ZNF717: Zinc Finger Protein 717
A KRAB-Zinc Finger Gene with Potential Roles in Transcriptional Regulation and Disease
Gene Information Card
| Symbol | ZNF717 |
|---|---|
| Full Name | zinc finger protein 717 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p12.3 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000188610 |
| UniProt ID | Q9BYW2 |
| OMIM ID | 618835 |
| HGNC ID | 27894 |
| Aliases | FLJ32709, MGC138290, MGC138291 |
Description
ZNF717 (zinc finger protein 717) is a protein-coding gene located on chromosome 3p12.3. It belongs to the Krüppel-associated box (KRAB) zinc finger protein family, which typically function as transcriptional repressors via recruitment of chromatin-modifying complexes. ZNF717 contains multiple C2H2-type zinc finger domains and a KRAB domain at the N-terminus. The gene is expressed in various tissues and has been implicated in cellular differentiation and cancer biology, though its precise physiological roles remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Upregulation of ZNF717 may promote tumor growth through transcriptional dysregulation | PMID: 30523342 |
| Colorectal cancer | Altered expression associated with poor prognosis; potential oncogenic role | PMID: 31598418 |
| Gastric cancer | Overexpression linked to increased cell proliferation and migration | PMID: 32015563 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Prostate | 6.1 | Low |
| Lung | 4.3 | Low |
| Liver | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.8 | Hepatocellular carcinoma cell line |
| A549 | 4.1 | Lung adenocarcinoma cell line |
| MCF7 | 3.2 | Breast cancer cell line |
| K562 | 2.5 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Cys) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.1456G>A (p.Gly486Ser) | Missense | 0.002% (gnomAD) | Predicted benign |
| c.1789_1790insA | Frameshift | <0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1789_1790insA) are predicted to cause premature truncation and loss of zinc finger domains, impairing DNA-binding and transcriptional repression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Not assigned to any curated pathway in Reactome or KEGG
Protein Summary
ZNF717 encodes a KRAB zinc finger protein of 647 amino acids. The protein contains an N-terminal KRAB domain (residues 1-75) and 14 C2H2-type zinc finger motifs (residues 100-600). It localizes to the nucleus and is predicted to bind specific DNA sequences to repress transcription via recruitment of histone deacetylases and other chromatin modifiers. Structural modeling suggests a compact conformation with zinc fingers arranged in a helical array. Post-translational modifications include phosphorylation at serine residues, though functional significance is unclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF717 Knockout HEK293 Cell Line | EDJ-KQ966 | Human | 100131827 | Details Get a Quote |
| ZNF717 Knockout HeLa Cell Line | EDJ-KQ19971 | Human | 100131827 | Details Get a Quote |
| ZNF717 Knockout A-549 Cell Line | EDJ-KQ18647 | Human | 100131827 | Details Get a Quote |
| ZNF717 Knockout HCT 116 Cell Line | EDJ-KQ77652 | Human | 100131827 | Details Get a Quote |
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