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Gene: ACTN3 (actinin alpha 3 (gene/pseudogene)) Homo sapiens
Symbol: ACTN3
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: actinin alpha 3; actinin, alpha 3; ACTN3D; alpha-actinin skeletal muscle; alpha-actinin-3; F-actin cross-linking protein; MGC117002; MGC117005
Mus musculus (house mouse) : Actn3 (actinin alpha 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Actn3 (actinin alpha 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Actn3 (actinin alpha 3)
Pan paniscus (bonobo/pygmy chimpanzee) : ACTN3 (actinin alpha 3)
Canis lupus familiaris (dog) : ACTN3 (actinin alpha 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Actn3 (actinin alpha 3)
Sus scrofa (pig) : ACTN3 (actinin alpha 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381166,546,395 - 66,563,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371166,314,312 - 66,330,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361166,070,967 - 66,087,373 (+)NCBINCBI36hg18NCBI36
Build 341166,070,966 - 66,087,373NCBI
Celera1163,634,667 - 63,651,076 (+)NCBI
Cytogenetic Map11q13.2NCBI
HuRef1162,641,774 - 62,658,713 (+)NCBIHuRef
CHM1_11166,197,591 - 66,214,533 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on ACTN3
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 734136
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.