ARPC4: Actin-Related Protein 2/3 Complex Subunit 4
A core component of the ARP2/3 complex essential for actin nucleation and branched actin filament formation.
Gene Information Card
| Symbol | ARPC4 |
|---|---|
| Full Name | Actin Related Protein 2/3 Complex Subunit 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 10093 ncbi.nlm.nih.gov/gene/10093 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | P59998 |
| OMIM ID | 604224 |
| HGNC ID | 707 |
| Aliases | ARC20, p20-ARC, ARPC4-TTLL3 |
Description
ARPC4 encodes subunit 4 (p20) of the actin-related protein 2/3 (ARP2/3) complex, which is essential for actin nucleation and the formation of branched actin networks. The ARP2/3 complex is composed of seven subunits (ARPC1-5, ACTR2, ACTR3) and is activated by WASP/WAVE family proteins. ARPC4 is required for complex stability and proper localization. Mutations in ARPC4 have been associated with neurodevelopmental disorders and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations impair ARP2/3 complex assembly, disrupting actin dynamics in neurons | ClinVar (VCV000974607) |
| Colorectal cancer | Overexpression of ARPC4 promotes cell migration and invasion via enhanced actin polymerization | COSMIC (COSG6130) |
| Breast cancer | ARPC4 amplification correlates with poor prognosis and metastatic potential | COSMIC (COSG6130) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | Medium |
| Lung | 12.3 | Medium |
| Liver | 8.7 | Low |
| Heart | 15.2 | Medium |
| Skeletal muscle | 22.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 20.4 | Cervical cancer cell line |
| A549 | 17.8 | Lung adenocarcinoma cell line |
| MCF7 | 14.2 | Breast cancer cell line |
| HEK293 | 19.6 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; truncated protein |
| c.248A>G (p.Tyr83Cys) | Missense | 0.001% | Impaired complex assembly |
| c.421_423del (p.Lys141del) | In-frame deletion | Rare | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg113*) lead to truncated ARPC4, disrupting ARP2/3 complex integrity and actin nucleation.
Gain of Function (GOF)
Not reported; no activating mutations documented in COSMIC or ClinVar.
Dominant Negative (DN)
Missense mutations (e.g., p.Tyr83Cys) may produce a defective subunit that poisons complex function.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • actin cortical patch (GO:0030479) |
| • Arp2/3 complex (GO:0034314) | • actin filament polymerization (GO:0051015) |
| • regulation of actin filament polymerization (GO:0030833) |
Pathways
• Actin nucleation by ARP2/3 complex (Reactome R-HSA-201688)
• Regulation of actin cytoskeleton (KEGG hsa04810)
• WASP/WAVE signaling (Reactome R-HSA-5663213)
Protein Summary
ARPC4 (p20-ARC) is a 168-amino-acid protein (18.5 kDa) that forms part of the ARP2/3 complex. It stabilizes the complex by bridging ARPC1 and ARPC5. The protein contains a conserved actin-related protein (ARP) domain and is essential for the nucleation of branched actin filaments. Post-translational modifications include phosphorylation at Ser77, which modulates complex activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARPC4-TTLL3 Knockout HEK293 Cell Line | EDJ-KQ52468 | Human | 100526693 | Details Get a Quote |
| ARPC4-TTLL3 Knockout HeLa Cell Line | EDJ-KQ60931 | Human | 100526693 | Details Get a Quote |
| ARPC4-TTLL3 Knockout A-549 Cell Line | EDJ-KQ69406 | Human | 100526693 | Details Get a Quote |
| ARPC4-TTLL3 Knockout HCT 116 Cell Line | EDJ-KQ77757 | Human | 100526693 | Details Get a Quote |
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