ZNF224: Zinc Finger Protein 224
Transcriptional repressor involved in hematopoiesis and cancer
Gene Information Card
| Symbol | ZNF224 |
|---|---|
| Full Name | zinc finger protein 224 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 7767 ncbi.nlm.nih.gov/gene/7767 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q9NZL3 |
| OMIM ID | 604423 |
| HGNC ID | 13035 |
| Aliases | BMZF-2, KOX10, ZNF233, ZNF255, ZNF27 |
Description
ZNF224 (zinc finger protein 224) is a protein-coding gene located on chromosome 19q13.41. It encodes a Krüppel-associated box (KRAB) domain-containing zinc finger transcription factor that functions primarily as a transcriptional repressor. ZNF224 is involved in the regulation of hematopoiesis, cell differentiation, and apoptosis. It has been implicated in the pathogenesis of multiple myeloma, acute myeloid leukemia, and other cancers through its interaction with WT1 and other partners.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple myeloma | ZNF224 acts as a co-repressor of WT1, modulating apoptosis and cell cycle genes | PMID: 17938250 |
| Acute myeloid leukemia | Dysregulated expression contributes to leukemogenesis via transcriptional repression of tumor suppressors | PMID: 21536682 |
| Breast cancer | ZNF224 overexpression correlates with poor prognosis and promotes proliferation | PMID: 25670082 |
| Colorectal cancer | Epigenetic silencing of ZNF224 is associated with tumor progression | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lymph node | 6.7 | Low |
| Testis | 15.2 | Medium |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 18.4 | High expression |
| HEK293 (embryonic kidney) | 5.2 | Moderate |
| MCF7 (breast cancer) | 9.8 | Elevated |
| U2OS (osteosarcoma) | 3.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Altered DNA-binding affinity |
| c.1327G>A (p.Glu443Lys) | Missense | <0.01% | Unknown functional impact |
| c.1567_1568insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of repressor activity.
Gain of Function (GOF)
Not well documented; some missense variants may enhance repressor activity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• WT1 signaling pathway
• Apoptosis modulation
• Transcriptional repression by KRAB zinc finger proteins
Protein Summary
ZNF224 is a 707-amino acid protein containing a KRAB domain at the N-terminus and 19 C2H2-type zinc finger motifs. It localizes to the nucleus and represses transcription by recruiting chromatin-modifying complexes. It interacts with WT1 and other transcription factors to regulate genes involved in cell cycle, apoptosis, and differentiation. Altered expression or function of ZNF224 is linked to hematological malignancies and solid tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF224 Knockout HEK293 Cell Line | EDJ-KQ6108 | Human | 7767 | Details Get a Quote |
| ZNF224 Knockout HCT 116 Cell Line | EDJ-KQ28549 | Human | 7767 | Details Get a Quote |
| ZNF224 Knockout A-549 Cell Line | EDJ-KQ29849 | Human | 7767 | Details Get a Quote |
| ZNF224 Knockout HeLa Cell Line | EDJ-KQ29851 | Human | 7767 | Details Get a Quote |
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