ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable ubiquitin protein ligase activity. Acts upstream of or within camera-type eye development and cerebellum development. Predicted to be active in postsynaptic endocytic zone and presynapse. 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 |
| Domain | IPR058758 | E3 ubiquitin-protein ligase RNF216, UBA domain |
| Family | IPR051628 | Linear Ubiquitination-Associated E3 Ligases |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Domain Details Per Protein
| Protein | Additional Resources | Length | E3 ubiquitin-protein ligase RNF216, BRcat domain | E3 ubiquitin-protein ligase RNF216, Rcat domain | E3 ubiquitin-protein ligase RNF216, RING finger, HC subclass | E3 ubiquitin-protein ligase RNF216, UBA domain | Linear Ubiquitination-Associated E3 Ligases | TRIAD supradomain | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7F859 | InterPro | 834 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rnf216-201
(1)
|
Ensembl | 2,927 nt | ||
| mRNA |
rnf216-202
(1)
|
Ensembl | 7,522 nt | ||
| mRNA |
rnf216-203
(1)
|
Ensembl | 2,490 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers