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.

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 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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