CAPZA2 Gene - F-Actin Capping Protein Alpha 2
A key regulator of actin filament dynamics, implicated in cell motility and cancer progression.
Gene Information Card
| Symbol | CAPZA2 |
|---|---|
| Full Name | capping actin protein of muscle Z-line subunit alpha 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.2 |
| NCBI Gene ID | 830 ncbi.nlm.nih.gov/gene/830 |
| Ensembl ID | ENSG00000106636 |
| UniProt ID | P47755 |
| OMIM ID | 601571 |
| HGNC ID | 1490 |
| Aliases | CAPPA2, CAPZ, MGC104232 |
Description
CAPZA2 encodes the alpha-2 subunit of the F-actin capping protein, which binds to the barbed ends of actin filaments, preventing both addition and loss of actin monomers. This regulation is critical for maintaining cytoskeletal structure, cell motility, and intracellular transport. The protein is ubiquitously expressed with highest levels in muscle tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of actin capping alters cell migration and invasion, promoting metastasis. | COSMIC; PMID: 25691885 |
| Cardiomyopathy | Mutations affecting actin filament stability may impair cardiac contractility. | ClinVar; PMID: 27532257 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart muscle | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Brain cortex | 12.1 | Medium |
| Liver | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.4 | Cervical cancer line |
| A549 | 28.1 | Lung carcinoma |
| K562 | 15.6 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.520G>A (p.Glu174Lys) | Missense | 0.01% (COSMIC) | Reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CAPZA2 are rare but may disrupt actin capping, leading to uncontrolled actin polymerization and altered cell morphology.
Gain of Function (GOF)
Gain-of-function mutations have not been clearly documented; overexpression in tumors suggests potential oncogenic role.
Dominant Negative (DN)
Dominant-negative effects are hypothesized for certain missense variants that impair heterodimer formation with CAPZB.
View complete mutation data：
Gene Ontology (GO)
| • actin filament capping | • barbed-end actin filament capping |
| • actin cytoskeleton organization | • cell migration |
| • regulation of actin polymerization |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
CAPZA2 is a 293-amino acid protein that forms a heterodimer with CAPZB to create the functional capping protein. It localizes to the Z-line in muscle and to the leading edge of migrating cells. The protein contains a conserved capping domain that mediates actin binding. Post-translational modifications include phosphorylation, which may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPZA2 Knockout HEK293 Cell Line | EDJ-KQ4193 | Human | 830 | Details Get a Quote |
| CAPZA2 Knockout HeLa Cell Line | EDJ-KQ25327 | Human | 830 | Details Get a Quote |
| CAPZA2 Knockout A-549 Cell Line | EDJ-KQ26648 | Human | 830 | Details Get a Quote |
| CAPZA2 Knockout HCT 116 Cell Line | EDJ-KQ26649 | Human | 830 | Details Get a Quote |
