WHAMM: WASP Homolog Associated with Actin, Golgi Membranes and Microtubules
Key regulator of actin nucleation and membrane trafficking at the Golgi apparatus
Gene Information Card
| Symbol | WHAMM |
|---|---|
| Full Name | WASP Homolog Associated with Actin, Golgi Membranes and Microtubules |
| Gene Type | Protein coding |
| Chromosomal Location | 15q25.2 |
| NCBI Gene ID | 123720 ncbi.nlm.nih.gov/gene/123720 |
| Ensembl ID | ENSG00000156239 |
| UniProt ID | Q8TF30 |
| OMIM ID | 613456 |
| HGNC ID | 23393 |
| Aliases | WASL, WHAMM1, WHAMM2 |
Description
WHAMM (WASP Homolog Associated with Actin, Golgi Membranes and Microtubules) is a protein-coding gene that encodes a member of the WASP family of actin nucleation-promoting factors. The WHAMM protein localizes to the Golgi apparatus and plays a critical role in actin polymerization, membrane tubulation, and vesicle transport. It links the actin and microtubule cytoskeletons to facilitate Golgi dynamics and autophagosome formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | WHAMM overexpression or mutation may alter actin dynamics and membrane trafficking, contributing to tumor invasion and metastasis. | COSMIC; literature reports |
| Neurodevelopmental disorders | Rare variants in WHAMM have been implicated in intellectual disability and autism spectrum disorders. | ClinVar; literature reports |
| Autophagy-related disorders | WHAMM is involved in autophagosome formation; dysregulation may affect cellular clearance mechanisms. | UniProt; literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Spleen | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
| A549 | 7.2 | Lung carcinoma cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Altered actin binding; potential loss of function |
| c.567_569del (p.Lys189del) | Deletion | <0.1% | Disrupts WH2 domain; reduced nucleation activity |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations in the WH2 domain or actin-binding regions reduce actin nucleation and membrane tubulation activity.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may enhance actin polymerization and cell motility.
Dominant Negative (DN)
Truncating or missense variants that disrupt WHAMM interactions with Arp2/3 complex may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • actin filament polymerization | • Arp2/3 complex-mediated actin nucleation |
| • Golgi organization | • membrane tubulation |
| • autophagosome assembly | • microtubule binding |
| • actin binding |
Pathways
• Arp2/3 complex-mediated actin nucleation
• Golgi vesicle transport
• Autophagy
Protein Summary
WHAMM is a 809-amino acid protein containing an N-terminal WHAMM membrane-binding domain, a central proline-rich region, and a C-terminal WASP homology 2 (WH2) domain that binds actin. It interacts with the Arp2/3 complex to nucleate branched actin filaments, and with microtubules via its C-terminal region. WHAMM localizes to the Golgi apparatus and is essential for maintaining Golgi structure, membrane tubulation, and autophagosome formation. Its activity is regulated by phosphorylation and interactions with small GTPases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WHAMM Knockout HEK293 Cell Line | EDJ-KQ8238 | Human | 123720 | Details Get a Quote |
| WHAMM Knockout A-549 Cell Line | EDJ-KQ34154 | Human | 123720 | Details Get a Quote |
| WHAMM Knockout HCT 116 Cell Line | EDJ-KQ34155 | Human | 123720 | Details Get a Quote |
| WHAMM Knockout HeLa Cell Line | EDJ-KQ34156 | Human | 123720 | Details Get a Quote |
