Property Summary

NCBI Gene PubMed Count 145
PubMed Score 0.00
PubTator Score 204.34

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (3)

Disease log2 FC p
Duchenne muscular dystrophy -1.911 0.006
juvenile dermatomyositis -1.166 0.012
acute quadriplegic myopathy -2.390 0.026

Gene RIF (147)

PMID Text
27075997 ACTN3 and ACE genotypes influence sprint time in elite male athletes; No genotype differences were detected in sprint performance in both Caucasian and African ancestry sprinters
26802899 New insights that have been made in understanding the molecular mechanisms that underlie the consequences of alpha-actinin-3 deficiency.
26248038 F-actin and cell-matrix adhesions differently affect membrane dynamics and cell migration.
26107372 The ACTN3 R577X polymorphism is associated with cardiometabolic fitness in healthy young adults.
25939605 The present study provides novel findings associating the ACTN3 R577X polymorphism with physiological variables that are connected to endurance performance.
25831089 Authors present a simple and cost-efficient method to genotype the ACTN3 r577x polymorphism by a single PCR.
25761735 Our results suggest that the ACTN3 R577X genotype is associated with lower-extremity muscle function in the Japanese population.
25761730 This study aimed at determining the influence of the ACTN3 R577X polymorphism on muscle strength and muscle endurance in non-athletic young men
25734782 This suggests that the ACTN3 gene has a greater impact on determining dynamic movements than influencing static muscle strength.
25687200 The ACTN3 R577X is associated with acute ankle sprains in this study.
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AA Sequence

MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIE      1 - 70
EDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASKGVKLVSIGAEEIVDGNLKMTLGM     71 - 140
IWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNVQNFHTSWKDGLALCALIHRHRPDLIDYAKL    141 - 210
RKDDPIGNLNTAFEVAEKYLDIPKMLDAEDIVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVL    211 - 280
AVNQENEKLMEEYEKLASELLEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLEI    281 - 350
NFNTLQTKLRLSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQHLAEKFRQKASLH    351 - 420
EAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRVEHIAALAQELNELDYHEAASVNSRC    421 - 490
QAICDQWDNLGTLTQKRRDALERMEKLLETIDRLQLEFARRAAPFNNWLDGAVEDLQDVWLVHSVEETQS    491 - 560
LLTAHDQFKATLPEADRERGAIMGIQGEIQKICQTYGLRPCSTNPYITLSPQDINTKWDMVRKLVPSCDQ    561 - 630
TLQEELARQQVNERLRRQFAAQANAIGPWIQAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKTNID    631 - 700
RLEGDHQLLQESLVFDNKHTVYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAKGLSQEQLNEFRASFN    701 - 770
HFDRKQNGMMEPDDFRACLISMGYDLGEVEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVA    771 - 840
SFKILAGDKNYITPEELRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESDL             841 - 901
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Text Mined References (147)

PMID Year Title
27075997 2016 ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.
26802899 2016 How does ?-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'.
26324221 2016 ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes.
26312134 2015 The actinin family of actin cross-linking proteins - a genetic perspective.
26284168 ACTN3 Polymorphism: Comparison Between Elite Swimmers and Runners.
26248038 2015 Disentangling Membrane Dynamics and Cell Migration; Differential Influences of F-actin and Cell-Matrix Adhesions.
26148057 2016 The genetics of human running: ACTN3 polymorphism as an evolutionary tool improving the energy economy during locomotion.
26125182 2015 Correction: Altered Ca2+ Kinetics Associated with ?-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution.
26107372 2015 The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.
25939605 2016 Influence of ACTN3 R577X polymorphism on ventilatory thresholds related to endurance performance.
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