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: 89
MIM: 102574
HGNC: 165
Ensembl: ENSG00000248746
Variants:
dbSNP: 89
ClinVar: 89
TCGA: ENSG00000248746
COSMIC: ACTN3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000248746 | ENST00000502692 | A0A087WSZ2 |
| ENSG00000248746 | ENST00000511191 | D6RH00 |
| ENSG00000248746 | ENST00000513398 | Q08043 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38093640 | 2024 | Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes. | 0 |
| 38540445 | 2024 | ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players. | 0 |
| 38093640 | 2024 | Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes. | 0 |
| 38540445 | 2024 | ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players. | 0 |
| 34773324 | 2023 | ACTN3 genotype influences masseter muscle characteristics and self-reported bruxism. | 4 |
| 35593181 | 2023 | Genetic polymorphisms related to muscular strength and flexibility are associated with artistic gymnastic performance in the Japanese population. | 2 |
| 36220449 | 2023 | Moderate exercise reveals the influence of ACTN3 R577X and ACE I/D polymorphisms on physical performance in non-athlete active subjects. | 0 |
| 36787803 | 2023 | The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis. | 0 |
| 36813062 | 2023 | Association between basketball playing position and ACTN3 R577X polymorphism in athletes of first division Brazilian Basketball League. | 1 |
| 36901413 | 2023 | Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes. | 0 |
| 36992938 | 2023 | Association between ACE and ACTN3 genes polymorphisms and athletic performance in elite and sub-elite Chinese youth male football players. | 2 |
| 37372374 | 2023 | Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses. | 2 |
| 37628564 | 2023 | Association of the ACTN3 Gene's Single-Nucleotide Variant Rs1815739 (R577X) with Sports Qualification and Competitive Distance in Caucasian Athletes of the Southern Urals. | 0 |
| 37948561 | 2023 | Genetic polymorphisms in the angiotensin converting enzyme, actinin 3 and paraoxonase 1 genes in women with diabetes and hypertension. | 0 |
| 34773324 | 2023 | ACTN3 genotype influences masseter muscle characteristics and self-reported bruxism. | 4 |
Citation
Dessen P
ACTN3 (actinin alpha 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54104/chromosome-explorer/cookies-notice
