ZNF692: Zinc Finger Protein 692 – A Transcriptional Regulator in Development and Disease
Comprehensive genomic, proteomic, and clinical overview of ZNF692, a Krüppel-associated box (KRAB) zinc finger protein implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | ZNF692 |
|---|---|
| Full Name | zinc finger protein 692 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9BU19 |
| OMIM ID | 617644 |
| HGNC ID | 25941 |
| Aliases | FLJ12287, ZNF692_HUMAN |
Description
ZNF692 (zinc finger protein 692) is a protein-coding gene located on chromosome 1q44. It encodes a Krüppel-associated box (KRAB) domain-containing zinc finger protein, which functions as a transcriptional repressor. The protein is involved in regulating gene expression during development and cellular differentiation. Alterations in ZNF692 have been associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of transcriptional repression leading to aberrant cell proliferation | COSMIC database reports somatic mutations in multiple cancer types |
| Developmental disorders | Loss-of-function mutations may disrupt normal embryonic development | ClinVar entries for ZNF692 variants in patients with intellectual disability and congenital anomalies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| K562 | 7.4 | Low expression in leukemia cells |
| HepG2 | 6.3 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | 0.02% (gnomAD) | Alters zinc finger domain; potential loss of DNA binding |
| c.457G>A (p.Gly153Ser) | Missense | 0.01% (gnomAD) | Located in linker region; functional impact unknown |
| c.784_785insA (p.Thr262Asnfs*5) | Frameshift | Rare | Predicted loss-of-function due to premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt zinc finger domains are predicted to cause loss of transcriptional repressor activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported in the literature or curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been described for ZNF692.
View complete mutation data：
Gene Ontology (GO)
Pathways
• No specific pathways are curated for ZNF692 in major pathway databases (Reactome
• KEGG). The protein is predicted to participate in KRAB-mediated transcriptional repression.
Protein Summary
ZNF692 is a 532-amino acid protein containing a KRAB domain at the N-terminus and multiple C2H2-type zinc finger motifs. The KRAB domain mediates interaction with KAP1/TRIM28 to recruit chromatin-modifying complexes, leading to transcriptional repression. The zinc fingers confer sequence-specific DNA binding. The protein is predominantly nuclear and is expressed in a variety of tissues, with highest levels in testis. Its precise biological targets remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF692 Knockout HEK293 Cell Line | EDJ-KQ16328 | Human | 55657 | Details Get a Quote |
| ZNF692 Knockout A-549 Cell Line | EDJ-KQ49918 | Human | 55657 | Details Get a Quote |
| ZNF692 Knockout HCT 116 Cell Line | EDJ-KQ49919 | Human | 55657 | Details Get a Quote |
| ZNF692 Knockout HeLa Cell Line | EDJ-KQ49920 | Human | 55657 | Details Get a Quote |
