Gene: ACTN3

89
ACTN3D
actinin alpha 3 (gene/pseudogene)
protein-coding
11q13.2
Ensembl:ENSG00000248746 MIM:102574 Vega:OTTHUMG00000160815 UniprotKB:Q08043
NG_013304.2
PubMed|SNP Mapped
1   ANCO-SNPs
ND|AD
1   
NA (AD)  NA (ND)   (Frontal_Cortex)
3.953e-2 (AD)  7.331e-2 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs484358chr11:66551791 (GRCh38.p7)G>Aalcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
ATP2A10.584
ACTA10.569
TTN0.568
KRT260.56
MEOX10.554
DUSP130.553
FOXB20.542
XIRP20.539
CD1B0.539
HOXC120.538

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
NAT2-0.192
BTBD17-0.189
DDO-0.186
RNASE8-0.183
PIGP-0.182
ABHD1-0.18
TMEM253-0.178
PTCRA-0.176
RAB41-0.175
TLCD1-0.172

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with mercuric bromide co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with trichostatin A co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
C0352074-amino-2,6-dinitrotoluene"4-amino-2,6-dinitrotoluene affects the expression of ACTN3 mRNA"21346803
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with mercuric bromide co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with trichostatin A co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
D000643Ammonium ChlorideAmmonium Chloride affects the expression of ACTN3 mRNA16483693
C006632arsenic trioxidearsenic trioxide results in decreased expression of ACTN3 mRNA20458559
D004958EstradiolEstradiol results in decreased expression of ACTN3 mRNA19484750
C006780bisphenol Abisphenol A results in increased expression of ACTN3 mRNA26063408
C006780bisphenol A[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of ACTN3 promoter23359474
C006780bisphenol Abisphenol A results in increased expression of ACTN3 mRNA18180321
C031180chrysenechrysene results in increased expression of ACTN3 mRNA26377693
D003993Dibutyl Phthalate[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of ACTN3 promoter23359474
D019422Dietary SucroseDietary Sucrose results in increased expression of ACTN3 mRNA26033743
D004051Diethylhexyl Phthalate[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of ACTN3 promoter23359474
C058705diethyl malatediethyl malate affects the expression of ACTN3 mRNA24814887
D004052Diethylnitrosamine[Piperonyl Butoxide co-treated with Diethylnitrosamine] affects the methylation of ACTN3 gene23968726
D0151279,10-Dimethyl-1,2-benzanthracene"9,10-Dimethyl-1,2-benzanthracene results in decreased expression of ACTN3 mRNA"19480007
C039281furanfuran results in increased expression of ACTN3 mRNA25539665
D017313FenretinideFenretinide results in decreased expression of ACTN3 mRNA16467112
C045463leflunomideleflunomide results in decreased expression of ACTN3 mRNA19751817
C042720mercuric bromidemercuric bromide results in decreased expression of ACTN3 mRNA26272509
C042720mercuric bromide"[NOG protein co-treated with mercuric bromide co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
C004925methylmercuric chloridemethylmercuric chloride results in decreased expression of ACTN3 mRNA28001369
D0156551-Methyl-4-phenylpyridinium1-Methyl-4-phenylpyridinium results in decreased expression of ACTN3 mRNA24810058
C058346N-(4-methoxyphenyl)retinamideN-(4-methoxyphenyl)retinamide results in decreased expression of ACTN3 mRNA16467112
D009281NaphthalenesNaphthalenes results in increased expression of ACTN3 protein17337753
C014707nitrosobenzylmethylaminenitrosobenzylmethylamine results in decreased expression of ACTN3 mRNA17616710
C076994perfluorooctane sulfonic acidperfluorooctane sulfonic acid results in increased expression of ACTN3 mRNA22237054
D010662Phenylmercuric Acetate"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
D010662Phenylmercuric AcetatePhenylmercuric Acetate results in decreased expression of ACTN3 mRNA26272509
D010882Piperonyl Butoxide[Piperonyl Butoxide co-treated with Diethylnitrosamine] affects the methylation of ACTN3 gene23968726
C045950propiconazolepropiconazole results in decreased expression of ACTN3 mRNA21278054
D011441PropylthiouracilPropylthiouracil results in decreased expression of ACTN3 mRNA24780913
C100573prostaglandin A1prostaglandin A1 analog results in increased metabolism of ACTN3 protein19800325
D053260SootSoot results in increased expression of ACTN3 mRNA26551751
D013096SpermineSpermine results in increased expression of ACTN3 mRNA18673383
C009495titanium dioxidetitanium dioxide results in increased expression of ACTN3 mRNA23557971
D014118Toxins, Biological"Toxins, Biological affects the expression of ACTN3 mRNA"19682533
D014212TretinoinTretinoin results in decreased expression of ACTN3 mRNA21934132
C012589trichostatin A"[NOG protein co-treated with trichostatin A co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
C012589trichostatin Atrichostatin A results in decreased expression of ACTN3 mRNA26272509
D014635Valproic Acid"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ACTN3 mRNA"27188386
D014635Valproic AcidValproic Acid affects the expression of ACTN3 mRNA25979313
D014635Valproic AcidValproic Acid results in decreased expression of ACTN3 mRNA23179753|2438349
D001335Vehicle EmissionsVehicle Emissions results in decreased methylation of ACTN3 gene25560391
C029297vinylidene chloridevinylidene chloride results in increased expression of ACTN3 mRNA26682919
D015032ZincZinc deficiency results in decreased expression of ACTN3 mRNA19111725

