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Gene : ACTN3 Homo sapiens

Name  ? actinin alpha 3 (gene/pseudogene) Cytological Location  11q13.2
Brief Description  actinin alpha 3 (gene/pseudogene)
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:
  • ACTN3,
  • actinin, alpha 3,
  • ACTN3D,
  • NM_001104,
  • HGNC:165,
  • OTTHUMG00000160815,
  • uc021qlz.4,
  • M86407
  • identifiers:
  • 89,
  • ENSG00000248746,
  • ACTN3

Genome feature

Region: gene ? Length: 16935  
Location: 11:66546395-66563329 Cyto location: 11q13.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

18 Data Sets

19 Homologues

0 Located Features

90 Rna Seq Results