ACTN2 Gene - Alpha-Actinin 2
Key sarcomeric protein in cardiac and skeletal muscle function
Gene Information Card
| Symbol | ACTN2 |
|---|---|
| Full Name | Actinin Alpha 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q43 |
| NCBI Gene ID | 88 ncbi.nlm.nih.gov/gene/88 |
| Ensembl ID | ENSG00000077522 |
| UniProt ID | P35609 |
| OMIM ID | 102573 |
| HGNC ID | 164 |
| Aliases | CMD1AA, CMH23, MYPC6 |
Description
The ACTN2 gene encodes alpha-actinin 2, a member of the spectrin family of actin-binding proteins. It is a major component of the sarcomeric Z-disc in cardiac and skeletal muscle, where it cross-links actin filaments and anchors titin and other structural proteins. ACTN2 is essential for maintaining muscle contractile integrity and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy 1AA (CMD1AA) | Mutations disrupt Z-disc structure, impairing force transmission | ClinVar, OMIM |
| Hypertrophic cardiomyopathy 23 (CMH23) | Dominant-negative or gain-of-function effects alter sarcomere assembly | ClinVar, OMIM |
| Nemaline myopathy 6 | Loss of actin cross-linking leads to nemaline rod formation | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 78.5 | High |
| Skeletal muscle | 65.2 | High |
| Esophagus | 12.3 | Medium |
| Adipose tissue | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 85.0 | High expression |
| Skeletal muscle myoblasts (C2C12) | 70.3 | High expression |
| HEK293 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Ala119Thr | Missense | <0.01% | Altered actin binding |
| p.Arg9His | Missense | <0.01% | Reduced Z-disc stability |
| p.Gln9Arg | Missense | <0.01% | Associated with CMH23 |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., truncations) reduce actin cross-linking, leading to dilated cardiomyopathy.
Gain of Function (GOF)
Gain-of-function mutations (e.g., p.Ala119Thr) may enhance actin binding, contributing to hypertrophic cardiomyopathy.
Dominant Negative (DN)
Dominant-negative mutations disrupt sarcomere assembly, causing nemaline myopathy or cardiomyopathy.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003779 (actin binding) | • GO:0005865 (striated muscle thin filament) |
| • GO:0030018 (Z disc) | • GO:0006936 (muscle contraction) |
| • GO:0051015 (actin filament binding) |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Striated muscle contraction (Reactome: R-HSA-390522)
• Titin/telethonin pathway
Protein Summary
Alpha-actinin 2 is a 103 kDa protein that forms antiparallel homodimers, cross-linking actin filaments at the Z-disc. It contains an N-terminal actin-binding domain, four spectrin repeats, and a C-terminal EF-hand calcium-binding domain. It interacts with titin, myotilin, and other sarcomeric proteins to maintain structural integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTN2 Knockout HEK293 Cell Line | EDJ-KQ3114 | Human | 88 | Details Get a Quote |
| ACTN2 Knockout HeLa Cell Line | EDJ-KQ52542 | Human | 88 | Details Get a Quote |
| ACTN2 Knockout A-549 Cell Line | EDJ-KQ61026 | Human | 88 | Details Get a Quote |
| ACTN2 Knockout HCT 116 Cell Line | EDJ-KQ69501 | Human | 88 | Details Get a Quote |
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