Gene
wasa
- ID
- ZDB-GENE-081104-419
- Name
- WASP actin nucleation promoting factor a
- Symbol
- wasa Nomenclature History
- Previous Names
-
- si:dkey-48j7.6
- wasp2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have actin filament binding activity. Predicted to be involved in several processes, including actin cortical patch assembly; actin cortical patch localization; and positive regulation of actin nucleation. Predicted to localize to actin cortical patch and actin filament. Human ortholog(s) of this gene implicated in Wiskott-Aldrich syndrome and severe congenital neutropenia. Is expressed in hematopoietic system; leukocyte; neuromast; and thrombocyte. Orthologous to human WAS (WASP actin nucleation promoting factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Cvejic et al., 2008
- 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 |
|---|---|---|---|
| thrombocytopenia | Alliance | Thrombocytopenia, X-linked | 313900 |
| thrombocytopenia | Alliance | Thrombocytopenia, X-linked, intermittent | 313900 |
| Wiskott-Aldrich syndrome | Alliance | Wiskott-Aldrich syndrome | 301000 |
| X-linked severe congenital neutropenia | Alliance | Neutropenia, severe congenital, X-linked | 300299 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000095 | CRIB domain |
| Domain | IPR000697 | WH1/EVH1 domain |
| Domain | IPR003124 | WH2 domain |
| Domain | IPR033927 | WASP family, EVH1 domain |
| Family | IPR027641 | Wiskott-Aldrich syndrome protein |
| Homologous_superfamily | IPR011026 | Wiscott-Aldrich syndrome protein, C-terminal |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR036936 | CRIB domain superfamily |
Domain Details Per Protein
| Protein | Length | CRIB domain | CRIB domain superfamily | PH-like domain superfamily | WASP family, EVH1 domain | WH1/EVH1 domain | WH2 domain | Wiscott-Aldrich syndrome protein, C-terminal | Wiskott-Aldrich syndrome protein |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8RW54
|
509 | ||||||||
|
UniProtKB:F1Q6U7
|
630 |
Interactions and Pathways
No data available
Plasmids
No data available