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

Gene ID: 359948, updated on 2-Nov-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
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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 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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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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
Compare labs

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 Variation Viewer (GRCh37.p13)

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

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