ACTN3 - actinin alpha 3 Gene

Homo sapiens

Also known as ACTN3D

Gene ID: 89 | Gene type: protein coding

About ACTN3

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,546,395-66,563,334 (from NCBI)

This gene has 3 transcripts (splice variants), 94 orthologues, 36 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 1.6), prostate (RPKM 0.6) and 2 other tissues.

Summary

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]

ACTN3 Products(2)

mRNA	Protein	Name
NM_001104.4	NP_001095.2	alpha-actinin-3 isoform 1
NM_001258371.3	NP_001245300.2	alpha-actinin-3 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11171996	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	19943616	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in focal adhesion assembly	IMP IMP: Inferred from mutant phenotype	16807302	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in focal adhesion	IMP IMP: Inferred from mutant phenotype	16807302	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

alpha-actinin-3

F-actin cross-linking protein

Related Diseases

Diseases

Alias

Actn3 Deficiency

Sprinting Performance

Alpha-Actinin-3 Deficiency

Bruxism

Sleep Bruxism	Sleep-Related Bruxism
Bruxism - Teeth Grinding	Grinding Teeth
Sleep Related Bruxism	Teeth Grinding
Sleep Related Teeth Grinding

Glycogen Storage Disease V

Mcardle Disease	Myophosphorylase Deficiency
Glycogen Storage Disease Type V	Muscle Glycogen Phosphorylase Deficiency
Pygm Deficiency	Gsd V
Glycogen Storage Disease, Type V	Glycogenosis Type V
Glycogen Storage Disease Type 5	GSD5
Pygmy	Mcardle'S Disease
Mcardle Type Glycogen Storage Disease	Gsd Type V
Pygmy, African	Gsdv
Gsd 5	Glycogenosis 5
Mcardle Syndrome	Muscle Phosphorylase Deficiency
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Gsd Due To Muscle Glycogen Phosphorylase Deficiency
Gsd Type 5	Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency
Glycogenosis Type 5	Glycogen Storage Disease 5
Gsd-V	Mcardles Disease
Storage Disease, Glycogen, Type V

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia	Arvc
Arvd	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arvc Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
Arvd/C	Right Ventricular Dysplasia, Arrhythmogenic
Ventricular Dysplasia, Right, Arrhythmogenic	Cardiomyopathy, Ventricular, Right, Arrhythmogenic
Dysplasia, Arrhythmogenic Right Ventricular

Scoliosis

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00225	ACTN3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ACTN3	VGNC	VGNC:99537
Mus musculus	ACTN3	MGD	MGI:99678
Bos taurus	ACTN3	VGNC	VGNC:53654
Rattus norvegicus	ACTN3	RGD	RGD:621792
Felis catus	ACTN3	VGNC	VGNC:99807
Canis familiaris	ACTN3	VGNC	VGNC:54902

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