IRF2BP2 interferon regulatory factor 2 binding protein 2
Gene ID: 359948, updated on 5-Mar-2024Gene type: protein coding
Also known as: CVID14
- See all available tests in GTR for this gene
- Go to complete Gene record for IRF2BP2
- Go to Variation Viewer for IRF2BP2 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias. GeneReviews: Not available | |
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available | |
Immunodeficiency, common variable, 14 | See labs |
Genomic context
- Location:
- 1q42.3
- Sequence:
- Chromosome: 1; NC_000001.11 (234604269..234610178, complement)
- Total number of exons:
- 2
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for IRF2BP2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- SNP: GeneViewSNPs linked from GeneView
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.