(+) GACAT(-/AC)GCCCC upstream-variant-2KB
rs1000478741 -- 234,609,222(+) AAAAG(A/G)ATGTC reference, synonymous-codon
rs1000513602 -- 234,610,549(+) CTCCT(A/G)AGAAT upstream-variant-2KB
rs1000766976 -- 234,608,184(+) TGGTG(C/T)CCTCA intron-variant
rs1001220608 -- 234,608,349(+) TGTTT(C/G)TGGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IRF2BP2 Gene

Variant ID Type Subtype PubMed ID
nsv953993 CNV duplication 24416366
nsv832914 CNV loss 17160897
nsv827387 CNV gain 20364138
nsv549379 CNV gain 21841781
nsv549375 CNV loss 21841781
nsv4921 CNV insertion 18451855
nsv468395 CNV loss 19166990
nsv1136104 CNV deletion 24896259
nsv1068224 CNV deletion 25765185
esv25047 CNV loss 19812545
dgv863n54 CNV loss 21841781
dgv862n54 CNV gain 21841781
dgv861n54 CNV gain+loss 21841781
dgv860n54 CNV loss 21841781
dgv859n54 CNV loss 21841781

Variation tolerance for IRF2BP2 Gene

Residual Variation Intolerance Score: 21.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.90; 67.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IRF2BP2 Gene

Human Gene Mutation Database (HGMD)
IRF2BP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRF2BP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRF2BP2 Gene

Disorders for IRF2BP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IRF2BP2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mesenchymal chondrosarcoma
  • chondrosarcoma mesenchymal
common variable immunodeficiency
  • acquired agammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for IRF2BP2

Genetic Association Database (GAD)
IRF2BP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IRF2BP2
genes like me logo Genes that share disorders with IRF2BP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IRF2BP2 Gene

Publications for IRF2BP2 Gene

  1. Identification of novel co-repressor molecules for Interferon Regulatory Factor-2. (PMID: 12799427) Childs KS … Goodbourn S (Nucleic acids research 2003) 2 3 4 60
  2. Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias. (PMID: 22247754) Murray SS … GAME Investigators (PloS one 2012) 3 45 60
  3. Interferon regulatory factor 2 binding protein 2 is a new NFAT1 partner and represses its transcriptional activity. (PMID: 21576369) Carneiro FR … Viola JP (Molecular and cellular biology 2011) 3 4 60
  4. Identification of a phosphorylation-dependent nuclear localization motif in interferon regulatory factor 2 binding protein 2. (PMID: 21887377) Teng AC … Stewart AF (PloS one 2011) 3 4 60
  5. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 45 60

Products for IRF2BP2 Gene