ZNF230 Gene - Zinc Finger Protein 230
Genetic and Functional Insights into ZNF230
Gene Information Card
| Symbol | ZNF230 |
|---|---|
| Full Name | Zinc Finger Protein 230 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.31 |
| NCBI Gene ID | 7773 ncbi.nlm.nih.gov/gene/7773 |
| Ensembl ID | ENSG00000105639 |
| UniProt ID | Q9H2Z4 |
| OMIM ID | 604751 |
| HGNC ID | 13047 |
| Aliases | KIAA0303, ZNF230 |
Description
ZNF230 (Zinc Finger Protein 230) is a protein-coding gene located on chromosome 19q13.31. It encodes a zinc finger protein that likely functions as a transcription factor, involved in DNA binding and regulation of gene expression. The protein contains multiple C2H2-type zinc finger domains, which are characteristic of transcription factors. ZNF230 is expressed in various tissues and may play roles in development, cell differentiation, and disease processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Potential involvement in tumorigenesis; altered expression may affect cell proliferation | Limited evidence; expression studies in cancer cell lines |
| Hepatocellular Carcinoma | Possible role in cell cycle regulation; aberrant expression may contribute to malignancy | Expression analysis in tumor tissues |
| Colorectal Cancer | Potential tumor suppressor or oncogenic role; further studies needed | Expression profiling studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 8.5 | Low |
| Liver | 6.2 | Low |
| Brain | 4.1 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HepG2 | 10.4 | Moderate expression |
| A549 | 7.8 | Low expression |
| MCF7 | 6.5 | 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% (ExAC) | Potential alteration in DNA binding affinity |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% (ExAC) | Unknown functional impact |
| c.890delC (p.Pro297Leufs*13) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons likely result in loss of function, potentially affecting transcriptional regulation.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported for ZNF230.
Dominant Negative (DN)
No evidence of dominant-negative effects; further studies required.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • Zinc ion binding |
| • Transcription factor activity | • Regulation of transcription |
| • DNA-templated | • Nucleus |
Pathways
• No specific pathways curated in major databases; likely involved in transcriptional regulation.
Protein Summary
ZNF230 is a zinc finger protein of the C2H2-type family, containing multiple zinc finger motifs that mediate sequence-specific DNA binding. It is localized to the nucleus and functions as a transcription factor, regulating the expression of target genes. The protein is involved in various cellular processes including proliferation, differentiation, and apoptosis. Its expression is tissue-specific, with higher levels in testis and kidney. Alterations in ZNF230 expression or mutations may contribute to cancer development, although the exact mechanisms remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF230 Knockout HEK293 Cell Line | EDJ-KQ6122 | Human | 7773 | Details Get a Quote |
| ZNF230 Knockout A-549 Cell Line | EDJ-KQ29878 | Human | 7773 | Details Get a Quote |
| ZNF230 Knockout HCT 116 Cell Line | EDJ-KQ29879 | Human | 7773 | Details Get a Quote |
| ZNF230 Knockout HeLa Cell Line | EDJ-KQ29880 | Human | 7773 | Details Get a Quote |
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