RNF24: Ring Finger Protein 24
A Golgi-associated E3 ubiquitin ligase involved in calcium signaling and TRPC channel regulation.
Gene Information Card
| Symbol | RNF24 |
|---|---|
| Full Name | Ring Finger Protein 24 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 11237 ncbi.nlm.nih.gov/gene/11237 |
| Ensembl ID | ENSG00000101236 |
| UniProt ID | Q9Y225 |
| OMIM ID | 612489 |
| HGNC ID | 10070 |
| Aliases | G1L, MGC12966, RING finger protein 24 |
Description
RNF24 encodes a ring finger protein that functions as an E3 ubiquitin ligase. It localizes to the Golgi apparatus and interacts with transient receptor potential canonical (TRPC) channels, particularly TRPC6, regulating their trafficking and stability. RNF24 is involved in calcium homeostasis and may play a role in cardiac and neuronal signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Focal segmental glomerulosclerosis (FSGS) | RNF24 interacts with TRPC6; TRPC6 mutations cause FSGS. RNF24 may modulate TRPC6 degradation and contribute to disease susceptibility. | PMID: 23223016; ClinVar |
| Cardiac hypertrophy | RNF24 regulates TRPC6 expression; TRPC6 upregulation is linked to pathological cardiac hypertrophy. | PMID: 23223016 |
| Cancer (general) | RNF24 expression is altered in some cancers; potential role in calcium-dependent proliferation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Liver | 6.1 | Low |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | High expression |
| HeLa | 9.2 | Medium expression |
| K562 | 5.4 | Low expression |
| SH-SY5Y | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Cys) | Missense | <0.01% | Unknown; predicted damaging (SIFT) |
| c.544G>A (p.Gly182Arg) | Missense | <0.01% | Unknown; predicted benign (PolyPhen) |
| c.789_790insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) likely cause loss of E3 ligase activity, impairing TRPC6 degradation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Calcium signaling pathway (KEGG: hsa04020)
• TRPC channel regulation (Reactome: R-HSA-983695)
Protein Summary
RNF24 is a 401-amino acid protein containing a RING-type zinc finger domain characteristic of E3 ubiquitin ligases. It localizes to the Golgi apparatus and interacts with TRPC6, promoting its ubiquitination and degradation. This regulation is critical for controlling TRPC6 surface expression and calcium influx. RNF24 is widely expressed, with highest levels in testis and heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF24 Knockout HEK293 Cell Line | EDJ-KQ7341 | Human | 11237 | Details Get a Quote |
| RNF24 Knockout A-549 Cell Line | EDJ-KQ32441 | Human | 11237 | Details Get a Quote |
| RNF24 Knockout HCT 116 Cell Line | EDJ-KQ32442 | Human | 11237 | Details Get a Quote |
| RNF24 Knockout HeLa Cell Line | EDJ-KQ32443 | Human | 11237 | Details Get a Quote |
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