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0003779actin binding-IEA-  
GO:0005178integrin binding-TAS8104223  
GO:0005509calcium ion binding-IEA-  
GO:0005515protein binding-IPI11171996  11309420  
GO:0008307structural constituent of muscle-TAS1339456  
GO:0042803protein homodimerization activity-TAS15841212  
GO:0044325ion channel binding-IPI19943616  
GO ID GO Term Qualifier Evidence PubMed
GO:0014728regulation of the force of skeletal muscle contraction-ISS-  
GO:0014732skeletal muscle atrophy-ISS-  
GO:0014883transition between fast and slow fiber-ISS-  
GO:0014894response to denervation involved in regulation of muscle adaptation-ISS-  
GO:0030049muscle filament sliding-TAS-  
GO:0042981regulation of apoptotic process-NAS16807302  
GO:0045820negative regulation of glycolytic process-ISS-  
GO:0048041focal adhesion assembly-IMP16807302  
GO:0048633positive regulation of skeletal muscle tissue growth-ISS-  
GO:0070885negative regulation of calcineurin-NFAT signaling cascade-ISS-  
GO:0090324negative regulation of oxidative phosphorylation-ISS-  
GO:1903715regulation of aerobic respiration-ISS-  
GO:1904025positive regulation of glucose catabolic process to lactate via pyruvate-ISS-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005622intracellular-IDA21784188  
GO:0005829cytosol-TAS-  
GO:0005884actin filament-TAS1339456  
GO:0005925focal adhesion-IMP16807302  
GO:0031143pseudopodium-TAS1629252  
GO:0070062extracellular exosome-HDA23533145  
KEGG ID KEGG Term
hsa04510Focal adhesion
hsa04520Adherens junction
hsa04530Tight junction
hsa04670Leukocyte transendothelial migration
hsa04810Regulation of actin cytoskeleton
hsa05146Amoebiasis
hsa05322Systemic lupus erythematosus
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Reactome ID Reactome Term Evidence
R-HSA-1500931Cell-Cell communicationIEA
R-HSA-373753Nephrin family interactionsIEA
R-HSA-390522Striated Muscle ContractionTAS
R-HSA-397014Muscle contractionTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

There is no Interaction data for this gene.

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
26919654ACTN3 GENE R577X POLYMORPHISM ASSOCIATED WITH HIGH-DENSITY LIPOPROTEIN CHOLESTEROL AND ADIPONECTIN IN RUGBY PLAYERS. (2016 Jul)Nirengi SEndocr Pract