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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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!
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.
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.
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.
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.
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	not available

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed

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

IRF2BP2 (e-PCR)
- UniSTS:503049

WI-20983 (e-PCR)
- UniSTS:26146

STS-N69419 (e-PCR)
- UniSTS:65831

RH67922 (e-PCR)
- UniSTS:70733

SHGC-76582 (e-PCR)
- UniSTS:6501

RH70773 (e-PCR)
- UniSTS:87451

D1S3579 (e-PCR)
- UniSTS:12245

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)

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
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