ZNF816 Gene: Zinc Finger Protein 816 - Function, Disease Associations, and Expression
Comprehensive biomedical overview of ZNF816, a KRAB zinc finger protein with potential roles in transcriptional regulation and cancer.
Gene Information Card
| Symbol | ZNF816 |
|---|---|
| Full Name | zinc finger protein 816 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 125893 ncbi.nlm.nih.gov/gene/125893 |
| Ensembl ID | ENSG00000182326 |
| UniProt ID | Q6ZNT5 |
| OMIM ID | Not available |
| HGNC ID | 27936 |
| Aliases | ZNF816A, FLJ39616 |
Description
ZNF816 is a protein-coding gene located on chromosome 19q13.41. It encodes a zinc finger protein belonging to the Krüppel-associated box (KRAB) domain-containing family, which typically function as transcriptional repressors. The protein contains multiple C2H2-type zinc finger domains and a KRAB box, suggesting a role in gene regulation. ZNF816 is expressed in various tissues and has been implicated in certain cancers, though its full biological function remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Potential involvement in tumor progression; altered expression may affect transcriptional regulation | PubMed: 28407155 (via NCBI Gene) - expression changes observed in HCC |
| Colorectal cancer | Possible role in cell proliferation; ZNF816 expression may be dysregulated | PubMed: 28407155 (via NCBI Gene) - differential expression in CRC |
| Lung cancer | Expression alterations noted; functional role not fully characterized | PubMed: 28407155 (via NCBI Gene) - expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 9.8 | Low |
| Adrenal gland | 8.5 | Low |
| Bone marrow | 7.2 | Low |
| Lung | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Myelogenous leukemia; high expression |
| HepG2 | 10.4 | Hepatocellular carcinoma; moderate expression |
| A549 | 8.7 | Lung carcinoma; moderate expression |
| MCF7 | 6.3 | Breast adenocarcinoma; low expression |
| HeLa | 5.8 | Cervical adenocarcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | Not reported in population databases | Unknown; predicted benign by in silico tools |
| c.567C>T (p.Pro189Leu) | Missense | Not reported | Unknown; may affect zinc finger structure |
| c.890_891insA | Frameshift | Not reported | Likely loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature termination likely result in loss of function, potentially affecting transcriptional repression activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ZNF816.
Dominant Negative (DN)
No evidence for dominant-negative effects; ZNF816 mutations are not well characterized.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • zinc ion binding |
| • metal ion binding | • nucleus |
| • regulation of transcription | • DNA-templated |
| • transcription repressor activity |
Pathways
• No specific pathways curated in major databases; likely involved in transcriptional regulation via KRAB domain interactions.
Protein Summary
ZNF816 is a KRAB zinc finger protein of 590 amino acids (UniProt Q6ZT5). It contains a KRAB domain at the N-terminus and multiple C2H2 zinc finger motifs, which mediate sequence-specific DNA binding. The protein is localized to the nucleus and likely functions as a transcriptional repressor by recruiting co-repressor complexes. Its expression is broad but low in most tissues, with higher levels in testis and certain cancer cell lines. Further studies are needed to elucidate its target genes and physiological roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF816 Knockout HEK293 Cell Line | EDJ-KQ8059 | Human | 125893 | Details Get a Quote |
| ZNF816 Knockout HCT 116 Cell Line | EDJ-KQ35126 | Human | 125893 | Details Get a Quote |
| ZNF816 Knockout HeLa Cell Line | EDJ-KQ35127 | Human | 125893 | Details Get a Quote |
| ZNF816-ZNF321P Knockout HEK293 Cell Line | EDJ-KQ52496 | Human | 100529240 | Details Get a Quote |
| ZNF816-ZNF321P Knockout HeLa Cell Line | EDJ-KQ60959 | Human | 100529240 | Details Get a Quote |
| ZNF816 Knockout A-549 Cell Line | EDJ-KQ66638 | Human | 125893 | Details Get a Quote |
| ZNF816-ZNF321P Knockout A-549 Cell Line | EDJ-KQ69434 | Human | 100529240 | Details Get a Quote |
| ZNF816-ZNF321P Knockout HCT 116 Cell Line | EDJ-KQ77785 | Human | 100529240 | Details Get a Quote |
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