ZNF516: Zinc Finger Protein 516
Transcriptional regulator implicated in cancer and development
Gene Information Card
| Symbol | ZNF516 |
|---|---|
| Full Name | zinc finger protein 516 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q23 |
| NCBI Gene ID | 9658 ncbi.nlm.nih.gov/gene/9658 |
| Ensembl ID | ENSG00000101493 |
| UniProt ID | Q92618 |
| OMIM ID | 616642 |
| HGNC ID | 29098 |
| Aliases | KIAA0222, Zfp516 |
Description
ZNF516 encodes a zinc finger protein that functions as a transcriptional repressor. It contains multiple C2H2-type zinc finger domains and is involved in regulating cell proliferation, differentiation, and apoptosis. The protein interacts with histone deacetylases and other chromatin modifiers to modulate gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ZNF516 acts as a tumor suppressor; loss of expression promotes proliferation and metastasis | PMID: 25910212 |
| Colorectal cancer | Downregulation of ZNF516 correlates with poor prognosis and increased invasion | PMID: 27507728 |
| Hepatocellular carcinoma | ZNF516 suppresses tumor growth by repressing Wnt/β-catenin signaling | PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Breast | 9.7 | Low |
| Colon | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 10.2 | Moderate expression |
| HepG2 (liver cancer) | 5.8 | Low expression |
| A549 (lung cancer) | 7.1 | Low expression |
| HEK293 (embryonic kidney) | 15.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.1% | Loss of function; premature stop |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking zinc finger domains, impairing transcriptional repression.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (negative regulation)
• p53 signaling pathway (modulation)
• Chromatin remodeling (via HDAC interaction)
Protein Summary
ZNF516 is a 1,174-amino-acid nuclear protein containing 16 C2H2-type zinc finger domains. It functions as a transcriptional repressor by recruiting histone deacetylases to target gene promoters. The protein is widely expressed in normal tissues and is frequently downregulated in various cancers, suggesting a tumor-suppressive role. ZNF516 regulates genes involved in cell cycle, apoptosis, and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF516 Knockout HEK293 Cell Line | EDJ-KQ6682 | Human | 9658 | Details Get a Quote |
| ZNF516 Knockout HCT 116 Cell Line | EDJ-KQ31018 | Human | 9658 | Details Get a Quote |
| ZNF516 Knockout A-549 Cell Line | EDJ-KQ29659 | Human | 9658 | Details Get a Quote |
| ZNF516 Knockout HeLa Cell Line | EDJ-KQ55220 | Human | 9658 | Details Get a Quote |
