RNF220
Ring Finger Protein 220: A Ubiquitin Ligase in Neural Development and Disease
Gene Information Card
| Symbol | RNF220 |
|---|---|
| Full Name | Ring Finger Protein 220 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 55182 ncbi.nlm.nih.gov/gene/55182 |
| Ensembl ID | ENSG00000187164 |
| UniProt ID | Q5VTB9 |
| OMIM ID | 616631 |
| HGNC ID | 26100 |
| Aliases | C1orf164, FLJ20366, ZNF294 |
Description
RNF220 (Ring Finger Protein 220) encodes a member of the RING finger protein family that functions as an E3 ubiquitin ligase. The protein contains a RING-type zinc finger domain and is involved in ubiquitination and proteasomal degradation of target proteins. RNF220 plays a critical role in neural development, particularly in the regulation of Wnt signaling and dorsal-ventral patterning of the spinal cord. It is also implicated in ciliogenesis and cell cycle control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | RNF220 variants may disrupt ubiquitin ligase activity affecting neuronal development | ClinVar |
| Autism spectrum disorder | De novo missense variants identified in ASD cohorts | ClinVar |
| Developmental delay | Loss-of-function mutations associated with neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.9 | Low |
| Thyroid | 7.2 | Low |
| Lung | 5.1 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuronal cell line |
| HEK293 | 8.5 | Embryonic kidney |
| HeLa | 6.7 | Cervical carcinoma |
| U2OS | 5.9 | Osteosarcoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Start codon loss |
| c.256C>T | Nonsense | Rare | Premature truncation |
| c.487G>A | Missense | Rare | p.Gly163Arg |
| c.712C>T | Missense | Rare | p.Arg238Cys |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants in the RING domain may impair ubiquitin ligase activity in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Wnt signaling pathway (Reactome: R-HSA-195721)
Protein Summary
RNF220 is a 669-amino acid protein containing a RING-type zinc finger domain at the N-terminus (residues 1-40) that mediates E3 ubiquitin ligase activity. It interacts with target proteins such as β-catenin and promotes their ubiquitination and degradation. The protein is predominantly nuclear but also localizes to the cytoplasm. RNF220 is highly expressed in the developing nervous system and is essential for proper neural tube closure and spinal cord patterning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF220 Knockout HEK293 Cell Line | EDJ-KQ15110 | Human | 55182 | Details Get a Quote |
| RNF220 Knockout A-549 Cell Line | EDJ-KQ45697 | Human | 55182 | Details Get a Quote |
| RNF220 Knockout HCT 116 Cell Line | EDJ-KQ45698 | Human | 55182 | Details Get a Quote |
| RNF220 Knockout HeLa Cell Line | EDJ-KQ45699 | Human | 55182 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
