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
- Is expressed in central nervous system. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 61. 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