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    IRF2BP2 interferon regulatory factor 2 binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 359948, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IRF2BP2provided by HGNC
    Official Full Name
    interferon regulatory factor 2 binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:21729
    See related
    Ensembl:ENSG00000168264 MIM:615332; AllianceGenome:HGNC:21729
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CVID14
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 91.3), thyroid (RPKM 43.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IRF2BP2 in Genome Data Viewer
    Location:
    1q42.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (234604269..234610178, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (233994665..234000583, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (234740015..234745924, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985465 Neighboring gene NFE2L2 motif-containing MPRA enhancer 72 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:234724436-234724936 Neighboring gene U8 small nucleolar RNA Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:234735097-234735610 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:234735611-234736124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1978 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:234745399-234746096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2763 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:234752429-234752929 Neighboring gene long intergenic non-protein coding RNA 184 Neighboring gene Sharpr-MPRA regulatory region 10666 Neighboring gene uncharacterized LOC101927787 Neighboring gene uncharacterized LOC105373207

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel frameshift variants expand the map of the genetic defects in IRF2BP2. García-Aznar JM, et al. Front Immunol, 2023. PMID 37876937, Free PMC Article
    2. Novel hypermorphic variants in IRF2BP2 identified in patients with common variable immunodeficiency and autoimmunity. Anim M, et al. Clin Immunol, 2024 Sep. PMID 39059757
    3. Identification of a novel pathway that selectively modulates apoptosis of breast cancer cells. Tinnikov AA, et al. Cancer Res, 2009 Feb 15. PMID 19190336, Free PMC Article
    4. Identification of a phosphorylation-dependent nuclear localization motif in interferon regulatory factor 2 binding protein 2. Teng AC, et al. PLoS One, 2011. PMID 21887377, Free PMC Article
    5. Super-enhancer-driven IRF2BP2 enhances ALK activity and promotes neuroblastoma cell proliferation. Chen Y, et al. Neuro Oncol, 2024 Oct 3. PMID 38864832,

    See all (91) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Super-enhancer-driven IRF2BP2 enhances ALK activity and promotes neuroblastoma cell proliferation.
      Title: Super-enhancer-driven IRF2BP2 enhances ALK activity and promotes neuroblastoma cell proliferation.
    2. Novel hypermorphic variants in IRF2BP2 identified in patients with common variable immunodeficiency and autoimmunity.
      Title: Novel hypermorphic variants in IRF2BP2 identified in patients with common variable immunodeficiency and autoimmunity.
    3. Novel frameshift variants expand the map of the genetic defects in IRF2BP2.
      Title: Novel frameshift variants expand the map of the genetic defects in IRF2BP2.
    4. LncRNA ATP1A1-AS1 inhibits cell proliferation and promotes cell apoptosis in thyroid carcinoma by regulating the miR-620/IRF2BP2 axis.
      Title: LncRNA ATP1A1-AS1 inhibits cell proliferation and promotes cell apoptosis in thyroid carcinoma by regulating the miR-620/IRF2BP2 axis.
    5. A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!
      Title: A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!
    6. Down-regulation of interferon regulatory factor 2 binding protein 2 suppresses gastric cancer progression by negatively regulating connective tissue growth factor.
      Title: Down-regulation of interferon regulatory factor 2 binding protein 2 suppresses gastric cancer progression by negatively regulating connective tissue growth factor.
    7. The expression of interferon regulatory protein 2-binding protein 2 (IRF2BP2), a regulator of KLF2, suppressed osteoclast differentiation and enhanced osteoblast differentiation and function.
      Title: The IRF2BP2-KLF2 axis regulates osteoclast and osteoblast differentiation.
    8. findings showed that the IRF2BP2-RARalpha fusion has the capacity to transform primary hematopoietic stem/progenitor cells and induced an ATRA-responsive acute promyelocytic leukemia (APL); this provides further evidence that formation of RARA fusion genes represent disease-defining mutations in APL pathogenesis
      Title: The cryptic IRF2BP2-RARA fusion transforms hematopoietic stem/progenitor cells and induces retinoid-sensitive acute promyelocytic leukemia.
    9. A novel IRFBP2 mutation was identified in a family with autosomal dominant CVID. Transduction experiments suggest that the mutant protein has an effect on B-cell differentiation and is likely a monogenic cause of the family's CVID phenotype.
      Title: Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.
    10. ETO2 and IRF2BP2 interacting with the NCOR1/SMRT co-repressor complex, suppresses the expression of erythroid genes until erythroid differentiation.
      Title: Control of developmentally primed erythroid genes by combinatorial co-repressor actions.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Immunodeficiency, common variable, 14
    MedGen: C4540380 OMIM: 617765 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC72189

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immature B cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    interferon regulatory factor 2-binding protein 2
    Names
    IRF-2-binding protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001077397.1 → NP_001070865.1  interferon regulatory factor 2-binding protein 2 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform B).
      Source sequence(s)
      AY278024, BC020516, BE408503, CD640986
      Consensus CDS
      CCDS41475.1
      UniProtKB/Swiss-Prot
      Q7Z5L9
      Related
      ENSP00000355569.3, ENST00000366610.8
      Conserved Domains (1) summary
      pfam11261
      Location:12 → 63
      IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger

    2. NM_182972.3 → NP_892017.2  interferon regulatory factor 2-binding protein 2 isoform A

      See identical proteins and their annotated locations for NP_892017.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AL160408, AL161640
      Consensus CDS
      CCDS1602.1
      UniProtKB/Swiss-Prot
      B1AM35, B1AM36, Q6P083, Q7Z5L8, Q7Z5L9, Q8N351, Q8WUH8
      Related
      ENSP00000355568.3, ENST00000366609.4
      Conserved Domains (1) summary
      pfam11261
      Location:12 → 63
      IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      234604269..234610178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      233994665..234000583 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5L9.2 GenPept UniProtKB/Swiss-Prot:Q7Z5L9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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