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ACTN3 (actinin alpha 3)

Identity

Alias (NCBI)ACTN3D
HGNC (Hugo) ACTN3
HGNC Previous nameactinin, alpha 3
 actinin alpha 3 (gene/pseudogene)
LocusID (NCBI) 89
Atlas_Id 54104
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 66546395 and ends at 66563329 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HOOK2 (19p13.2) / ACTN3 (11q13.2)TFEB (6p21.1) / ACTN3 (11q13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

Nomenclature
HGNC (Hugo)ACTN3   165
Cards
Entrez_Gene (NCBI)ACTN3    actinin alpha 3
AliasesACTN3D
GeneCards (Weizmann)ACTN3
Ensembl hg19 (Hinxton)ENSG00000248746 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000248746 [Gene_View]  ENSG00000248746 [Sequence]  chr11:66546395-66563329 [Contig_View]  ACTN3 [Vega]
ICGC DataPortalENSG00000248746
TCGA cBioPortalACTN3
AceView (NCBI)ACTN3
Genatlas (Paris)ACTN3
SOURCE (Princeton)ACTN3
Genetics Home Reference (NIH)ACTN3
Genomic and cartography
GoldenPath hg38 (UCSC)ACTN3  -     chr11:66546395-66563329 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACTN3  -     11q13.2   [Description]    (hg19-Feb_2009)
GoldenPathACTN3 - 11q13.2 [CytoView hg19]  ACTN3 - 11q13.2 [CytoView hg38]
ImmunoBaseENSG00000248746
genome Data Viewer NCBIACTN3 [Mapview hg19]  
OMIM102574   617749   
Gene and transcription
Genbank (Entrez)AJ346025 AK125851 AK303044 AK313556 AL043389
RefSeq transcript (Entrez)NM_001104 NM_001258371
Consensus coding sequences : CCDS (NCBI)ACTN3
Alternative Splicing GalleryENSG00000248746
Gene ExpressionACTN3 [ NCBI-GEO ]   ACTN3 [ EBI - ARRAY_EXPRESS ]   ACTN3 [ SEEK ]   ACTN3 [ MEM ]
Gene Expression Viewer (FireBrowse)ACTN3 [ Firebrowse - Broad ]
GenevisibleExpression of ACTN3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)89
GTEX Portal (Tissue expression)ACTN3
Human Protein AtlasENSG00000248746-ACTN3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08043   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08043  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08043
PhosPhoSitePlusQ08043
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    CH_dom_sf    EF-hand-dom_pair    EF-hand_Ca_insen    EF_hand_dom    Spectrin/alpha-actinin    Spectrin_repeat   
Domain families : Pfam (Sanger)CH (PF00307)    EFhand_Ca_insen (PF08726)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam08726    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  EFh (SM00054)  SPEC (SM00150)  
Conserved Domain (NCBI)ACTN3
PDB (RSDB)1TJT    1WKU    3LUE   
PDB Europe1TJT    1WKU    3LUE   
PDB (PDBSum)1TJT    1WKU    3LUE   
PDB (IMB)1TJT    1WKU    3LUE   
Structural Biology KnowledgeBase1TJT    1WKU    3LUE   
SCOP (Structural Classification of Proteins)1TJT    1WKU    3LUE   
CATH (Classification of proteins structures)1TJT    1WKU    3LUE   
SuperfamilyQ08043
AlphaFold pdb e-kbQ08043   
Human Protein Atlas [tissue]ENSG00000248746-ACTN3 [tissue]
HPRD02148
Protein Interaction databases
DIP (DOE-UCLA)Q08043
IntAct (EBI)Q08043
BioGRIDACTN3
STRING (EMBL)ACTN3
ZODIACACTN3
Ontologies - Pathways
QuickGOQ08043
Ontology : AmiGOintegrin binding  calcium ion binding  protein binding  cytosol  actin filament  brush border  focal adhesion  structural constituent of muscle  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  Z disc  muscle filament sliding  pseudopodium  positive regulation of fast-twitch skeletal muscle fiber contraction  identical protein binding  regulation of apoptotic process  ion channel binding  negative regulation of glycolytic process  focal adhesion assembly  positive regulation of skeletal muscle tissue growth  positive regulation of skeletal muscle fiber development  actin filament binding  bone morphogenesis  extracellular exosome  negative regulation of calcineurin-NFAT signaling cascade  negative regulation of oxidative phosphorylation  negative regulation of cold-induced thermogenesis  positive regulation of bone mineralization involved in bone maturation  negative regulation of relaxation of muscle  regulation of aerobic respiration  positive regulation of glucose catabolic process to lactate via pyruvate  
