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Gene: ACTN3 (actinin alpha 3 (gene/pseudogene)) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ACTN3
Alliance Gene
NCBI 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



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