Identity
HGNC
LOCATION
1q43
LOCUSID
ALIAS
CMD1AA,CMH23,MPD6,MYOCOZ
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 88
MIM: 102573
HGNC: 164
Ensembl: ENSG00000077522
Variants:
dbSNP: 88
ClinVar: 88
TCGA: ENSG00000077522
COSMIC: ACTN2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38311799 | 2024 | Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. | 0 |
| 38311799 | 2024 | Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. | 0 |
| 37271035 | 2023 | Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain. | 0 |
| 37834023 | 2023 | Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2. | 2 |
| 37271035 | 2023 | Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain. | 0 |
| 37834023 | 2023 | Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2. | 2 |
| 36078153 | 2022 | ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes. | 8 |
| 36116040 | 2022 | Mutation update for the ACTN2 gene. | 8 |
| 36078153 | 2022 | ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes. | 8 |
| 36116040 | 2022 | Mutation update for the ACTN2 gene. | 8 |
| 33482578 | 2021 | Sleeping Beauty insertional mutagenesis screen identifies the pro-metastatic roles of CNPY2 and ACTN2 in hepatocellular carcinoma tumor progression. | 8 |
| 34802252 | 2021 | Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. | 6 |
| 33482578 | 2021 | Sleeping Beauty insertional mutagenesis screen identifies the pro-metastatic roles of CNPY2 and ACTN2 in hepatocellular carcinoma tumor progression. | 8 |
| 34802252 | 2021 | Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. | 6 |
| 32040219 | 2020 | ACTN2 (rs6656267) and MPPED2 (rs11031093 and rs536007) polymorphisms in primary dentition caries: A case-control study. | 0 |
Citation
Dessen P
ACTN2 (actinin alpha 2)
Atlas Genet Cytogenet Oncol Haematol. 2009-06-01
Online version: http://atlasgeneticsoncology.org/gene/50941/actn2
