IKZF1 IKAROS family zinc finger 1
Gene ID: 10320, updated on 10-Mar-2024Gene type: protein coding
Also known as: IK1; LYF1; LyF-1; CVID13; IKAROS; PPP1R92; PRO0758; ZNFN1A1; Hs.54452
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- Go to complete Gene record for IKZF1
- Go to Variation Viewer for IKZF1 variants
Summary
This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]
Associated conditions
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Description | Tests |
---|---|
Confirmation of Childhood Acute Lymphoblastic Leukemia Variants, ARID5B and IKZF1, and Interaction with Parental Environmental Exposures. GeneReviews: Not available | |
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. GeneReviews: Not available | |
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
Germline genomic variants associated with childhood acute lymphoblastic leukemia. GeneReviews: Not available | |
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. GeneReviews: Not available | |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. GeneReviews: Not available | |
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. GeneReviews: Not available | |
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. GeneReviews: Not available | |
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GeneReviews: Not available | |
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. GeneReviews: Not available | |
Pancytopenia due to IKZF1 mutations | See labs |
Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available | |
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. GeneReviews: Not available |
Genomic context
- Location:
- 7p12.2
- Sequence:
- Chromosome: 7; NC_000007.14 (50303455..50405101)
- Total number of exons:
- 17
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for IKZF1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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