Gene
rnf216
- ID
- ZDB-GENE-081104-199
- Name
- ring finger protein 216
- Symbol
- rnf216 Nomenclature History
- Previous Names
-
- si:ch211-255l18.3
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Involved in camera-type eye development and cerebellum development. Human ortholog(s) of this gene implicated in Gordon Holmes syndrome. Orthologous to human RNF216 (ring finger protein 216).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Margolin et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Gordon Holmes syndrome | Alliance | Cerebellar ataxia and hypogonadotropic hypogonadism | 212840 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR044066 | TRIAD supradomain |
| Domain | IPR047544 | E3 ubiquitin-protein ligase RNF216, RING finger, HC subclass |
| Domain | IPR047545 | E3 ubiquitin-protein ligase RNF216, BRcat domain |
| Domain | IPR047546 | E3 ubiquitin-protein ligase RNF216, Rcat domain |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Domain Details Per Protein
| Protein | Length | E3 ubiquitin-protein ligase RNF216, BRcat domain | E3 ubiquitin-protein ligase RNF216, Rcat domain | E3 ubiquitin-protein ligase RNF216, RING finger, HC subclass | TRIAD supradomain | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|
|
UniProtKB:E7F859
|
834 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
rnf216-201
(1)
|
Havana | 2927 nt |
Interactions and Pathways
No data available
Plasmids
No data available