AutismKB 2.0

Annotation Details for ACTN3


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Basic Information Top
Gene Symbol:ACTN3 ( MGC117002,MGC117005 )
Gene Full Name: actinin, alpha 3
Band: 11q13.2
Quick LinksEntrez ID:89; OMIM: 102574; Uniprot ID:ACTN3_HUMAN; ENSEMBL ID: ENSG00000248746; HGNC ID: 165
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IDA-intracellular21784188
GO:0005829TAS-cytosol-
GO:0005884TAS-actin filament1339456
GO:0005925IMP-focal adhesion16807302
GO:0031143TAS-pseudopodium1629252
GO:0070062IDA-extracellular exosome23533145
GO ID Evidence Qualifier GO_term References
GO:0003779IEA-actin binding-
GO:0005178TAS-integrin binding8104223
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding11171996
GO:0008307TAS-structural constituent of muscle1339456
GO:0042803TAS-protein homodimerization activity15841212
GO:0044325IPI-ion channel binding19943616
GO ID Evidence Qualifier GO_term References
GO:0014728ISS-regulation of the force of skeletal muscle contraction-
GO:0014732ISS-skeletal muscle atrophy-
GO:0014883ISS-transition between fast and slow fiber-
GO:0014894ISS-response to denervation involved in regulation of muscle adaptation-
GO:0030049TAS-muscle filament sliding-
GO:0042981NAS-regulation of apoptotic process16807302
GO:0045820ISS-negative regulation of glycolytic process-
GO:0048041IMP-focal adhesion assembly16807302
GO:0048633ISS-positive regulation of skeletal muscle tissue growth-
GO:0070885ISS-negative regulation of calcineurin-NFAT signaling cascade-
GO:0090324ISS-negative regulation of oxidative phosphorylation-
GO:1903715ISS-regulation of aerobic respiration-
GO:1904025ISS-positive regulation of glucose catabolic process to lactate via pyruvate-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ACTN3ACTN21066039675099 Affinity Capture-Western; Far Western; Reconstituted Complex
ACTN3ACTN21066049675099 Affinity Capture-Western; Far Western; Reconstituted Complex
MYPNACTN312418511309420 Two-hybrid
MYPNACTN310660411309420 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:99678
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-000329-9'