ZNF592: Zinc Finger Protein 592 – A Key Regulator in Cerebellar Development and Neurodevelopmental Disorders
Comprehensive genomic and proteomic analysis of ZNF592, its role in CAMOS syndrome, and implications for neurodevelopmental pathology.
Gene Information Card
| Symbol | ZNF592 |
|---|---|
| Full Name | zinc finger protein 592 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q25.3 |
| NCBI Gene ID | 9643 ncbi.nlm.nih.gov/gene/9643 |
| Ensembl ID | ENSG00000166710 |
| UniProt ID | Q92610 |
| OMIM ID | 610624 |
| HGNC ID | 29386 |
| Aliases | FLJ11273, KIAA0211, ZFP592 |
Description
ZNF592 (zinc finger protein 592) is a protein-coding gene located on chromosome 15q25.3. It encodes a C2H2-type zinc finger transcription factor involved in the regulation of gene expression during cerebellar development. Mutations in ZNF592 are associated with autosomal recessive cerebellar ataxia with mental retardation and optic atrophy (CAMOS syndrome). The protein is expressed in multiple tissues, with highest levels in the brain, and plays a role in neurodevelopmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| CAMOS syndrome (cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities) | Loss-of-function mutations in ZNF592 disrupt transcriptional regulation required for cerebellar and retinal development, leading to neurodegeneration and developmental delay. | OMIM #610624; ClinVar; PMID 20451169 |
| Autosomal recessive cerebellar ataxia | Biallelic pathogenic variants in ZNF592 impair protein function, resulting in progressive ataxia and associated neurological deficits. | OMIM; ClinVar; PMID 20451169 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.3 | Medium |
| Brain (cortex) | 8.7 | Low |
| Testis | 6.2 | Low |
| Heart | 4.1 | Low |
| Liver | 2.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 9.8 | Neuronal model |
| HEK293 (embryonic kidney) | 7.3 | Common expression system |
| HeLa (cervical carcinoma) | 5.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare (found in CAMOS families) | Premature stop, loss of protein function |
| c.1195C>T (p.Arg399Trp) | Missense | Rare | Likely damaging, disrupts zinc finger domain |
| c.1489G>A (p.Gly497Arg) | Missense | Rare | Uncertain significance, predicted deleterious |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, resulting in haploinsufficiency or complete loss of ZNF592 function.
Gain of Function (GOF)
No gain-of-function mutations reported for ZNF592.
Dominant Negative (DN)
No dominant-negative mutations reported; all known pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Not assigned to any specific KEGG or Reactome pathway; involved in transcriptional regulation during neural development.
Protein Summary
ZNF592 is a 1,242-amino acid protein containing multiple C2H2-type zinc finger domains, characteristic of transcription factors. It localizes to the nucleus and regulates gene expression critical for cerebellar and retinal development. Loss-of-function mutations cause CAMOS syndrome, a rare autosomal recessive disorder. The protein is expressed broadly, with highest levels in the brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF592 Knockout HEK293 Cell Line | EDJ-KQ6672 | Human | 9640 | Details Get a Quote |
| ZNF592 Knockout A-549 Cell Line | EDJ-KQ30984 | Human | 9640 | Details Get a Quote |
| ZNF592 Knockout HCT 116 Cell Line | EDJ-KQ30985 | Human | 9640 | Details Get a Quote |
| ZNF592 Knockout HeLa Cell Line | EDJ-KQ29631 | Human | 9640 | Details Get a Quote |
