Gene
rusc2
- ID
- ZDB-GENE-060526-131
- Name
- RUN and SH3 domain containing 2
- Symbol
- rusc2 Nomenclature History
- Previous Names
-
- si:ch211-250o15.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to localize to cytoplasmic vesicle. Human ortholog(s) of this gene implicated in autosomal recessive mental retardation 61. Is expressed in central nervous system. Orthologous to human RUSC2 (RUN and SH3 domain containing 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7156060 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 61 | Alliance | Intellectual developmental disorder, autosomal recessive 61 | 617773 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001452 | SH3 domain |
| Domain | IPR004012 | RUN domain |
| Domain | IPR047342 | AP-4 complex accessory subunit RUSC2, RUN domain |
| Family | IPR047343 | AP-4 complex accessory subunit RUSC1/2 |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Homologous_superfamily | IPR037213 | RUN domain superfamily |
Domain Details Per Protein
| Protein | Length | AP-4 complex accessory subunit RUSC1/2 | AP-4 complex accessory subunit RUSC2, RUN domain | RUN domain | RUN domain superfamily | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BCE1
|
1576 | ||||||
|
UniProtKB:A0A8M2BCI5
|
895 | ||||||
|
UniProtKB:A2BGP3
|
829 | ||||||
|
UniProtKB:A0A8M2BCE9
|
1642 |
Interactions and Pathways
No data available
Plasmids
No data available