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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
External Ids for IRF2BP2 Gene
- HGNC: 21729
- Entrez Gene: 359948
- Ensembl: ENSG00000168264
- OMIM: 615332
- UniProtKB: Q7Z5L9
Previous GeneCards Identifiers for IRF2BP2 Gene
- GC01U900151
- GC01M231827
- GC01M231049
- GC01M232806
- GC01M234740
- GC01M205232
Summaries 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
- HGNC(21729)
- Entrez Gene(359948)
- Ensembl(ENSG00000168264)
- OMIM(615332)
- UniProtKB(Q7Z5L9)
- Open Targets Platform(ENSG00000168264)
- Monarch Initiative
- Search for IRF2BP2 at DataMed
- Search for IRF2BP2 at HumanCyc
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 Pubs
Promoters and enhancers for IRF2BP2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRF2BP2
- 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:
-
- 1q42.3 by HGNC
- 1q42.3 by Entrez Gene
- 1q42.3 by Ensembl
IRF2BP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for IRF2BP2
- Novus Biologicals Antibodies for IRF2BP2
- Invitrogen Antibodies for IRF2BP2 (AFLGC-IRF2BP2)
Protein Products
-
OriGene Purified Proteins for IRF2BP2
- Search Origene for MassSpec and Protein Over-expression Lysates for IRF2BP2
- Origene Custom Protein Services for IRF2BP2
- Novus Biologicals proteins for IRF2BP2
- antibodies-online: Show 3 available IRF2BP2 Proteins ranked by validation data
- Compare Top IRF2BP2 Proteins
-
Quality Products:
-
Signalway Proteins for IRF2BP2
Assay Products
- antibodies-online: Show 6 available IRF2BP2 Elisa Kits ranked by validation data
- Compare Top IRF2BP2 Elisa Kits
-
Quality Products:
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
- InterPro:
- ProtoNet:
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
Q7Z5L9UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003714 | transcription corepressor activity | IDA | 12799427 |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0061630 | ubiquitin protein ligase activity | IBA | 21873635 |
Phenotypes for IRF2BP2 Gene
- MGI mutant phenotypes for IRF2BP2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for IRF2BP2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased cell number in G2M, increased nuclei size in G2M
- Decreased shRNA abundance (Z-score < -2)
- Increased IL-8 secretion
- Increased gamma-H2AX phosphorylation
- Decreased Salmonella enterica Typhimurium invasion
- Decreased Salmonella-containing vacuole maturation
- Decreased Salmonella enterica Typhimurium ruffling
- Decreased Salmonella enterica Typhimurium membrane closure
- Decreased viability
- Increased viability
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased viability with paclitaxel
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IRF2BP2 - Select products 50% OFF >
- * IRF2BP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IRF2BP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF2BP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF2BP2
miRNA for IRF2BP2 Gene
- miRTarBase miRNAs that target IRF2BP2
-
- hsa-miR-29c-3p (MIRT020363)
- hsa-miR-155-5p (MIRT020914)
- hsa-miR-103a-3p (MIRT027219)
- hsa-miR-615-3p (MIRT039969)
- hsa-miR-320a (MIRT044718)
- hsa-miR-186-5p (MIRT044960)
- hsa-miR-222-3p (MIRT046677)
- hsa-let-7c-5p (MIRT051858)
- hsa-let-7b-5p (MIRT052282)
- hsa-miR-551b-5p (MIRT064281)
- hsa-miR-153-5p (MIRT064309)
- hsa-miR-1250-3p (MIRT064313)
- hsa-miR-190a-3p (MIRT064333)
- hsa-miR-5011-5p (MIRT064341)
- hsa-miR-138-2-3p (MIRT272541)
- hsa-miR-1226-3p (MIRT337171)
- hsa-miR-4733-3p (MIRT337174)
- hsa-miR-498 (MIRT475092)
- hsa-miR-6839-3p (MIRT475093)
- hsa-miR-4507 (MIRT475094)
- hsa-miR-3940-5p (MIRT475095)
- hsa-miR-98-3p (MIRT475096)
- hsa-let-7f-1-3p (MIRT475097)
- hsa-let-7b-3p (MIRT475098)
- hsa-let-7a-3p (MIRT475099)
- hsa-miR-6892-5p (MIRT475100)
- hsa-miR-629-5p (MIRT475101)
- hsa-miR-4328 (MIRT475102)
- hsa-miR-4666a-3p (MIRT475103)
- hsa-miR-381-3p (MIRT475104)
- hsa-miR-300 (MIRT475105)
- hsa-miR-7849-3p (MIRT475106)
- hsa-miR-576-5p (MIRT522941)
- hsa-miR-4263 (MIRT522942)
- hsa-miR-29b-2-5p (MIRT522943)
- hsa-miR-3682-3p (MIRT522944)
- hsa-miR-548c-3p (MIRT522945)
- hsa-miR-6879-3p (MIRT536595)
- hsa-miR-6773-3p (MIRT536596)
- hsa-miR-3146 (MIRT536597)
- hsa-miR-4422 (MIRT536598)
- hsa-miR-6835-3p (MIRT536599)
- hsa-miR-8055 (MIRT556914)
- hsa-miR-4436b-5p (MIRT556915)
- hsa-miR-4539 (MIRT556916)
- hsa-miR-3976 (MIRT556917)
- hsa-miR-548p (MIRT556918)
- hsa-miR-4724-5p (MIRT556919)
- hsa-miR-3121-3p (MIRT556920)
- hsa-miR-4668-3p (MIRT556921)
- hsa-miR-1185-2-3p (MIRT556922)
- hsa-miR-1185-1-3p (MIRT556923)
- hsa-let-7f-2-3p (MIRT556924)
- hsa-miR-4789-5p (MIRT556925)
- hsa-miR-3618 (MIRT556926)
- hsa-miR-4716-5p (MIRT556927)
- hsa-miR-4698 (MIRT556928)
- hsa-miR-8063 (MIRT556929)
- hsa-miR-6856-3p (MIRT556930)
- hsa-miR-4446-5p (MIRT567126)
- hsa-miR-5006-3p (MIRT567127)
- hsa-miR-4755-5p (MIRT567128)
- hsa-miR-623 (MIRT567129)
- hsa-miR-6780b-3p (MIRT567130)
- hsa-miR-4780 (MIRT567131)
- hsa-miR-211-5p (MIRT567132)
- hsa-miR-204-5p (MIRT567133)
- hsa-miR-1277-5p (MIRT567134)
- hsa-miR-1261 (MIRT567135)
- hsa-miR-620 (MIRT567136)
- hsa-miR-1270 (MIRT567137)
- hsa-miR-4791 (MIRT567138)
- hsa-miR-3201 (MIRT567139)
- hsa-miR-4683 (MIRT567140)
- hsa-miR-432-5p (MIRT567141)
- hsa-miR-6514-5p (MIRT567142)
- hsa-miR-4802-5p (MIRT567143)
- hsa-miR-8076 (MIRT567144)
- hsa-miR-431-5p (MIRT567145)
- hsa-miR-501-5p (MIRT657155)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRF2BP2
- Browse OriGene Inhibitory RNA Products For IRF2BP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF2BP2
Clone Products
- Applied Biological Materials (abm): Clones for IRF2BP2 - Select products 50% OFF >
- * IRF2BP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IRF2BP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF2BP2
Cell Line Products
-
Horizon Cell Lines for IRF2BP2
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 12799427 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for IRF2BP2 Gene
Interacting Proteins for IRF2BP2 Gene
GPS-Prot Interaction Network for IRF2BP2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 12799427 |
| GO:0002327 | immature B cell differentiation | IDA | 27016798 |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0016567 | protein ubiquitination | IEA | -- |
No data available for Pathways by source for IRF2BP2 Gene
Transcripts for IRF2BP2 Gene
mRNA/cDNA for IRF2BP2 Gene
- 2 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000366609 4663 nts (view in UCSC)
- ENST00000366610 4615 nts (view in UCSC)
- ENST00000491430 683 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IRF2BP2 - Select products 50% OFF >
- * IRF2BP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IRF2BP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF2BP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF2BP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRF2BP2
- Browse OriGene Inhibitory RNA Products For IRF2BP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF2BP2
Clone Products
- Applied Biological Materials (abm): Clones for IRF2BP2 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IRF2BP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF2BP2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||
| SP2: | - | ||||||||
| SP3: |
Relevant External Links for IRF2BP2 Gene
- GeneLoc Exon Structure for
- IRF2BP2
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRF2BP2
SOURCE GeneReport for Unigene cluster for IRF2BP2 Gene:
Hs.350268Evidence on tissue expression from TISSUES for IRF2BP2 Gene
- Lung(4.7)
- Liver(4.6)
- Nervous system(4.2)
- Intestine(3.1)
- Bone marrow(3)
- Muscle(2.9)
- Kidney(2.7)
- Lymph node(2.4)
- Pancreas(2.4)
- Heart(2.4)
- Skin(2.3)
- Spleen(2.1)
- Blood(2.1)
Primer Products
-
OriGene qPCR primer pairs for IRF2BP2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IRF2BP2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IRF2BP2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IRF2BP2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Irf2bp2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Irf2bp2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | IRF2BP2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IRF2BP2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | IRF2BP2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | irf2bp2 30 |
|
||
| LOC394851 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | irf2bp2-A 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | irf2bp2a 30 |
|
||
| irf2bp2b 31 |
|
OneToOne | |||
| wufj35c12 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8448 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG11138 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | tag-260 31 |
|
OneToMany |
- Species where no ortholog for IRF2BP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Variants for IRF2BP2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRF2BP2 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636839 | Uncertain Significance: not provided | 234,608,668(-) | G/A | MISSENSE_VARIANT | |
| 636908 | Uncertain Significance: not provided | 234,608,513(-) | CCTT/C | INFRAME_DELETION | |
| 636922 | Uncertain Significance: not provided | 234,607,775(-) | CCT/C | FRAMESHIFT_VARIANT | |
| 636927 | Uncertain Significance: not provided | 234,609,143(-) | G/C | MISSENSE_VARIANT | |
| 636947 | Uncertain Significance: not provided | 234,608,536(-) | G/A | MISSENSE_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRF2BP2 Gene
Disorders for IRF2BP2 Gene
(4) MalaCards diseases for IRF2BP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency, common variable, 14 |
|
|
| acute promyelocytic leukemia |
|
|
| mesenchymal chondrosarcoma |
|
|
| common variable immunodeficiency |
|
|
Search IRF2BP2 in MalaCards
View complete list of genes associated with diseases
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
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for IRF2BP2 Gene
Publications for IRF2BP2 Gene
- Identification of novel co-repressor molecules for Interferon Regulatory Factor-2. (PMID: 12799427) Childs KS … Goodbourn S (Nucleic acids research 2003) 2 3 4
- 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
- Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias. (PMID: 22247754) Murray SS … GAME Investigators (PloS one 2012) 3 41
- 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
- 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
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