CAP2 Gene - Cyclase Associated Actin Cytoskeleton Regulatory Protein 2
Comprehensive genomic and functional overview of CAP2, a key regulator of actin dynamics and cardiac development.
Gene Information Card
| Symbol | CAP2 |
|---|---|
| Full Name | Cyclase Associated Actin Cytoskeleton Regulatory Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 10486 ncbi.nlm.nih.gov/gene/10486 |
| Ensembl ID | ENSG00000112182 |
| UniProt ID | P40123 |
| OMIM ID | 618520 |
| HGNC ID | 20039 |
| Aliases | CAP, CAP2, MGC119173, MGC119175 |
Description
CAP2 encodes cyclase-associated protein 2, a member of the CAP family of actin-binding proteins. It regulates actin filament dynamics by sequestering actin monomers and promoting cofilin-mediated actin depolymerization. CAP2 is highly expressed in heart and skeletal muscle and plays a critical role in cardiac development and function. Mutations in CAP2 are associated with dilated cardiomyopathy and other cardiac disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy (DCM) | Loss-of-function mutations disrupt actin dynamics, impairing cardiac contractility. | ClinVar, OMIM |
| Left Ventricular Noncompaction (LVNC) | Altered actin regulation leads to abnormal myocardial trabeculation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal Muscle | 38.7 | High |
| Brain | 12.1 | Medium |
| Liver | 3.5 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 52.3 | High expression in differentiated cardiac cells |
| HeLa | 8.4 | Moderate |
| HEK293 | 6.1 | Moderate |
| HepG2 | 2.9 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced actin binding; associated with DCM |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Impaired cofilin interaction; LVNC |
| c.763_764del (p.Leu255fs) | Frameshift | <0.01% | Loss of function; severe DCM |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense mutations that disrupt actin binding or cofilin interaction lead to loss of actin regulatory function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by sequestering actin monomers without proper recycling.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin cytoskeleton organization (GO:0030036) |
| • barbed-end actin filament capping (GO:0051016) | • actin filament severing (GO:0051017) |
| • plasma membrane (GO:0005886) |
Pathways
• Actin cytoskeleton regulation (Reactome R-HSA-5663213)
• Cofilin-mediated actin depolymerization (Reactome R-HSA-5663221)
Protein Summary
CAP2 is a 474-amino acid protein that localizes to the cytoplasm and plasma membrane. It contains an N-terminal CAP domain and a C-terminal actin-binding domain. CAP2 binds to actin monomers and promotes their recycling from pointed ends to barbed ends, facilitating rapid actin turnover. It also interacts with adenylyl cyclase and cofilin. The protein is essential for normal cardiac development and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAP2 Knockout HEK293 Cell Line | EDJ-KQ7061 | Human | 10486 | Details Get a Quote |
| CAP2 Knockout A-549 Cell Line | EDJ-KQ30489 | Human | 10486 | Details Get a Quote |
| CAP2 Knockout HCT 116 Cell Line | EDJ-KQ31869 | Human | 10486 | Details Get a Quote |
| CAP2 Knockout HeLa Cell Line | EDJ-KQ31870 | Human | 10486 | Details Get a Quote |
