IKZF2 Gene (Ikaros Family Zinc Finger 2)
Transcriptional regulator in hematopoiesis and immune cell development
Gene Information Card
| Symbol | IKZF2 |
|---|---|
| Full Name | IKAROS Family Zinc Finger 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q34 |
| NCBI Gene ID | 22807 ncbi.nlm.nih.gov/gene/22807 |
| Ensembl ID | ENSG00000130475 |
| UniProt ID | Q9UKS6 |
| OMIM ID | 606234 |
| HGNC ID | 13177 |
| Aliases | Helios, ZNFN1A2, ANK1 |
Description
IKZF2 encodes Helios, a member of the Ikaros family of zinc-finger transcription factors. Helios is predominantly expressed in hematopoietic cells, particularly in T lymphocytes, and plays a critical role in regulating lymphoid development, differentiation, and immune homeostasis. It functions as both a transcriptional repressor and activator, influencing cell fate decisions and preventing autoimmunity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | IKZF2 deletions or mutations disrupt normal lymphoid differentiation, contributing to leukemogenesis. | NCBI Gene, COSMIC |
| T-cell acute lymphoblastic leukemia (T-ALL) | Helios overexpression or aberrant splicing alters T-cell development and promotes oncogenic signaling. | COSMIC, ClinVar |
| Autoimmune lymphoproliferative syndrome (ALPS) | Loss-of-function variants impair immune regulation, leading to lymphoproliferation and autoimmunity. | OMIM, ClinVar |
| Immunodeficiency | IKZF2 mutations cause defective T-cell maturation and reduced immune response. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Thymus | 15.3 | High |
| Blood (whole) | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 18.4 | High expression |
| K562 (erythroleukemia) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not expressed |
| Raji (Burkitt lymphoma) | 6.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37*) | Nonsense | <1% | Loss of function; truncated protein |
| c.458_459del (p.Glu153fs) | Frameshift | <1% | Loss of function; protein instability |
| c.1124G>A (p.Arg375Gln) | Missense | <1% | Altered DNA binding; potential gain of function |
| Whole gene deletion | Copy number loss | Rare | Loss of heterozygosity; associated with ALL |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and whole gene deletions impair Helios transcriptional activity, leading to defective T-cell development and immune dysregulation.
Gain of Function (GOF)
Missense mutations in the DNA-binding domain (e.g., p.Arg375Gln) may enhance repressor activity, contributing to T-ALL.
Dominant Negative (DN)
Truncating mutations that retain dimerization domains can interfere with wild-type Ikaros family members, disrupting normal transcriptional networks.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ikaros family transcription factor pathway
• Hematopoietic cell lineage
• T-cell receptor signaling pathway
• Notch signaling (cross-regulation)
Protein Summary
Helios (IKZF2) is a 591-amino acid zinc-finger transcription factor with N-terminal DNA-binding domains and C-terminal dimerization domains. It forms homo- and heterodimers with other Ikaros family members, binding to target gene promoters to regulate chromatin remodeling and gene expression. Helios is essential for the development and function of regulatory T cells (Tregs) and natural killer (NK) cells, and its dysregulation is implicated in hematologic malignancies and immune disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IKZF2 Knockout HEK293 Cell Line | EDJ-KQ7680 | Human | 22807 | Details Get a Quote |
| IKZF2 Knockout HeLa Cell Line | EDJ-KQ33034 | Human | 22807 | Details Get a Quote |
| IKZF2 Knockout A-549 Cell Line | EDJ-KQ64139 | Human | 22807 | Details Get a Quote |
| IKZF2 Knockout HCT 116 Cell Line | EDJ-KQ72586 | Human | 22807 | Details Get a Quote |
