Gene
sash3
- ID
- ZDB-GENE-130411-1
- Name
- SAM and SH3 domain containing 3
- Symbol
- sash3 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human SASH3 (SAM and SH3 domain containing 3).
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Immunodeficiency 102 | 301082 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001452 | SH3 domain |
| Domain | IPR001660 | Sterile alpha motif domain |
| Domain | IPR021090 | SLy proteins associated disordered region |
| Family | IPR051725 | SAM and SH3 domain-containing protein |
| Homologous_superfamily | IPR013761 | Sterile alpha motif/pointed domain superfamily |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
Domain Details Per Protein
| Protein | Length | SAM and SH3 domain-containing protein | SH3 domain | SH3-like domain superfamily | SLy proteins associated disordered region | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:E7EZR2
|
386 |
Interactions and Pathways
No data available
Plasmids
No data available