IKZF2 (IKAROS family zinc finger 2)
2007-04-01 Rupa Sridharan , Stephen Smale AffiliationRoom 6730 MacDonald Research Laboratories, Howard Hughes Medical Institute, 675 Charles Young Drive South, University of California, Los Angeles, CA 90095-1662, USA.
Identity
HGNC
LOCATION
2q34
LOCUSID
ALIAS
ANF1A2,HELIOS,ZNF1A2,ZNFN1A2
FUSION GENES
DNA/RNA
Description
143kb encoding 7 exons.
Transcription
12kb transcript, alternatively spliced to give two predominant isoforms.
Proteins
Note
526 amino acids. Mouse protein migrates at 70kD.
Helios with the zinc finger domain shown as blocks and the exon junctions in black lines.
Description
Largest isoform contains four N-terminal zinc fingers used for DNA binding and two C terminal zinc fingers for homodimerization and heterodimerization with other Ikaros family members.
Expression
Largely restricted to the thymus. In mice, besides thymocytes and T cells, low levels are found in proB cells and bone marrow multipotent progenitors.
Localisation
Nuclear. Often localizes to the pericentric heterochromatin as punctate spots in cycling cells, with diffuse nuclear localization in non-cycling cells.
Function
Helios is thought to be important for T cell development and may function as a repressor of transcription. However, Helios mutant mice have not been reported. In mice, Helios can recruit the NuRD chromatin remodeling complex to the pericentric heterochromatin.
Homology
High level of identity to Ikaros over the zinc finger domains.
Implicated in
Entity name
Leukemia
Note
Shorter isoforms of Helios are expressed in certain human leukemias. They may function as dominant negative inhibitors of full-length proteins due to the lack of DNA binding domain. However, dominant negative functions have not been demonstrated experimentally.
Entity name
Lymphoma
Note
Overexpression of Helios in B cells of mice promotes lymphomagenesis. Overexpression of a DNA binding mutant in hematopoietic progenitors leads to aggressive and transplantable T cell lymphomas in 60% of the mice.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16148093 | 2005 | Transgenic expression of Helios in B lineage cells alters B cell properties and promotes lymphomagenesis. | Dovat S et al |
| 9512513 | 1998 | Helios, a T cell-restricted Ikaros family member that quantitatively associates with Ikaros at centromeric heterochromatin. | Hahm K et al |
| 10541817 | 1999 | Human Helios, an Ikaros-related zinc finger DNA binding protein: cDNA cloning and tissue expression pattern. | Hosokawa Y et al |
| 9560339 | 1998 | Helios, a novel dimerization partner of Ikaros expressed in the earliest hematopoietic progenitors. | Kelley CM et al |
| 11937265 | 2002 | Overexpression of novel short isoforms of Helios in a patient with T-cell acute lymphoblastic leukemia. | Nakase K et al |
| 17110463 | 2007 | Expression of a non-DNA-binding isoform of Helios induces T-cell lymphoma in mice. | Zhang Z et al |
Other Information
Locus ID:
NCBI: 22807
MIM: 606234
HGNC: 13177
Ensembl: ENSG00000030419
Variants:
dbSNP: 22807
ClinVar: 22807
TCGA: ENSG00000030419
COSMIC: IKZF2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36510022 | 2023 | Aging-associated HELIOS deficiency in naive CD4(+) T cells alters chromatin remodeling and promotes effector cell responses. | 14 |
| 36738680 | 2023 | Decreased frequency of regulatory T cells and level of helios gene expression in secondary progressive multiple sclerosis patients: Evidence about the development of multiple sclerosis. | 1 |
| 37316189 | 2023 | Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. | 2 |
| 37996909 | 2023 | Temporal changes in regulatory T cell subsets defined by the transcription factor Helios in stroke and their potential role in stroke-associated infection: a prospective case-control study. | 0 |
| 36510022 | 2023 | Aging-associated HELIOS deficiency in naive CD4(+) T cells alters chromatin remodeling and promotes effector cell responses. | 14 |
| 36738680 | 2023 | Decreased frequency of regulatory T cells and level of helios gene expression in secondary progressive multiple sclerosis patients: Evidence about the development of multiple sclerosis. | 1 |
| 37316189 | 2023 | Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. | 2 |
| 37996909 | 2023 | Temporal changes in regulatory T cell subsets defined by the transcription factor Helios in stroke and their potential role in stroke-associated infection: a prospective case-control study. | 0 |
| 34561855 | 2022 | Helios is a marker, not a driver, of human Treg stability. | 25 |
| 34920454 | 2022 | Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation. | 14 |
| 34981715 | 2022 | Expression of Programmed Cell Death 1 and Helios Genes Correlates With rs872071A>G and rs12203592C>T Single-Nucleotide Polymorphisms of InterferonRegulatory Factor 4 in Patients with T-Cell-Mediated Rejection of Renal Allograft. | 0 |
| 35651622 | 2022 | Co-Expression of TIGIT and Helios Marks Immunosenescent CD8(+) T Cells During Aging. | 5 |
| 34561855 | 2022 | Helios is a marker, not a driver, of human Treg stability. | 25 |
| 34920454 | 2022 | Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation. | 14 |
| 34981715 | 2022 | Expression of Programmed Cell Death 1 and Helios Genes Correlates With rs872071A>G and rs12203592C>T Single-Nucleotide Polymorphisms of InterferonRegulatory Factor 4 in Patients with T-Cell-Mediated Rejection of Renal Allograft. | 0 |
Citation
Rupa Sridharan ; Stephen Smale
IKZF2 (IKAROS family zinc finger 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/42885/ikzf2-(ikaros-family-zinc-finger-2)
