RNF223 Gene - Ring Finger Protein 223
Comprehensive guide to RNF223: genomic location, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | RNF223 |
|---|---|
| Full Name | ring finger protein 223 |
| Gene Type | gene with protein product |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 401934 ncbi.nlm.nih.gov/gene/401934 |
| Ensembl ID | ENSG00000237330 |
| UniProt ID | E7ERA6 |
| OMIM ID | Not available |
| HGNC ID | HGNC:40020 |
| Aliases | Not available |
Description
RNF223 (ring finger protein 223) is a protein-coding gene located on chromosome 1p36.33. It encodes a protein that contains a RING finger domain, which is often involved in ubiquitination and protein-protein interactions. The specific function of RNF223 is not fully characterized, but it may play a role in cellular processes such as protein degradation and signal transduction. RNF223 is expressed in various tissues and may be implicated in certain diseases, although further research is needed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | Unknown | No direct evidence linking RNF223 to specific diseases is currently available. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No known pathogenic variants | Not applicable | Not applicable | No clinically significant mutations reported. |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in RNF223.
Gain of Function (GOF)
No evidence for gain-of-function mutations in RNF223.
Dominant Negative (DN)
No evidence for dominant-negative mutations in RNF223.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: metal ion binding (predicted) | • Biological process: ubiquitination (predicted) |
| • Cellular component: nucleus (predicted) |
Pathways
• Ubiquitin-proteasome pathway (predicted)
Protein Summary
The RNF223 protein is predicted to contain a RING finger domain, which is characteristic of E3 ubiquitin ligases. These enzymes play a role in targeting proteins for degradation by the proteasome. However, the specific substrates and biological functions of RNF223 remain to be elucidated. Further studies are required to understand its role in cellular physiology and disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF223 Knockout HEK293 Cell Line | EDJ-KQ11657 | Human | 401934 | Details Get a Quote |
| RNF223 Knockout HCT 116 Cell Line | EDJ-KQ38722 | Human | 401934 | Details Get a Quote |
| RNF223 Knockout HeLa Cell Line | EDJ-KQ60315 | Human | 401934 | Details Get a Quote |
| RNF223 Knockout A-549 Cell Line | EDJ-KQ68781 | Human | 401934 | Details Get a Quote |
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