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ACTN3 (actinin alpha 3 (gene/pseudogene))

Identity

Alias_namesactinin
Other alias-
HGNC (Hugo) ACTN3
LocusID (NCBI) 89
Atlas_Id 54104
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 66546841 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  89  actinin alpha 3 (gene/pseudogene)
Aliases
GeneCards (Weizmann)ACTN3
Ensembl hg19 (Hinxton)ENSG00000248746 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000248746 [Gene_View]  chr11:66546841-66563329 [Contig_View]  ACTN3 [Vega]
ICGC DataPortalENSG00000248746
TCGA cBioPortalACTN3
AceView (NCBI)ACTN3
Genatlas (Paris)ACTN3
WikiGenes89
SOURCE (Princeton)ACTN3
Genetics Home Reference (NIH)ACTN3
Genomic and cartography
GoldenPath hg38 (UCSC)ACTN3  -     chr11:66546841-66563329 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACTN3  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblACTN3 - 11q13.2 [CytoView hg19]  ACTN3 - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBIACTN3 [Mapview hg19]  ACTN3 [Mapview hg38]
OMIM102574   
Gene and transcription
Genbank (Entrez)AJ346025 AK125851 AK303044 AK313556 AL043389
RefSeq transcript (Entrez)NM_001104 NM_001258371
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACTN3
Cluster EST : UnigeneHs.737862 [ NCBI ]
CGAP (NCI)Hs.737862
Alternative Splicing GalleryENSG00000248746
Gene ExpressionACTN3 [ NCBI-GEO ]   ACTN3 [ EBI - ARRAY_EXPRESS ]   ACTN3 [ SEEK ]   ACTN3 [ MEM ]
Gene Expression Viewer (FireBrowse)ACTN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarQ08043
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    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
DMDM Disease mutations89
Blocks (Seattle)ACTN3
PDB (SRS)1TJT    1WKU    3LUE   
PDB (PDBSum)1TJT    1WKU    3LUE   
PDB (IMB)1TJT    1WKU    3LUE   
PDB (RSDB)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
Human Protein Atlas [tissue]ENSG00000248746-ACTN3 [tissue]
Peptide AtlasQ08043
HPRD02148
IPIIPI00032137   IPI00936352   IPI00963994   
Protein Interaction databases
DIP (DOE-UCLA)Q08043
IntAct (EBI)Q08043
FunCoupENSG00000248746
BioGRIDACTN3
STRING (EMBL)ACTN3
ZODIACACTN3
Ontologies - Pathways
QuickGOQ08043
Ontology : AmiGOactin binding  integrin binding  calcium ion binding  protein binding  intracellular  cytosol  actin filament  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  muscle filament sliding  pseudopodium  protein homodimerization activity  regulation of apoptotic process  ion channel binding  negative regulation of glycolytic process  focal adhesion assembly  positive regulation of skeletal muscle tissue growth  extracellular exosome  negative regulation of calcineurin-NFAT signaling cascade  negative regulation of oxidative phosphorylation  regulation of aerobic respiration  positive regulation of glucose catabolic process to lactate via pyruvate  
Ontology : EGO-EBIactin binding  integrin binding  calcium ion binding  protein binding  intracellular  cytosol  actin filament  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  muscle filament sliding  pseudopodium  protein homodimerization activity  regulation of apoptotic process  ion channel binding  negative regulation of glycolytic process  focal adhesion assembly  positive regulation of skeletal muscle tissue growth  extracellular exosome  negative regulation of calcineurin-NFAT signaling cascade  negative regulation of oxidative phosphorylation  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 : KEGG   
NDEx NetworkACTN3
Atlas of Cancer Signalling NetworkACTN3
Wikipedia pathwaysACTN3
Orthology - Evolution
OrthoDB89
GeneTree (enSembl)ENSG00000248746
Phylogenetic Trees/Animal Genes : TreeFamACTN3
HOVERGENQ08043
HOGENOMQ08043
Homologs : HomoloGeneACTN3
Homology/Alignments : Family Browser (UCSC)ACTN3
Gene fusions - Rearrangements
Fusion : MitelmanHOOK2/ACTN3 [19p13.2/11q13.2]  [t(11;19)(q13;p13)]  
Tumor Fusion PortalACTN3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTN3
dbVarACTN3
ClinVarACTN3
1000_GenomesACTN3 
Exome Variant ServerACTN3
ExAC (Exome Aggregation Consortium)ENSG00000248746
GNOMAD BrowserENSG00000248746
Genetic variants : HAPMAP89
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]  
Mutations and Diseases : HGMDACTN3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
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)
intoGenACTN3
Cancer3DACTN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102574   
Orphanet
DisGeNETACTN3
MedgenACTN3
Genetic Testing Registry ACTN3
NextProtQ08043 [Medical]
TSGene89
GENETestsACTN3
Target ValidationACTN3
Huge Navigator ACTN3 [HugePedia]
snp3D : Map Gene to Disease89
BioCentury BCIQACTN3
ClinGenACTN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD89
Chemical/Pharm GKB GenePA24485
Clinical trialACTN3
Miscellaneous
canSAR (ICR)ACTN3 (select the gene name)
Probes
Litterature
PubMed161 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTN3
EVEXACTN3
GoPubMedACTN3
iHOPACTN3
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 : Tue Nov 21 14:01:57 CET 2017

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