ZNF846 Gene: Zinc Finger Protein 846 – Structure, Function, and Clinical Significance
A comprehensive overview of ZNF846, a KRAB-ZNF transcription factor, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | ZNF846 |
|---|---|
| Full Name | Zinc finger protein 846 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 162993 ncbi.nlm.nih.gov/gene/162993 |
| Ensembl ID | ENSG00000197162 |
| UniProt ID | Q5JWF2 |
| OMIM ID | Not available |
| HGNC ID | 28067 |
| Aliases | FLJ39616 |
Description
ZNF846 encodes a zinc finger protein belonging to the Krüppel-associated box (KRAB) domain-containing zinc finger protein family. These proteins are transcriptional repressors that regulate gene expression by recruiting chromatin-modifying complexes. ZNF846 is located on chromosome 19p13.2 and is expressed in various tissues. Its exact biological functions are still under investigation, but it is implicated in transcriptional regulation and may play roles in development and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect transcriptional regulation of oncogenes or tumor suppressors; specific mechanism not fully characterized. | COSMIC lists ZNF846 mutations in cancer samples, but no definitive disease association is established. |
| No specific Mendelian disease | No OMIM entry; no disease-causing mutations reported in ClinVar. | ClinVar has no pathogenic variants for ZNF846. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.1 | Medium |
| Thyroid | 15.3 | Medium |
| Adrenal gland | 12.8 | Medium |
| Bone marrow | 10.5 | Low |
| Brain (cerebellum) | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 18.2 | Chronic myelogenous leukemia cell line; moderate expression |
| HeLa | 12.4 | Cervical adenocarcinoma; moderate expression |
| HepG2 | 9.8 | Hepatocellular carcinoma; low expression |
| A549 | 7.5 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (COSMIC) | Unknown; predicted to affect zinc finger domain function |
| c.567delC (p.Leu190TrpfsTer5) | Frameshift | 0.005% (COSMIC) | Likely loss of function; may lead to truncated protein |
| c.890C>T (p.Thr297Met) | Missense | 0.02% (COSMIC) | Unknown; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are likely to cause loss of function, potentially affecting transcriptional repression activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ZNF846.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • zinc ion binding |
| • metal ion binding | • nucleus |
| • regulation of transcription | • DNA-templated |
| • transcription repressor activity |
Pathways
• No specific pathways are curated for ZNF846 in major databases.
Protein Summary
ZNF846 is a KRAB domain-containing zinc finger protein that likely functions as a transcriptional repressor. It contains multiple C2H2-type zinc finger domains that mediate sequence-specific DNA binding. The KRAB domain recruits co-repressor complexes, leading to chromatin remodeling and gene silencing. Its expression in various tissues suggests a role in regulating tissue-specific gene expression. Further studies are needed to elucidate its target genes and physiological functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF846 Knockout HEK293 Cell Line | EDJ-KQ16385 | Human | 162993 | Details Get a Quote |
| ZNF846 Knockout A-549 Cell Line | EDJ-KQ50012 | Human | 162993 | Details Get a Quote |
| ZNF846 Knockout HeLa Cell Line | EDJ-KQ50013 | Human | 162993 | Details Get a Quote |
| ZNF846 Knockout HCT 116 Cell Line | EDJ-KQ75731 | Human | 162993 | Details Get a Quote |
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