ACTN2 encodes actinin alpha 2 (894 aa). F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein Highest expression in Muscle Skeletal (1,297 TPM) and Heart Left Ventricle (586.9 TPM).

Dilated cardiomyopathy 1AA is associated with mutations in the ACTN2 gene on chromosome 1.

The ACTN2 protein participates in CaMKII and LRRC7 bind to NMDA receptors at postsynaptic density and Negative regulation of NMDA receptor-mediated neuronal transmission pathways.

ACTN2 is classified as a druggable target (Druggable Genome and Transporter categories) with score 4.7.

82 pathogenic variants reported in ACTN2 in ClinVar, including hotspot variants 1220240 and 986096.

Genetic testing for ACTN2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for dilated cardiomyopathy 1AA has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 1 common feature.

No clinical trials have been registered for dilated cardiomyopathy 1AA.

184 publications have been identified in PubMed for dilated cardiomyopathy 1AA. Research spans Basic Science / Preclinical (23%), Review / Meta-Analysis (19%), and Case Report / Case Series (18%).

Recent Publications

• Jiang J (2026). [PMID: 41580760](https://pubmed.ncbi.nlm.nih.gov/41580760/). *J Transl Med*. [Diagnostic / Biomarker]

• Meena H (2026). [PMID: 42233914](https://pubmed.ncbi.nlm.nih.gov/42233914/). *JACC Case Rep*. [Case Report / Case Series]

• Wei M (2026). [PMID: 41540467](https://pubmed.ncbi.nlm.nih.gov/41540467/). *Stem Cell Res Ther*. [Basic Science / Preclinical]

• Nusrat A (2026). [PMID: 41477684](https://pubmed.ncbi.nlm.nih.gov/41477684/). *Circ Heart Fail*. [Basic Science / Preclinical]

• Tang Q (2026). [PMID: 42243863](https://pubmed.ncbi.nlm.nih.gov/42243863/). *BMC Med*. [Basic Science / Preclinical]

• Parodi A (2026). [PMID: 42238652](https://pubmed.ncbi.nlm.nih.gov/42238652/). *Rev Cardiovasc Med*. [Review / Meta-Analysis]

• Manohar A (2026). [PMID: 40846526](https://pubmed.ncbi.nlm.nih.gov/40846526/). *J Cardiovasc Comput Tomogr*. [Diagnostic / Biomarker]

• Wang Y (2026). [PMID: 41391576](https://pubmed.ncbi.nlm.nih.gov/41391576/). *Cardiovasc Pathol*. [Basic Science / Preclinical]

• Arslan A (2026). [PMID: 42165793](https://pubmed.ncbi.nlm.nih.gov/42165793/). *Neuro Endocrinol Lett*. [Epidemiology / Natural History]

• Sirohi A (2026). [PMID: 41953868](https://pubmed.ncbi.nlm.nih.gov/41953868/). *J Med Cases*. [Case Report / Case Series]