Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ATXN3 (ataxin 3)

Identity

Alias_namesSCA3
MJD
Machado-Joseph disease (spinocerebellar ataxia 3
Alias_symbol (synonym)ATX3
JOS
Other aliasAT3
MJD1
HGNC (Hugo) ATXN3
LocusID (NCBI) 4287
Atlas_Id 41368
Location 14q32.12  [Link to chromosome band 14q32]
Location_base_pair Starts at 92058552 and ends at 92106621 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)
ABTB2 (11p13) / ATXN3 (14q32.12)ANKRD28 (3p25.1) / ATXN3 (14q32.12)ATXN3 (14q32.12) / THSD7A (7p21.3)
CATSPERB (14q32.12) / ATXN3 (14q32.12)ABTB2 11p13 / ATXN3 14q32.12CATSPERB 14q32.12 / ATXN3 14q32.12

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)ATXN3   7106
LRG (Locus Reference Genomic)LRG_865
Cards
Entrez_Gene (NCBI)ATXN3  4287  ataxin 3
AliasesAT3; ATX3; JOS; MJD; 
MJD1; SCA3
GeneCards (Weizmann)ATXN3
Ensembl hg19 (Hinxton)ENSG00000066427 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000066427 [Gene_View]  chr14:92058552-92106621 [Contig_View]  ATXN3 [Vega]
ICGC DataPortalENSG00000066427
TCGA cBioPortalATXN3
AceView (NCBI)ATXN3
Genatlas (Paris)ATXN3
WikiGenes4287
SOURCE (Princeton)ATXN3
Genetics Home Reference (NIH)ATXN3
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN3  -     chr14:92058552-92106621 -  14q32.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN3  -     14q32.12   [Description]    (hg19-Feb_2009)
EnsemblATXN3 - 14q32.12 [CytoView hg19]  ATXN3 - 14q32.12 [CytoView hg38]
Mapping of homologs : NCBIATXN3 [Mapview hg19]  ATXN3 [Mapview hg38]
OMIM109150   607047   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001024631 NM_001127696 NM_001127697 NM_001164774 NM_001164776 NM_001164777 NM_001164778 NM_001164779 NM_001164780 NM_001164781 NM_001164782 NM_004993 NM_030660
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN3
Cluster EST : UnigeneHs.532632 [ NCBI ]
CGAP (NCI)Hs.532632
Alternative Splicing GalleryENSG00000066427
Gene ExpressionATXN3 [ NCBI-GEO ]   ATXN3 [ EBI - ARRAY_EXPRESS ]   ATXN3 [ SEEK ]   ATXN3 [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4287
GTEX Portal (Tissue expression)ATXN3
Human Protein AtlasENSG00000066427-ATXN3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54252   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54252  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54252
Splice isoforms : SwissVarP54252
Catalytic activity : Enzyme3.4.19.12 [ Enzyme-Expasy ]   3.4.19.123.4.19.12 [ IntEnz-EBI ]   3.4.19.12 [ BRENDA ]   3.4.19.12 [ KEGG ]   
PhosPhoSitePlusP54252
Domaine pattern : Prosite (Expaxy)JOSEPHIN (PS50957)    UIM (PS50330)   
Domains : Interpro (EBI)Ataxin-3    Josephin    UIM_dom   
Domain families : Pfam (Sanger)Josephin (PF02099)    UIM (PF02809)   
Domain families : Pfam (NCBI)pfam02099    pfam02809   
Domain families : Smart (EMBL)Josephin (SM01246)  UIM (SM00726)  
Conserved Domain (NCBI)ATXN3
DMDM Disease mutations4287
Blocks (Seattle)ATXN3
PDB (SRS)1YZB    2AGA    2DOS    2JRI    2KLZ    4WTH    4YS9   
PDB (PDBSum)1YZB    2AGA    2DOS    2JRI    2KLZ    4WTH    4YS9   
PDB (IMB)1YZB    2AGA    2DOS    2JRI    2KLZ    4WTH    4YS9   
PDB (RSDB)1YZB    2AGA    2DOS    2JRI    2KLZ    4WTH    4YS9   
Structural Biology KnowledgeBase1YZB    2AGA    2DOS    2JRI    2KLZ    4WTH    4YS9   
SCOP (Structural Classification of Proteins)1YZB    2AGA    2DOS    2JRI    2KLZ    4WTH    4YS9   
CATH (Classification of proteins structures)1YZB    2AGA    2DOS    2JRI    2KLZ    4WTH    4YS9   
SuperfamilyP54252
Human Protein Atlas [tissue]ENSG00000066427-ATXN3 [tissue]
Peptide AtlasP54252
HPRD06131
IPI###############################################################################################################################################################################################################################################################   
Protein Interaction databases
DIP (DOE-UCLA)P54252
IntAct (EBI)P54252
FunCoupENSG00000066427
BioGRIDATXN3
STRING (EMBL)ATXN3
ZODIACATXN3
Ontologies - Pathways
QuickGOP54252
