ZNF714: Zinc Finger Protein 714
A KRAB-ZNF transcription factor with potential roles in gene regulation and disease
Gene Information Card
| Symbol | ZNF714 |
|---|---|
| Full Name | Zinc Finger Protein 714 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 148206 ncbi.nlm.nih.gov/gene/148206 |
| Ensembl ID | ENSG00000184937 |
| UniProt ID | Q96PQ0 |
| OMIM ID | 618775 |
| HGNC ID | 26980 |
| Aliases | FLJ32942, MGC138499 |
Description
ZNF714 encodes a zinc finger protein of the Krüppel-associated box (KRAB) zinc finger family. These proteins typically function as transcription regulators, often repressing gene expression through recruitment of chromatin-modifying complexes. ZNF714 is located on chromosome 19q13.43, a region rich in zinc finger genes. Its specific biological roles are not fully characterized, but it is implicated in cellular processes including differentiation and response to stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression may contribute to tumorigenesis via transcriptional dysregulation | COSMIC database reports somatic mutations in various cancers |
| No specific Mendelian disease association | Not yet established | OMIM lists as a gene of unknown clinical significance |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Spleen | 8.1 | Low |
| Lung | 6.5 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| K562 | 10.5 | Detectable |
| HeLa | 7.8 | Low |
| HepG2 | 5.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Unknown functional impact |
| c.1570_1571del (p.Leu524fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu524fs) likely result in truncated protein and loss of DNA-binding or repressor activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ZNF714.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Not assigned to any specific pathway in Reactome or KEGG
Protein Summary
ZNF714 is a 524-amino acid protein containing a KRAB domain at the N-terminus and multiple C2H2-type zinc finger motifs. It localizes to the nucleus and is predicted to bind DNA and repress transcription. The protein is expressed in testis and at lower levels in other tissues. Its precise molecular function and physiological roles remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF714 Knockout HEK293 Cell Line | EDJ-KQ2125 | Human | 148206 | Details Get a Quote |
| ZNF714 Knockout A-549 Cell Line | EDJ-KQ22278 | Human | 148206 | Details Get a Quote |
| ZNF714 Knockout HCT 116 Cell Line | EDJ-KQ22279 | Human | 148206 | Details Get a Quote |
| ZNF714 Knockout HeLa Cell Line | EDJ-KQ22280 | Human | 148206 | Details Get a Quote |
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