WAS Gene (WASP Actin Nucleation Promoting Factor)
Key regulator of actin cytoskeleton dynamics; mutations cause Wiskott-Aldrich syndrome and related disorders.
Gene Information Card
| Symbol | WAS |
|---|---|
| Full Name | WASP actin nucleation promoting factor |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 7454 ncbi.nlm.nih.gov/gene/7454 |
| Ensembl ID | ENSG00000015285 |
| UniProt ID | P42768 |
| OMIM ID | 300392 |
| HGNC ID | 12731 |
| Aliases | WASP, IMD2, SCNX, THC, WASp |
Description
The WAS gene encodes Wiskott-Aldrich syndrome protein (WASP), a cytoplasmic protein that regulates actin polymerization through the Arp2/3 complex. It is primarily expressed in hematopoietic cells and plays a critical role in immune cell signaling, cytoskeletal organization, and immune synapse formation. Mutations in WAS cause Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia (XLT), and X-linked severe congenital neutropenia (XLN), with varying severity depending on the mutation type.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wiskott-Aldrich syndrome (WAS) | Loss-of-function mutations leading to absent or truncated WASP protein, causing defective actin polymerization in platelets and lymphocytes, resulting in thrombocytopenia, eczema, and immunodeficiency. | OMIM #301000; ClinVar |
| X-linked thrombocytopenia (XLT) | Missense mutations in the PH domain or other regions that partially impair WASP function, leading to mild thrombocytopenia without severe immunodeficiency. | OMIM #313900; ClinVar |
| X-linked severe congenital neutropenia (XLN) | Gain-of-function mutations in the GTPase-binding domain (e.g., L270P) that constitutively activate WASP, causing dysregulated actin polymerization and neutropenia. | OMIM #300299; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.3 | High |
| Spleen | 8.7 | Medium |
| Lymph Node | 7.9 | Medium |
| Thymus | 6.5 | Medium |
| Peripheral Blood | 5.2 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HL-60 (promyeloblast) | 12.8 | High expression |
| Jurkat (T-cell leukemia) | 10.1 | Medium expression |
| Ramos (Burkitt lymphoma) | 9.3 | Medium expression |
| HeLa (cervical carcinoma) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.37C>T (p.Arg13Ter) | Nonsense | ~10% of WAS patients | Premature stop codon leading to truncated WASP, loss of function |
| c.559G>A (p.Glu187Lys) | Missense | ~5% of WAS patients | Disrupts PH domain, impairs membrane localization and actin polymerization |
| c.809A>G (p.Asp270Gly) | Missense | Rare (XLN) | Gain-of-function, constitutive activation of Arp2/3 complex |
| c.145+1G>A | Splice site | ~8% of WAS patients | Aberrant splicing, reduced WASP expression |
Mutation functional classification
Loss of Function (LOF)
Most WAS mutations are loss-of-function, leading to reduced or absent WASP protein, causing WAS or XLT depending on residual activity.
Gain of Function (GOF)
Specific missense mutations in the GBD domain (e.g., L270P) cause constitutive activation, leading to XLN.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type WASP function, though this is less common.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • GTPase binding (GO:0051020) |
| • protein binding (GO:0005515) | • actin filament polymerization (GO:0030041) |
| • immune response (GO:0006955) | • cell migration (GO:0016477) |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Fc gamma R-mediated phagocytosis (KEGG: hsa04666)
• T cell receptor signaling pathway (KEGG: hsa04660)
• Chemokine signaling pathway (KEGG: hsa04062)
Protein Summary
WASP is a 502-amino acid protein with multiple domains: WH1 (WASP homology 1), basic region, GTPase-binding domain (GBD), proline-rich region, and VCA domain. It is autoinhibited in the cytoplasm and activated by Cdc42 and PIP2, leading to Arp2/3-mediated actin nucleation. WASP is essential for immune cell function, including T-cell activation, platelet production, and neutrophil migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASF3 Knockout HEK293 Cell Line | EDJ-KQ3182 | Human | 10810 | Details Get a Quote |
| WAS Knockout HEK293 Cell Line | EDJ-KQ6013 | Human | 7454 | Details Get a Quote |
| WASF1 Knockout HEK293 Cell Line | EDJ-KQ6406 | Human | 8936 | Details Get a Quote |
| WASL Knockout HEK293 Cell Line | EDJ-KQ6418 | Human | 8976 | Details Get a Quote |
| WASHC5 Knockout HEK293 Cell Line | EDJ-KQ6809 | Human | 9897 | Details Get a Quote |
| WASF2 Knockout HEK293 Cell Line | EDJ-KQ6927 | Human | 10163 | Details Get a Quote |
| WASHC4 Knockout HEK293 Cell Line | EDJ-KQ7965 | Human | 23325 | Details Get a Quote |
| WASHC3 Knockout HEK293 Cell Line | EDJ-KQ10873 | Human | 51019 | Details Get a Quote |
| WASHC2C Knockout HEK293 Cell Line | EDJ-KQ11742 | Human | 253725 | Details Get a Quote |
| WASHC1 Knockout HEK293 Cell Line | EDJ-KQ16125 | Human | 100287171 | Details Get a Quote |
| WASHC2A Knockout HEK293 Cell Line | EDJ-KQ16126 | Human | 387680 | Details Get a Quote |
| WASHC2C Knockout A-549 Cell Line | EDJ-KQ40114 | Human | 253725 | Details Get a Quote |
| WASHC2A Knockout A-549 Cell Line | EDJ-KQ46069 | Human | 387680 | Details Get a Quote |
| WASF3 Knockout HCT 116 Cell Line | EDJ-KQ24612 | Human | 10810 | Details Get a Quote |
| WASF1 Knockout A-549 Cell Line | EDJ-KQ30439 | Human | 8936 | Details Get a Quote |
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