ZFP64: Zinc Finger Protein 64 – Transcriptional Regulator in Development and Cancer
Comprehensive biomedical profile of ZFP64, a C2H2-type zinc finger transcription factor with roles in stem cell differentiation, immune modulation, and oncogenic signaling.
Gene Information Card
| Symbol | ZFP64 |
|---|---|
| Full Name | Zinc finger protein 64 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 55751 ncbi.nlm.nih.gov/gene/55751 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NPA5 |
| OMIM ID | 618539 |
| HGNC ID | 12926 |
| Aliases | ZNF64, ZFP64A, ZFP64B |
Description
ZFP64 (zinc finger protein 64) encodes a C2H2-type zinc finger transcription factor that regulates gene expression by binding to specific DNA sequences. It is involved in stem cell maintenance, lineage differentiation, and immune cell function. ZFP64 has been implicated in several cancers, where it can act as an oncogene or tumor suppressor depending on context. The protein localizes to the nucleus and modulates transcriptional programs related to cell proliferation, apoptosis, and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | ZFP64 overexpression promotes leukemogenesis by activating MYC and other oncogenic pathways. | PMID: 31570776 |
| Breast cancer | ZFP64 enhances tumor growth and metastasis through transcriptional activation of WNT/β-catenin signaling. | PMID: 32694731 |
| Colorectal cancer | ZFP64 upregulation correlates with poor prognosis and drives epithelial-mesenchymal transition. | PMID: 33067383 |
| Hepatocellular carcinoma | ZFP64 promotes cell proliferation and invasion via regulation of cell cycle genes. | PMID: 31942082 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Testis | 8.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression; consistent with role in hematopoiesis |
| MCF7 (breast cancer) | 11.4 | Moderate expression; linked to oncogenic signaling |
| HepG2 (liver cancer) | 6.8 | Low expression; may reflect tissue-specific regulation |
| HEK293 (embryonic kidney) | 5.1 | Basal expression; used in functional studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Altered DNA-binding affinity; potential loss of function |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown; located in C-terminal domain |
| c.1789_1791del (p.Lys597del) | In-frame deletion | <0.01% | May affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the zinc finger domains (e.g., p.Arg335Trp) reduce DNA-binding capacity and transcriptional activity.
Gain of Function (GOF)
Amplification or overexpression of ZFP64 in cancers leads to enhanced oncogenic transcription, but no recurrent gain-of-function point mutations are documented.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ZFP64.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway
• Transcriptional regulation by ZFP64
• MYC activation in leukemia
Protein Summary
ZFP64 is a 597-amino-acid nuclear protein containing multiple C2H2-type zinc finger motifs. It functions as a sequence-specific DNA-binding transcription factor that regulates genes involved in cell proliferation, differentiation, and survival. The protein is expressed in hematopoietic tissues and is upregulated in several cancers, where it contributes to tumor progression. Post-translational modifications and interaction partners modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFP64 Knockout HEK293 Cell Line | EDJ-KQ16216 | Human | 55734 | Details Get a Quote |
| ZFP64 Knockout A-549 Cell Line | EDJ-KQ47488 | Human | 55734 | Details Get a Quote |
| ZFP64 Knockout HCT 116 Cell Line | EDJ-KQ47489 | Human | 55734 | Details Get a Quote |
| ZFP64 Knockout HeLa Cell Line | EDJ-KQ47490 | Human | 55734 | Details Get a Quote |
