IKZF3 IKAROS family zinc finger 3
Gene ID: 22806, updated on 5-Mar-2024Gene type: protein coding
Also known as: AIO; IMD84; AIOLOS; ZNFN1A3
- See all available tests in GTR for this gene
- Go to complete Gene record for IKZF3
- Go to Variation Viewer for IKZF3 variants
Summary
This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. GeneReviews: Not available | |
| A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. GeneReviews: Not available | |
| Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. GeneReviews: Not available | |
| Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Immunodeficiency 84 | not available |
| Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. GeneReviews: Not available | |
| Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. GeneReviews: Not available |
Genomic context
- Location:
- 17q12-q21.1
- Sequence:
- Chromosome: 17; NC_000017.11 (39757715..39864312, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IKZF3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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.