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] See more...

Aliases for IRF2BP2 Gene

Aliases for IRF2BP2 Gene

  • Interferon Regulatory Factor 2 Binding Protein 2 2 3 5
  • Interferon Regulatory Factor 2-Binding Protein 2 3 4
  • IRF-2-Binding Protein 2 3 4
  • IRF-2BP2 4
  • CVID14 3

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 Immunodeficiency, Common Variable, 14 and Acute Promyelocytic Leukemia. An important paralog of this gene is IRF2BPL.

UniProtKB/Swiss-Prot Summary for IRF2BP2 Gene

  • Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of NFAT-responsive promoters (PubMed:21576369). Acts as a coactivator of VEGFA expression in cardiac and skeletal muscles (PubMed:20702774). Plays a role in immature B-cell differentiation (PubMed:27016798).

Additional gene information for IRF2BP2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRF2BP2 Gene

Genomics for IRF2BP2 Gene

GeneHancer (GH) Regulatory Elements for IRF2BP2 Gene

Promoters and enhancers for IRF2BP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J234598 Promoter/Enhancer 3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 812.2 -2.4 -2369 27 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SREBF1 ZBTB6 LCORL FOXA1 IRF2BP2 ARID4B RPS21P1 ENSG00000236244 ENSG00000231272 TARBP1 GGPS1 LINC01354 ENSG00000230404 RBM34
GH01J234714 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 93.9 -112.1 -112069 14.7 ZNF785 ZBTB40 SP1 ZBTB6 LCORL FOXA1 MLX RBPJ SMARCE1 POLR2A piR-40121 ARID4B RPS21P1 IRF2BP2 ENSG00000236244 GGPS1 ENSG00000231272 COA6-AS1 TARBP1 ENSG00000230404
GH01J234968 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 65 -369.5 -369492 21.3 ZNF785 SIN3A ZNF24 SP1 ZBTB40 GATA3 SREBF1 LCORL FOXA1 MLX ENSG00000258082 lnc-GGPS1-16 ARID4B GGPS1 IRF2BP2 RPS21P1 ENSG00000236244 ENSG00000231272 LDHAP2 ENSG00000238005
GH01J234529 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 44.9 +70.8 70786 17.7 ZNF785 ZBTB40 ZBTB6 FOXA1 MLX RBPJ SMARCE1 USF2 ATF1 CREB1 ENSG00000286210 ARID4B RPS21P1 IRF2BP2 GGPS1 LINC01354 ENSG00000212144 RBM34 TARBP1 HSALNG0011604
GH01J234953 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 43.3 -350.2 -350218 12.7 SIN3A ZNF24 ZBTB40 SP1 CTCF SREBF1 LCORL FOXA1 MLX RBPJ ARID4B RPS21P1 IRF2BP2 GGPS1 ENSG00000238005 ENSG00000228830 LDHAP2 RBM34 TOMM20 COA6-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRF2BP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IRF2BP2 gene promoter:
  • AP-4
  • c-Myb
  • CREB
  • En-1
  • HEN1
  • ISGF-3
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • Zic1

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)
Size:
5,257 bases
Orientation:
Minus strand

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:
  • Interferon regulatory factor 2-binding protein 2 (I2BP2_HUMAN)

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 (PubMed:12799427). Represses the NFAT1-dependent transactivation of NFAT-responsive promoters (PubMed:21576369). Acts as a coactivator of VEGFA expression in cardiac and skeletal muscles (PubMed:20702774). Plays a role in immature B-cell differentiation (PubMed:27016798).

Phenotypes From GWAS Catalog for IRF2BP2 Gene

Gene Ontology (GO) - Molecular Function for IRF2BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
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

Human Phenotype Ontology for IRF2BP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for IRF2BP2 Gene

miRTarBase miRNAs that target IRF2BP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
mitochondrion 1
cytosol 1
extracellular 0

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,IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with IRF2BP2: view

Pathways & Interactions for IRF2BP2 Gene

PathCards logo

SuperPathways for IRF2BP2 Gene

No Data Available

SIGNOR curated interactions for IRF2BP2 Gene

Activates:

Gene Ontology (GO) - Biological Process for IRF2BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002327 immature B cell differentiation IDA 27016798
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with IRF2BP2: view

No data available for Pathways by source for IRF2BP2 Gene

Drugs & Compounds for IRF2BP2 Gene

No Compound Related Data Available

Transcripts for IRF2BP2 Gene

mRNA/cDNA for IRF2BP2 Gene

CRISPR Products

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, 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 32
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IRF2BP2 33 32
  • 92.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IRF2BP2 33 32
  • 92.08 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Irf2bp2 17 33 32
  • 86.41 (n)
rat
(Rattus norvegicus)
Mammalia Irf2bp2 32
  • 85.24 (n)
oppossum
(Monodelphis domestica)
Mammalia IRF2BP2 33
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves IRF2BP2 33
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IRF2BP2 33
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia irf2bp2 32
  • 71.14 (n)
LOC394851 32
African clawed frog
(Xenopus laevis)
Amphibia irf2bp2-A 32
zebrafish
(Danio rerio)
Actinopterygii irf2bp2a 32
  • 66.46 (n)
irf2bp2b 33
  • 58 (a)
OneToOne
wufj35c12 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8448 32
fruit fly
(Drosophila melanogaster)
Insecta CG11138 33
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-260 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IRF2BP2: view image

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 Variation AA Info Type
rs1553319504 pathogenic, IMMUNODEFICIENCY, COMMON VARIABLE, 14, Immunodeficiency, common variable, 14 (CVID14) [MIM:617765] 234,607,249(-) C/T coding_sequence_variant, missense_variant
rs4636 benign, not specified 234,608,667(-) C/A/T coding_sequence_variant, synonymous_variant
rs7543281 benign, not specified 234,607,491(-) G/A coding_sequence_variant, synonymous_variant
rs7545855 benign, not specified 234,609,263(-) A/G/T coding_sequence_variant, missense_variant
rs8722 benign, not specified 234,608,504(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant

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

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

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)

Additional Variant Information 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

(4) MalaCards diseases for IRF2BP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 14
  • cvid14
acute promyelocytic leukemia
  • apl
mesenchymal chondrosarcoma
  • chondrosarcoma mesenchymal
common variable immunodeficiency
  • acquired agammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

I2BP2_HUMAN
  • Immunodeficiency, common variable, 14 (CVID14) [MIM:617765]: A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant. {ECO:0000269 PubMed:27016798}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IRF2BP2

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

No data available for 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 56
  2. Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. (PMID: 27016798) Keller MD … Hakonarson H (The Journal of allergy and clinical immunology 2016) 3 4 56
  3. Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias. (PMID: 22247754) Murray SS … GAME Investigators (PloS one 2012) 3 43 56
  4. 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 56
  5. 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 56

Products for IRF2BP2 Gene