WASF2 Gene: WASP Family Member 2
Actin Cytoskeleton Regulator and Cancer-Associated Gene
Gene Information Card
| Symbol | WASF2 |
|---|---|
| Full Name | WASP family member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 10163 ncbi.nlm.nih.gov/gene/10163 |
| Ensembl ID | ENSG00000158195 |
| UniProt ID | Q9Y6W5 |
| OMIM ID | 605875 |
| HGNC ID | 12733 |
| Aliases | WAVE2, SCAR2, WASF2L |
Description
WASF2 (WASP family member 2) encodes a member of the Wiskott-Aldrich syndrome protein family, known as WAVE2. This protein is a key regulator of actin cytoskeleton reorganization through the Arp2/3 complex, influencing cell motility, migration, and morphogenesis. WASF2 is implicated in cancer metastasis, immune cell function, and neurodevelopmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | WASF2 overexpression promotes invadopodia formation and metastasis via Arp2/3 activation. | PMID: 22926524; COSMIC |
| Colorectal Cancer | WASF2 amplification correlates with poor prognosis and increased cell migration. | PMID: 25605248; COSMIC |
| Wiskott-Aldrich Syndrome (atypical) | Rare WASF2 mutations may disrupt actin regulation in hematopoietic cells. | OMIM: 605875; ClinVar |
| Intellectual Disability | De novo WASF2 variants linked to neurodevelopmental phenotypes. | PMID: 31036916; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Colon | 9.1 | Low |
| Blood | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| HCT116 (colorectal) | 11.8 | Moderate expression |
| HEK293 (embryonic kidney) | 9.5 | Low expression |
| Jurkat (T-cell) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378Cys) | Missense | 0.02% (gnomAD) | Reduced Arp2/3 binding |
| c.1456G>A (p.Glu486Lys) | Missense | 0.01% (gnomAD) | Altered localization |
| c.1687_1688insA (p.Thr563Asnfs*2) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in WASF2 lead to truncated protein lacking the VCA domain, impairing Arp2/3 activation and actin polymerization.
Gain of Function (GOF)
Amplification or overexpression of WASF2 in cancers enhances cell migration and invasion, acting as a gain-of-function in metastasis.
Dominant Negative (DN)
Missense mutations in the WHD domain may produce dominant-negative effects by sequestering regulatory complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Arp2/3 complex signaling (Reactome: R-HSA-2029482)
• WAVE2 complex pathway (Reactome: R-HSA-5663222)
Protein Summary
WASF2 (WAVE2) is a 498-amino-acid protein that forms part of the WAVE regulatory complex (WRC). It contains a WHD domain, a basic region, a proline-rich region, and a VCA domain. The VCA domain binds and activates the Arp2/3 complex to nucleate branched actin filaments. WASF2 is essential for lamellipodia formation, cell migration, and endocytosis. Its dysregulation is linked to cancer invasion and immune disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASF2 Knockout HEK293 Cell Line | EDJ-KQ6927 | Human | 10163 | Details Get a Quote |
| WASF2 Knockout A-549 Cell Line | EDJ-KQ31568 | Human | 10163 | Details Get a Quote |
| WASF2 Knockout HCT 116 Cell Line | EDJ-KQ31569 | Human | 10163 | Details Get a Quote |
| WASF2 Knockout HeLa Cell Line | EDJ-KQ31570 | Human | 10163 | Details Get a Quote |
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