ZNF804A
Zinc Finger Protein 804A: A Susceptibility Gene for Schizophrenia and Bipolar Disorder
Gene Information Card
| Symbol | ZNF804A |
|---|---|
| Full Name | zinc finger protein 804A |
| Gene Type | protein-coding |
| Chromosomal Location | 2q32.1 |
| NCBI Gene ID | 91752 ncbi.nlm.nih.gov/gene/91752 |
| Ensembl ID | ENSG00000170396 |
| UniProt ID | Q5T6X5 |
| OMIM ID | 612282 |
| HGNC ID | 25016 |
| Aliases | C2orf10, ZNF804A |
Description
ZNF804A encodes a zinc finger protein of unknown function, but genome-wide association studies have consistently linked common variants in this gene to increased risk for schizophrenia and bipolar disorder. The protein is expressed in the brain, particularly in the hippocampus and cortex, and may play a role in neurodevelopment and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Risk variant rs1344706 is associated with altered ZNF804A expression in brain, potentially affecting neuronal connectivity and synaptic function. | GWAS meta-analysis (Schizophrenia Working Group of the Psychiatric Genomics Consortium, 2014) |
| Bipolar Disorder | Same risk allele (rs1344706) shows association with bipolar disorder, suggesting shared genetic etiology. | GWAS (Sklar et al., 2011) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain - cortex | 5.2 | Medium |
| Brain - hippocampus | 4.8 | Medium |
| Brain - cerebellum | 2.1 | Low |
| Testis | 1.5 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.4 | Neuronal model |
| HEK293 (embryonic kidney) | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1344706 (intronic) | SNP | 0.26 (allele frequency in Europeans) | Risk allele (A) associated with increased ZNF804A expression and schizophrenia risk |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in disease association.
Gain of Function (GOF)
Risk allele rs1344706 may increase ZNF804A expression, suggesting a potential gain-of-function mechanism.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • zinc ion binding |
| • metal ion binding | • DNA-binding transcription factor activity |
Pathways
• No curated pathways available.
Protein Summary
ZNF804A is a 1210-amino acid protein containing a C2H2-type zinc finger domain, suggesting a role in DNA binding and transcriptional regulation. Its exact molecular function remains unclear, but it is predominantly expressed in the brain and implicated in neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF804A Knockout HEK293 Cell Line | EDJ-KQ10776 | Human | 91752 | Details Get a Quote |
| ZNF804A Knockout HCT 116 Cell Line | EDJ-KQ38396 | Human | 91752 | Details Get a Quote |
| ZNF804A Knockout HeLa Cell Line | EDJ-KQ57812 | Human | 91752 | Details Get a Quote |
| ZNF804A Knockout A-549 Cell Line | EDJ-KQ66307 | Human | 91752 | Details Get a Quote |
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