Ontology : AmiGOmicrotubule cytoskeleton organization  thiol-dependent ubiquitin-specific protease activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  mitochondrial matrix  endoplasmic reticulum membrane  cytosol  cytosol  plasma membrane  nucleotide-excision repair  transcription, DNA-templated  regulation of transcription, DNA-templated  ubiquitin-dependent protein catabolic process  misfolded or incompletely synthesized protein catabolic process  chemical synaptic transmission  nervous system development  regulation of cell-substrate adhesion  nuclear matrix  protein deubiquitination  protein deubiquitination  actin cytoskeleton organization  ubiquitin protein ligase binding  ubiquitin protein ligase binding  mitochondrial membrane  cellular response to heat  monoubiquitinated protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  nuclear inclusion body  identical protein binding  proteasome-mediated ubiquitin-dependent protein catabolic process  intermediate filament cytoskeleton organization  ATPase binding  Lys63-specific deubiquitinase activity  protein K63-linked deubiquitination  protein K48-linked deubiquitination  cellular response to misfolded protein  positive regulation of ERAD pathway  protein localization to cytosolic proteasome complex involved in ERAD pathway  Lys48-specific deubiquitinase activity  
Ontology : EGO-EBImicrotubule cytoskeleton organization  thiol-dependent ubiquitin-specific protease activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  mitochondrial matrix  endoplasmic reticulum membrane  cytosol  cytosol  plasma membrane  nucleotide-excision repair  transcription, DNA-templated  regulation of transcription, DNA-templated  ubiquitin-dependent protein catabolic process  misfolded or incompletely synthesized protein catabolic process  chemical synaptic transmission  nervous system development  regulation of cell-substrate adhesion  nuclear matrix  protein deubiquitination  protein deubiquitination  actin cytoskeleton organization  ubiquitin protein ligase binding  ubiquitin protein ligase binding  mitochondrial membrane  cellular response to heat  monoubiquitinated protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  nuclear inclusion body  identical protein binding  proteasome-mediated ubiquitin-dependent protein catabolic process  intermediate filament cytoskeleton organization  ATPase binding  Lys63-specific deubiquitinase activity  protein K63-linked deubiquitination  protein K48-linked deubiquitination  cellular response to misfolded protein  positive regulation of ERAD pathway  protein localization to cytosolic proteasome complex involved in ERAD pathway  Lys48-specific deubiquitinase activity  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkATXN3
Atlas of Cancer Signalling NetworkATXN3
Wikipedia pathwaysATXN3
Orthology - Evolution
OrthoDB4287
GeneTree (enSembl)ENSG00000066427
Phylogenetic Trees/Animal Genes : TreeFamATXN3
HOVERGENP54252
HOGENOMP54252
Homologs : HomoloGeneATXN3
Homology/Alignments : Family Browser (UCSC)ATXN3
Gene fusions - Rearrangements
Fusion : MitelmanABTB2/ATXN3 [11p13/14q32.12]  [t(11;14)(p13;q32)]  
Fusion : MitelmanCATSPERB/ATXN3 [14q32.12/14q32.12]  [t(14;14)(q32;q32)]  
Fusion: TCGA_MDACCABTB2 11p13 ATXN3 14q32.12 BRCA
Fusion: TCGA_MDACCCATSPERB 14q32.12 ATXN3 14q32.12 BRCA
Tumor Fusion PortalATXN3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN3
dbVarATXN3
ClinVarATXN3
1000_GenomesATXN3 
Exome Variant ServerATXN3
ExAC (Exome Aggregation Consortium)ENSG00000066427
GNOMAD BrowserENSG00000066427
Genetic variants : HAPMAP4287
Genomic Variants (DGV)ATXN3 [DGVbeta]
DECIPHERATXN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATXN3 
Mutations
ICGC Data PortalATXN3 
TCGA Data PortalATXN3 
Broad Tumor PortalATXN3
OASIS PortalATXN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATXN3
DgiDB (Drug Gene Interaction Database)ATXN3
DoCM (Curated mutations)ATXN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN3 (select a term)
intoGenATXN3
Cancer3DATXN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM109150    607047   
Orphanet20359    20361    20360   
DisGeNETATXN3
MedgenATXN3
Genetic Testing Registry ATXN3
NextProtP54252 [Medical]
TSGene4287
GENETestsATXN3
Target ValidationATXN3
Huge Navigator ATXN3 [HugePedia]
snp3D : Map Gene to Disease4287
BioCentury BCIQATXN3
ClinGenATXN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4287
Chemical/Pharm GKB GenePA134971833
Clinical trialATXN3
Miscellaneous
canSAR (ICR)ATXN3 (select the gene name)
Probes
Litterature
PubMed227 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN3
EVEXATXN3
GoPubMedATXN3
iHOPATXN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:04:21 CET 2017

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