ZNF716: Zinc Finger Protein 716
A KRAB-Zinc Finger Protein with Potential Roles in Transcriptional Regulation and Genomic Stability
Gene Information Card
| Symbol | ZNF716 |
|---|---|
| Full Name | zinc finger protein 716 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 441294 ncbi.nlm.nih.gov/gene/441294 |
| Ensembl ID | ENSG00000182256 |
| UniProt ID | Q6ZNF0 |
| OMIM ID | 619760 |
| HGNC ID | 28082 |
| Aliases | FLJ39616, MGC138696 |
Description
ZNF716 (zinc finger protein 716) is a protein-coding gene located on chromosome 7p22.1. It belongs to the Krüppel-associated box (KRAB) zinc finger protein family, which typically function as transcriptional repressors. The encoded protein contains multiple C2H2-type zinc finger domains and a KRAB domain, suggesting a role in regulating gene expression through chromatin remodeling or direct DNA binding. ZNF716 is expressed in various tissues, with notable levels in the testis and brain. Its precise biological functions and disease associations are under investigation, though some studies implicate it in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential transcriptional dysregulation; altered expression observed in tumor samples | COSMIC; limited functional studies |
| Intellectual disability (candidate) | Chromosomal rearrangements at 7p22.1 may disrupt ZNF716 | ClinVar; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 3.2 | Not detected |
| Heart | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| K562 | 7.2 | Low expression |
| HeLa | 4.5 | Low expression |
| HepG2 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Protein Summary
ZNF716 is a 548-amino acid protein containing a KRAB domain at the N-terminus and 11 C2H2-type zinc finger motifs. The KRAB domain mediates transcriptional repression by recruiting co-repressors such as KAP1/TRIM28, while the zinc fingers facilitate sequence-specific DNA binding. The protein is predicted to localize to the nucleus and may regulate genes involved in cell differentiation and development. Structural studies are limited, and no 3D structure has been solved experimentally.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF716 Knockout HEK293 Cell Line | EDJ-KQ16339 | Human | 441234 | Details Get a Quote |
| ZNF716 Knockout HeLa Cell Line | EDJ-KQ60417 | Human | 441234 | Details Get a Quote |
| ZNF716 Knockout A-549 Cell Line | EDJ-KQ68884 | Human | 441234 | Details Get a Quote |
| ZNF716 Knockout HCT 116 Cell Line | EDJ-KQ77245 | Human | 441234 | Details Get a Quote |
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