2. Gene
  3. ACTN3 - actinin alpha 3 Gene

ACTN3 - actinin alpha 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

ACTN3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ACTN3 Q08043 CADPS Homo sapiens A2RRN7
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 CADPS Homo sapiens A2RRN7
Y2H Array
32296183
Intra
ACTN3 Q08043 RTP5 Homo sapiens Q14D33
Validated Y2H
32296183
Intra
ACTN3 Q08043 ZNF343 Homo sapiens Q6P1L6
Validated Y2H
32296183
Intra
ACTN3 Q08043 ZNF343 Homo sapiens Q6P1L6
Y2H Array
32296183
Intra
ACTN3 Q08043 ZNF343 Homo sapiens Q6P1L6
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 MAGEA6 Homo sapiens P43360
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 MAGEA6 Homo sapiens P43360
Y2H Array
32296183
Intra
ACTN3 Q08043 PKP2 Homo sapiens Q99959-2
Validated Y2H
32296183
Intra
ACTN3 Q08043 CTAG1A Homo sapiens P78358
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 CTAG1A Homo sapiens P78358
Y2H Array
32296183
Intra
ACTN3 Q08043 POU6F2 Homo sapiens P78424
Y2H Array
32296183
Intra
ACTN3 Q08043 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 LHX3 Homo sapiens Q9UBR4-2
Y2H Array
32296183
Intra
ACTN3 Q08043 LHX3 Homo sapiens Q9UBR4-2
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 LHX3 Homo sapiens Q9UBR4-2
Validated Y2H
32296183
Intra
ACTN3 Q08043 SYNPO2L Homo sapiens Q9H987-2
Validated Y2H
32296183
Intra
ACTN3 Q08043 CIMIP1 Homo sapiens Q9H1P6
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 CIMIP1 Homo sapiens Q9H1P6
Validated Y2H
32296183
Intra
ACTN3 Q08043 CIMIP1 Homo sapiens Q9H1P6
Y2H Array
32296183
Intra
ACTN3 Q08043 CXCL5 Homo sapiens P42830
Y2H Array
32296183
Intra
ACTN3 Q08043 CXCL5 Homo sapiens P42830
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 SOHLH1 Homo sapiens Q5JUK2
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 SOHLH1 Homo sapiens Q5JUK2
Validated Y2H
32296183
Intra
ACTN3 Q08043 SOHLH1 Homo sapiens Q5JUK2
Y2H Array
32296183
Intra
ACTN3 Q08043 NDUFAB1 Homo sapiens O14561
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 NDUFAB1 Homo sapiens O14561
Y2H Array
32296183
Intra
ACTN3 Q08043 ATP23 Homo sapiens Q9Y6H3
Y2H Array
32296183
Intra
ACTN3 Q08043 ATP23 Homo sapiens Q9Y6H3
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 ATP23 Homo sapiens Q9Y6H3
Validated Y2H
32296183
Intra
ACTN3 Q08043 PTK6 Homo sapiens Q13882
Validated Y2H
32296183
Intra
ACTN3 Q08043 HOXD12 Homo sapiens P35452-2
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 HOXD12 Homo sapiens P35452-2
Y2H Array
32296183
Intra
ACTN3 Q08043 MICALL2 Homo sapiens Q8IY33
Validated Y2H
32296183
Intra
ACTN3 Q08043 PPP1R18 Homo sapiens Q6NYC8
Validated Y2H
32296183
Intra
ACTN3 Q08043 KRT6C Homo sapiens P48668
Y2H Array
32296183
Intra
ACTN3 Q08043 KRT6C Homo sapiens P48668
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 IVD Homo sapiens P26440
Y2H Array
32296183
Intra
ACTN3 Q08043 IVD Homo sapiens P26440
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 ACTN4 Homo sapiens O43707
Y2H Array
32296183
Intra
ACTN3 Q08043 ASB9 Homo sapiens Q96DX5
Validated Y2H
32296183
Intra
ACTN3 Q08043 C2CD6 Homo sapiens Q53TS8
Validated Y2H
32296183
Intra
ACTN3 Q08043 ASB9 Homo sapiens Q96DX5
Y2H Array
32296183
Intra
ACTN3 Q08043 ACTN3 Homo sapiens Q08043
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 ACTN3 Homo sapiens Q08043
Validated Y2H
32296183
Intra
ACTN3 Q08043 ASB9 Homo sapiens Q96DX5
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 CTDSP1 Homo sapiens Q9GZU7
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 ACTN3 Homo sapiens Q08043
Y2H Array
32296183
Intra
ACTN3 Q08043 ACTN4 Homo sapiens O43707
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 MYOT Homo sapiens Q9UBF9
Validated Y2H
32296183
Intra
ACTN3 Q08043 TRAF1 Homo sapiens Q13077
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 TRAF1 Homo sapiens Q13077
Validated Y2H
32296183
Intra
ACTN3 Q08043 TRAF1 Homo sapiens Q13077
Y2H Array
32296183
Intra
ACTN3 Q08043 NKAPD1 Homo sapiens Q6ZUT1
Validated Y2H
32296183
Intra
ACTN3 Q08043 FAM90A1 Homo sapiens Q86YD7
Validated Y2H
32296183
Intra
ACTN3 Q08043 TRIM29 Homo sapiens Q14134
Validated Y2H
32296183
Intra
ACTN3 Q08043 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra
ACTN3 Q08043 GLIS2 Homo sapiens Q9BZE0
Validated Y2H
32296183
Intra
ACTN3 Q08043 LNX1 Homo sapiens Q8TBB1
Validated Y2H
32296183
Intra
ACTN3 Q08043 HGS Homo sapiens O14964
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 HGS Homo sapiens O14964
Y2H Array
32296183
Intra
ACTN3 Q08043 ZNF426 Homo sapiens Q9BUY5
Validated Y2H
32296183
Intra
ACTN3 Q08043 ZNF426 Homo sapiens Q9BUY5
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 ZNF426 Homo sapiens Q9BUY5
Y2H Array
32296183
Intra
ACTN3 Q08043 MYOZ1 Homo sapiens Q9NP98
Validated Y2H
32296183
Intra
ACTN3 Q08043 DDAH2 Homo sapiens O95865
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 DDAH2 Homo sapiens O95865
Y2H Array
32296183
Intra
ACTN3 Q08043 CTDSP1 Homo sapiens Q9GZU7
Y2H Array
32296183
Intra
ACTN3 Q08043 CTDSP1 Homo sapiens Q9GZU7
Validated Y2H
32296183
Intra
ACTN3 Q08043 ECM1 Homo sapiens Q16610
Y2H Array
32296183
Intra
ACTN3 Q08043 ECM1 Homo sapiens Q16610
Y2H Prey Pooling
32296183
Intra
ACTN3 Q08043 ECM1 Homo sapiens Q16610
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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