IKZF4: Ikaros Family Zinc Finger Protein 4
A transcriptional regulator in immune cell development and cancer
Gene Information Card
| Symbol | IKZF4 |
|---|---|
| Full Name | IKZF4 Ikaros family zinc finger protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 64375 ncbi.nlm.nih.gov/gene/64375 |
| Ensembl ID | ENSG00000111276 |
| UniProt ID | Q9H2S9 |
| OMIM ID | 606239 |
| HGNC ID | 5916 |
| Aliases | Eos, ZNFN1A4, ZFPN1A4 |
Description
IKZF4 (Ikaros family zinc finger protein 4), also known as Eos, is a member of the Ikaros family of zinc finger transcription factors. It plays a critical role in lymphocyte development, particularly in the regulation of T-cell differentiation and function. IKZF4 binds to specific DNA sequences to repress or activate gene expression, influencing immune homeostasis and hematopoiesis. Alterations in IKZF4 have been implicated in autoimmune diseases and hematologic malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | IKZF4 deletions or mutations disrupt normal lymphoid differentiation, contributing to leukemogenesis | COSMIC, ClinVar |
| Autoimmune thyroid disease | IKZF4 polymorphisms associated with increased risk, possibly via altered T-cell regulation | OMIM, NCBI |
| Multiple sclerosis | Genetic variants in IKZF4 linked to susceptibility, affecting immune cell function | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Thymus | 7.6 | Low |
| Whole blood | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.2 | High expression |
| Raji (Burkitt lymphoma) | 9.8 | Moderate expression |
| K562 (chronic myeloid leukemia) | 6.1 | Low expression |
| HEK293 (embryonic kidney) | 2.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon, likely loss of function |
| c.1000C>T (p.Arg334Trp) | Missense | 0.01% | Altered DNA binding, potential dominant-negative effect |
| Deletion of exon 4-6 | Deletion | 0.5% in ALL | Frameshift, loss of zinc finger domains, loss of function |
Mutation functional classification
Loss of Function (LOF)
Deletions or nonsense mutations that truncate the protein or disrupt zinc finger domains impair transcriptional repression activity.
Gain of Function (GOF)
Not well documented; no common gain-of-function mutations reported in IKZF4.
Dominant Negative (DN)
Missense mutations in the DNA-binding domain (e.g., Arg334Trp) may interfere with wild-type IKZF4 function by forming non-functional dimers.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hematopoietic cell lineage (KEGG hsa04640)
• Th17 cell differentiation (KEGG hsa04659)
• Transcriptional misregulation in cancer (KEGG hsa05202)
Protein Summary
IKZF4 (Eos) is a 509-amino acid zinc finger transcription factor that localizes to the nucleus. It contains N-terminal zinc finger domains for DNA binding and C-terminal domains for dimerization and interaction with chromatin remodeling complexes. IKZF4 primarily acts as a transcriptional repressor, regulating genes involved in T-cell development and immune tolerance. Its expression is enriched in lymphoid tissues and hematopoietic cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IKZF4 Knockout HEK293 Cell Line | EDJ-KQ13821 | Human | 64375 | Details Get a Quote |
| IKZF4 Knockout HeLa Cell Line | EDJ-KQ42372 | Human | 64375 | Details Get a Quote |
| IKZF4 Knockout A-549 Cell Line | EDJ-KQ43642 | Human | 64375 | Details Get a Quote |
| IKZF4 Knockout HCT 116 Cell Line | EDJ-KQ43643 | Human | 64375 | Details Get a Quote |
