ZNF264: Zinc Finger Protein 264
A Krüppel-associated box (KRAB) domain-containing zinc finger transcription factor involved in transcriptional regulation and implicated in cancer and developmental processes.
Gene Information Card
| Symbol | ZNF264 |
|---|---|
| Full Name | zinc finger protein 264 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 9422 ncbi.nlm.nih.gov/gene/9422 |
| Ensembl ID | ENSG00000105647 |
| UniProt ID | O43296 |
| OMIM ID | 604628 |
| HGNC ID | 13055 |
| Aliases | KIAA0415, ZNF264_HUMAN |
Description
ZNF264 (zinc finger protein 264) is a protein-coding gene located on chromosome 19q13.43. It encodes a member of the Krüppel-associated box (KRAB) domain-containing zinc finger protein family, which functions as a transcriptional repressor. The protein contains multiple C2H2-type zinc finger domains and a KRAB domain, mediating sequence-specific DNA binding and recruitment of co-repressor complexes. ZNF264 is involved in regulating gene expression during development and cellular differentiation, and its dysregulation has been associated with various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of ZNF264 may promote cell proliferation through transcriptional repression of tumor suppressor genes. | COSMIC; PMID: 25691885 |
| Colorectal cancer | ZNF264 upregulation correlates with poor prognosis and may drive epithelial-mesenchymal transition. | COSMIC; PMID: 30150772 |
| Neurodevelopmental disorders | Rare missense variants in ZNF264 have been identified in patients with intellectual disability and autism spectrum disorder. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Not detected |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.7 | Embryonic kidney cell line; moderate expression |
| HeLa | 7.4 | Cervical carcinoma; low expression |
| K562 | 6.2 | Leukemia cell line; low expression |
| MCF7 | 11.3 | Breast cancer cell line; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Alters zinc finger domain; potential loss of DNA binding |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Located in linker region; functional impact unknown |
| c.1873_1874insA (p.Thr625Asnfs*12) | Frameshift | <0.01% | Predicted loss-of-function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay are classified as loss-of-function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ZNF264.
Dominant Negative (DN)
No evidence for dominant-negative effects; most mutations are heterozygous missense with unclear mechanism.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • zinc ion binding (GO:0008270) |
| • nucleus (GO:0005634) | • regulation of transcription by RNA polymerase II (GO:0006357) |
| • negative regulation of transcription (GO:0016481) |
Pathways
• KRAB-ZNF transcriptional repression pathway
• Gene expression (Reactome: R-HSA-212436)
Protein Summary
Zinc finger protein 264 (UniProt O43296) is a 748-amino acid nuclear protein containing a KRAB domain at the N-terminus and 13 C2H2-type zinc finger motifs. It binds to specific DNA sequences and recruits co-repressors such as KAP1/TRIM28 to silence target genes. The protein is expressed in multiple tissues, with highest levels in testis and certain cancer cell lines. Post-translational modifications include phosphorylation and ubiquitination, which may regulate its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF264 Knockout HEK293 Cell Line | EDJ-KQ6588 | Human | 9422 | Details Get a Quote |
| ZNF264 Knockout HCT 116 Cell Line | EDJ-KQ29465 | Human | 9422 | Details Get a Quote |
| ZNF264 Knockout A-549 Cell Line | EDJ-KQ30809 | Human | 9422 | Details Get a Quote |
| ZNF264 Knockout HeLa Cell Line | EDJ-KQ30810 | Human | 9422 | Details Get a Quote |
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