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

Gene ID: 359948, updated on 3-Mar-2019

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
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

Genomic context

See IRF2BP2 in Genome Data Viewer
Location:
1q42.3
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (234604269..234609525, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (234740015..234745271, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985465 Neighboring gene NFE2L2 motif-containing MPRA enhancer 72 Neighboring gene long intergenic non-protein coding RNA 184 Neighboring gene uncharacterized LOC101927787 Neighboring gene uncharacterized LOC105373207

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
IMMUNODEFICIENCY, COMMON VARIABLE, 14
MedGen: C4540380 OMIM: 617765 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC72189

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
immature B cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001077397.1NP_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, ENST00000366610.7
    Conserved Domains (1) summary
    pfam11261
    Location:1263
    IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger
  2. NM_182972.2NP_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)
    AY278023, BC020516, BE408503, CD640986
    Consensus CDS
    CCDS1602.1
    UniProtKB/Swiss-Prot
    Q7Z5L9
    Related
    ENSP00000355568.3, ENST00000366609.3
    Conserved Domains (1) summary
    pfam11261
    Location:1263
    IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    234604269..234609525 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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