Ontology : EGO-EBIintegrin binding  calcium ion binding  protein binding  cytosol  actin filament  brush border  focal adhesion  structural constituent of muscle  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  Z disc  muscle filament sliding  pseudopodium  positive regulation of fast-twitch skeletal muscle fiber contraction  identical protein binding  regulation of apoptotic process  ion channel binding  negative regulation of glycolytic process  focal adhesion assembly  positive regulation of skeletal muscle tissue growth  positive regulation of skeletal muscle fiber development  actin filament binding  bone morphogenesis  extracellular exosome  negative regulation of calcineurin-NFAT signaling cascade  negative regulation of oxidative phosphorylation  negative regulation of cold-induced thermogenesis  positive regulation of bone mineralization involved in bone maturation  negative regulation of relaxation of muscle  regulation of aerobic respiration  positive regulation of glucose catabolic process to lactate via pyruvate  
Pathways : BIOCARTACell to Cell Adhesion Signaling [Genes]    Integrin Signaling Pathway [Genes]    uCalpain and friends in Cell spread [Genes]   
Pathways : KEGGFocal adhesion    Adherens junction    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton    Amoebiasis    Viral carcinogenesis    Systemic lupus erythematosus    Arrhythmogenic right ventricular cardiomyopathy (ARVC)   
NDEx NetworkACTN3
Atlas of Cancer Signalling NetworkACTN3
Wikipedia pathwaysACTN3
Orthology - Evolution
OrthoDB89
GeneTree (enSembl)ENSG00000248746
Phylogenetic Trees/Animal Genes : TreeFamACTN3
Homologs : HomoloGeneACTN3
Homology/Alignments : Family Browser (UCSC)ACTN3
Gene fusions - Rearrangements
Fusion : MitelmanHOOK2/ACTN3 [19p13.2/11q13.2]  
Fusion : QuiverACTN3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTN3
dbVarACTN3
ClinVarACTN3
MonarchACTN3
1000_GenomesACTN3 
Exome Variant ServerACTN3
GNOMAD BrowserENSG00000248746
Varsome BrowserACTN3
Genomic Variants (DGV)ACTN3 [DGVbeta]
DECIPHERACTN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACTN3 
Mutations
ICGC Data PortalACTN3 
TCGA Data PortalACTN3 
Broad Tumor PortalACTN3
OASIS PortalACTN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTN3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACTN3
Mutations and Diseases : HGMDACTN3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutasearch ACTN3
DgiDB (Drug Gene Interaction Database)ACTN3
DoCM (Curated mutations)ACTN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTN3 (select a term)
Cancer3DACTN3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102574    617749   
Orphanet
DisGeNETACTN3
MedgenACTN3
Genetic Testing Registry ACTN3
NextProtQ08043 [Medical]
GENETestsACTN3
Target ValidationACTN3
Huge Navigator ACTN3 [HugePedia]
ClinGenACTN3
Clinical trials, drugs, therapy
MyCancerGenomeACTN3
Protein Interactions : CTDACTN3
Pharm GKB GenePA24485
PharosQ08043
Clinical trialACTN3
Miscellaneous
canSAR (ICR)ACTN3
HarmonizomeACTN3
DataMed IndexACTN3
Probes
Litterature
PubMed224 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXACTN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Sep 15 22:02:21 CEST 2021

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