ACTN3

actinin alpha 3, the group of Actinins

Basic information

Region (hg38): 11:66546395-66563334

Links

ENSG00000248746

∙ NCBI:89 ∙ OMIM:102574 ∙ HGNC:165 ∙ Uniprot:Q08043 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
ACTN3 deficiency	AR	General	The clinical relevance is unclear	Musculoskeletal	10192379; 11845199; 12879365; 15886711; 17033684; 17627799; 17828264

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACTN3 gene.

not_specified (184 variants)
ACTN3-related_disorder (20 variants)
not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTN3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001104.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	10 clinvar	1 clinvar	12
missense			180 clinvar	6 clinvar	6 clinvar	192
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	182	16	7

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.;
Pathway: Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human);Arrhythmogenic Right Ventricular Cardiomyopathy;Striated Muscle Contraction;erk and pi-3 kinase are necessary for collagen binding in corneal epithelia;ucalpain and friends in cell spread;integrin signaling pathway;Striated Muscle Contraction;Muscle contraction;Nephrin family interactions;Cell-Cell communication;Signaling events mediated by focal adhesion kinase (Consensus)

Haploinsufficiency Scores

pHI: 0.901
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.539

Mouse Genome Informatics

Gene name: Actn3
Phenotype: homeostasis/metabolism phenotype; muscle phenotype;

Zebrafish Information Network

Gene name: actn3a
Affected structure: atrium
Phenotype tag: abnormal
Phenotype quality: dilated

Gene ontology

Biological process: regulation of the force of skeletal muscle contraction;skeletal muscle atrophy;transition between fast and slow fiber;response to denervation involved in regulation of muscle adaptation;muscle filament sliding;regulation of apoptotic process;negative regulation of glycolytic process;focal adhesion assembly;positive regulation of skeletal muscle tissue growth;negative regulation of calcineurin-NFAT signaling cascade;negative regulation of oxidative phosphorylation;negative regulation of cold-induced thermogenesis;regulation of aerobic respiration;positive regulation of glucose catabolic process to lactate via pyruvate
Cellular component: cytosol;actin filament;focal adhesion;pseudopodium;extracellular exosome
Molecular function: actin binding;integrin binding;calcium ion binding;protein binding;structural constituent of muscle;protein homodimerization activity;ion channel binding