ACTN3 (actinin alpha 3)

2014-08-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
ACTN3D
FUSION GENES

Other Information

Locus ID:

NCBI: 89
MIM: 102574
HGNC: 165
Ensembl: ENSG00000248746

Variants:

dbSNP: 89
ClinVar: 89
TCGA: ENSG00000248746
COSMIC: ACTN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000248746ENST00000502692A0A087WSZ2
ENSG00000248746ENST00000511191D6RH00
ENSG00000248746ENST00000513398Q08043

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Cell-Cell communicationREACTOMER-HSA-1500931
Nephrin interactionsREACTOMER-HSA-373753

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
128793652003ACTN3 genotype is associated with human elite athletic performance.145
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
157184052005ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.57
157184052005ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.57
158867112005Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.49
178486032007ACTN3 (R577X) genotype is associated with fiber type distribution.49
178486032007ACTN3 (R577X) genotype is associated with fiber type distribution.49
170336842007Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.42
170336842007Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.42
152218602004A gene for speed? The evolution and function of alpha-actinin-3.40

Citation

Dessen P

ACTN3 (actinin alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54104/actn3