ZNF799 Gene: Zinc Finger Protein 799 - Structure, Function, and Clinical Significance
A comprehensive overview of ZNF799, a KRAB-ZNF transcription factor, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | ZNF799 |
|---|---|
| Full Name | zinc finger protein 799 |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 163033 ncbi.nlm.nih.gov/gene/163033 |
| Ensembl ID | ENSG00000186862 |
| UniProt ID | Q96C23 |
| OMIM ID | Not available |
| HGNC ID | HGNC:28044 |
| Aliases | FLJ39616, MGC138376 |
Description
ZNF799 is a protein-coding gene located on chromosome 19q13.12. It encodes a zinc finger protein belonging to the Krüppel-associated box (KRAB) domain-containing zinc finger protein family. These proteins typically function as transcription factors, often involved in transcriptional regulation, chromatin remodeling, and protein-protein interactions. ZNF799 is predicted to be involved in DNA-binding transcription factor activity and regulation of gene expression. The gene is expressed in various tissues, with notable expression in the testis and some brain regions. While its specific biological roles are not fully characterized, it is part of a large family of KRAB-ZNFs that play roles in development, differentiation, and disease, including cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Potential dysregulation of ZNF799 expression may contribute to tumorigenesis, but specific mechanisms are not well-defined. | COSMIC lists ZNF799 mutations in a small percentage of cancer samples, but no strong evidence for a driver role. |
| No specific Mendelian disease | No disease-causing mutations have been reported in OMIM or ClinVar. | OMIM does not list ZNF799; ClinVar has no pathogenic variants. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Thyroid | 6.1 | Low |
| Lung | 4.3 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 5.0 | Low expression |
| HeLa (cervical cancer) | 3.2 | Low expression |
| A549 (lung cancer) | 2.1 | Very low |
| HepG2 (liver cancer) | 1.0 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | 0.01% (COSMIC) | Predicted to cause loss of function via truncated protein. |
| c.567A>G (p.Ile189Met) | Missense | 0.02% (COSMIC) | Unknown effect; may alter zinc finger domain. |
| c.890_891insA (p.Leu297fs) | Frameshift | 0.005% (COSMIC) | Predicted loss of function. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations likely lead to loss of function, but no known phenotype.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • zinc ion binding |
| • nucleus | • regulation of transcription by RNA polymerase II |
Pathways
• No specific pathways are curated for ZNF799 in major databases.
Protein Summary
ZNF799 encodes a 548-amino acid protein with multiple C2H2-type zinc finger domains and a KRAB domain at the N-terminus. The KRAB domain is known to mediate transcriptional repression via recruitment of co-repressors such as KAP1. The protein is predicted to localize to the nucleus and bind DNA. Its exact target genes are unknown, but it likely regulates gene expression in a tissue-specific manner. Structural predictions suggest a typical KRAB-ZNF architecture, with the zinc finger array mediating sequence-specific DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF799 Knockout HEK293 Cell Line | EDJ-KQ10616 | Human | 90576 | Details Get a Quote |
| ZNF799 Knockout A-549 Cell Line | EDJ-KQ38111 | Human | 90576 | Details Get a Quote |
| ZNF799 Knockout HeLa Cell Line | EDJ-KQ38112 | Human | 90576 | Details Get a Quote |
| ZNF799 Knockout HCT 116 Cell Line | EDJ-KQ36806 | Human | 90576 | Details Get a Quote |
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