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Gene : ACTN3 Homo sapiens

Name  ? actinin alpha 3 Cytological Location  11q13.2
Brief Description  actinin alpha 3
Description  This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
  • synonyms:
  • actinin alpha 3 (gene/pseudogene),
  • NM_001104,
  • ACTN3D,
  • actinin, alpha 3,
  • ACTN3,
  • OTTHUMG00000160815,
  • HGNC:165,
  • M86407,
  • uc021qlz.4
  • identifiers:
  • 89,
  • ENSG00000248746,
  • ACTN3

Genome feature

Region: gene ? Length: 16940  
Location: 11:66546395-66563334 Cyto location: 11q13.2

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Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Structure Displayer

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Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results