RNF214
Ring Finger Protein 214
Gene Information Card
| Symbol | RNF214 |
|---|---|
| Full Name | Ring Finger Protein 214 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 285668 ncbi.nlm.nih.gov/gene/285668 |
| Ensembl ID | ENSG00000187954 |
| UniProt ID | Q8N4W9 |
| OMIM ID | 618420 |
| HGNC ID | 26790 |
| Aliases | C11orf52, FLJ38723 |
Description
RNF214 (Ring Finger Protein 214) is a protein-coding gene located on chromosome 11q13.2. It encodes a RING finger domain-containing protein predicted to function as an E3 ubiquitin ligase, involved in ubiquitination and protein degradation pathways. Expression is observed in multiple tissues, with highest levels in testis and thyroid.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Thyroid | 6.5 | Medium |
| Prostate | 4.1 | Low |
| Lung | 3.8 | Low |
| Brain | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | RNA-seq data |
| K562 | 3.2 | RNA-seq data |
| HeLa | 2.8 | RNA-seq data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | No functional data |
| c.100C>T | Synonymous | <0.01% | No functional data |
Mutation functional classification
Loss of Function (LOF)
No evidence
Gain of Function (GOF)
No evidence
Dominant Negative (DN)
No evidence
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • protein binding (GO:0005515) |
| • protein ubiquitination (GO:0016567) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
RNF214 is a 441-amino acid protein containing a RING-type zinc finger domain (residues 280-320) characteristic of E3 ubiquitin ligases. It is predicted to localize to the cytoplasm and nucleus, and may play a role in cellular protein homeostasis through ubiquitination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF214 Knockout HEK293 Cell Line | EDJ-KQ3497 | Human | 257160 | Details Get a Quote |
| RNF214 Knockout HeLa Cell Line | EDJ-KQ23920 | Human | 257160 | Details Get a Quote |
| RNF214 Knockout A-549 Cell Line | EDJ-KQ25299 | Human | 257160 | Details Get a Quote |
| RNF214 Knockout HCT 116 Cell Line | EDJ-KQ25300 | Human | 257160 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
