ACTN3 (actinin alpha 3)

2014-08-01  

Identity

HGNC
ACTN3
LOCATION
11q13.2
LOCUSID
89
ALIAS
ACTN3D
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
N/A

References

Pubmed IDYearTitleCitations
380936402024Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes.0
385404452024ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players.0
380936402024Principal components analysis to evaluate complex association of polymorphisms in ACE and ACTN3 genes and the extent of cardiovascular adaptive changes in elite athletes.0
385404452024ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players.0
347733242023ACTN3 genotype influences masseter muscle characteristics and self-reported bruxism.4
355931812023Genetic polymorphisms related to muscular strength and flexibility are associated with artistic gymnastic performance in the Japanese population.2
362204492023Moderate exercise reveals the influence of ACTN3 R577X and ACE I/D polymorphisms on physical performance in non-athlete active subjects.0
367878032023The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis.0
368130622023Association between basketball playing position and ACTN3 R577X polymorphism in athletes of first division Brazilian Basketball League.1
369014132023Prevalence of Polymorphism and Post-Training Expression of ACTN3 (R/X) and ACE (I/D) Genes in CrossFit Athletes.0
369929382023Association between ACE and ACTN3 genes polymorphisms and athletic performance in elite and sub-elite Chinese youth male football players.2
373723742023Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses.2
376285642023Association of the ACTN3 Gene's Single-Nucleotide Variant Rs1815739 (R577X) with Sports Qualification and Competitive Distance in Caucasian Athletes of the Southern Urals.0
379485612023Genetic polymorphisms in the angiotensin converting enzyme, actinin 3 and paraoxonase 1 genes in women with diabetes and hypertension.0
347733242023ACTN3 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/actn3-(actinin-alpha-3)