ZNF804B
Zinc Finger Protein 804B: A Potential Regulator of Gene Expression
Gene Information Card
| Symbol | ZNF804B |
|---|---|
| Full Name | Zinc Finger Protein 804B |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.13 |
| NCBI Gene ID | 148156 ncbi.nlm.nih.gov/gene/148156 |
| Ensembl ID | ENSG00000182372 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:25114 |
| Aliases | FLJ32771, MGC138290 |
Description
ZNF804B is a protein-coding gene that encodes a zinc finger protein of the Krüppel-associated box (KRAB) domain family. Zinc finger proteins are involved in transcriptional regulation, and ZNF804B may function as a transcription factor. The gene is located on chromosome 7q21.13. Limited functional data are available, but expression studies suggest roles in specific tissues and potential involvement in cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Potential association via genetic variation; mechanism unclear | Genetic association studies (e.g., GWAS) have reported variants near ZNF804B linked to schizophrenia risk, though direct causal evidence is limited. |
| Bipolar disorder | Possible genetic association; mechanism unknown | Some genome-wide association studies have implicated ZNF804B variants in bipolar disorder susceptibility. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 2.3 | Low |
| Testis | 1.8 | Low |
| Lung | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 1.2 | Low expression |
| K562 | 0.8 | Not detected |
| HeLa | 0.6 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12345678 (example) | SNV | 0.01% (gnomAD) | Missense; unknown functional effect |
| c.1000C>T (example) | SNV | 0.005% | Nonsense; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations predicted to cause loss of protein function, but no confirmed pathogenic variants in ClinVar.
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 |
| • DNA-templated |
Protein Summary
ZNF804B is a 648-amino acid protein containing a KRAB domain and multiple C2H2-type zinc finger motifs, characteristic of transcription factors. The KRAB domain mediates transcriptional repression via interaction with co-repressors. The protein is predicted to localize to the nucleus and bind DNA. Its specific target genes and biological functions remain largely uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF804B Knockout HEK293 Cell Line | EDJ-KQ8214 | Human | 219578 | Details Get a Quote |
| ZNF804B Knockout HeLa Cell Line | EDJ-KQ59089 | Human | 219578 | Details Get a Quote |
| ZNF804B Knockout A-549 Cell Line | EDJ-KQ67565 | Human | 219578 | Details Get a Quote |
| ZNF804B Knockout HCT 116 Cell Line | EDJ-KQ75959 | Human | 219578 | Details Get a Quote |
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