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ATXN2 (ataxin 2)

Identity

Alias_namesSCA2
TNRC13
spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2
Alias_symbol (synonym)ATX2
HGNC (Hugo) ATXN2
LocusID (NCBI) 6311
Atlas_Id 53189
Location 12q24.12  [Link to chromosome band 12q24]
Location_base_pair Starts at 111890018 and ends at 112037477 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ANKUB1 (3q25.1) / ATXN2 (12q24.12)ATXN2 (12q24.12) / ATXN2 (12q24.12)ATXN2 (12q24.12) / CCDC59 (12q21.31)
ATXN2 (12q24.12) / GIT2 (12q24.11)ATXN2 (12q24.12) / RBBP8 (18q11.2)ATXN2 (12q24.12) / RPL6 (12q24.13)
ATXN2 (12q24.12) / USP9X (Xp11.4)C16orf87 (16q11.2) / ATXN2 (12q24.12)SH2B3 (12q24.12) / ATXN2 (12q24.12)
ATXN2 12q24.12 / CCDC59 12q21.31ATXN2 12q24.12 / GIT2 12q24.11ATXN2 12q24.12 / RPL6 12q24.13
C16orf87 16q11.2 / ATXN2 12q24.12

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)ATXN2   10555
LRG (Locus Reference Genomic)LRG_864
Cards
Entrez_Gene (NCBI)ATXN2  6311  ataxin 2
AliasesASL13; ATX2; SCA2; TNRC13
GeneCards (Weizmann)ATXN2
Ensembl hg19 (Hinxton)ENSG00000204842 [Gene_View]  chr12:111890018-112037477 [Contig_View]  ATXN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000204842 [Gene_View]  chr12:111890018-112037477 [Contig_View]  ATXN2 [Vega]
ICGC DataPortalENSG00000204842
TCGA cBioPortalATXN2
AceView (NCBI)ATXN2
Genatlas (Paris)ATXN2
WikiGenes6311
SOURCE (Princeton)ATXN2
Genetics Home Reference (NIH)ATXN2
Genomic and cartography
GoldenPath hg19 (UCSC)ATXN2  -     chr12:111890018-112037477 -  12q24.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATXN2  -     12q24.12   [Description]    (hg38-Dec_2013)
EnsemblATXN2 - 12q24.12 [CytoView hg19]  ATXN2 - 12q24.12 [CytoView hg38]
Mapping of homologs : NCBIATXN2 [Mapview hg19]  ATXN2 [Mapview hg38]
OMIM168600   183090   601517   
Gene and transcription
Genbank (Entrez)AA731027 AI083696 AI668891 AK128613 AK307803
RefSeq transcript (Entrez)NM_001310121 NM_001310123 NM_002973
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_011572 NT_029419 NW_004929385
Consensus coding sequences : CCDS (NCBI)ATXN2
Cluster EST : UnigeneHs.732512 [ NCBI ]
CGAP (NCI)Hs.732512
Alternative Splicing GalleryENSG00000204842
Gene ExpressionATXN2 [ NCBI-GEO ]   ATXN2 [ EBI - ARRAY_EXPRESS ]   ATXN2 [ SEEK ]   ATXN2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6311
GTEX Portal (Tissue expression)ATXN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99700   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99700  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99700
Splice isoforms : SwissVarQ99700
PhosPhoSitePlusQ99700
Domains : Interpro (EBI)Ataxin-2_C    LSM_dom    LsmAD_domain    SM_dom_ATX   
Domain families : Pfam (Sanger)LsmAD (PF06741)    PAM2 (PF07145)    SM-ATX (PF14438)   
Domain families : Pfam (NCBI)pfam06741    pfam07145    pfam14438   
Conserved Domain (NCBI)ATXN2
DMDM Disease mutations6311
Blocks (Seattle)ATXN2
PDB (SRS)3KTR   
PDB (PDBSum)3KTR   
PDB (IMB)3KTR   
PDB (RSDB)3KTR   
Structural Biology KnowledgeBase3KTR   
SCOP (Structural Classification of Proteins)3KTR   
CATH (Classification of proteins structures)3KTR   
SuperfamilyQ99700
Human Protein AtlasENSG00000204842
Peptide AtlasQ99700
HPRD03307
IPIIPI00180154   IPI00455359   IPI00443693   IPI00455363   IPI01020917   IPI00792334   IPI01021788   IPI01021652   IPI01021894   IPI01022224   IPI01022629   IPI01022474   IPI01022952   IPI00719520   IPI00788625   
Protein Interaction databases
DIP (DOE-UCLA)Q99700
IntAct (EBI)Q99700
FunCoupENSG00000204842
BioGRIDATXN2
STRING (EMBL)ATXN2
ZODIACATXN2
Ontologies - Pathways
QuickGOQ99700
Ontology : AmiGOnegative regulation of receptor internalization  RNA binding  epidermal growth factor receptor binding  protein binding  nucleoplasm  cytoplasm  Golgi apparatus  trans-Golgi network  polysome  regulation of translation  protein C-terminus binding  cytoplasmic stress granule  regulation of cytoplasmic mRNA processing body assembly  membrane  RNA metabolic process  intracellular ribonucleoprotein complex  cytoplasmic mRNA processing body assembly  stress granule assembly  poly(A) RNA binding  poly(A) RNA binding  perinuclear region of cytoplasm  RNA transport  
Ontology : EGO-EBInegative regulation of receptor internalization  RNA binding  epidermal growth factor receptor binding  protein binding  nucleoplasm  cytoplasm  Golgi apparatus  trans-Golgi network  polysome  regulation of translation  protein C-terminus binding  cytoplasmic stress granule  regulation of cytoplasmic mRNA processing body assembly  membrane  RNA metabolic process  intracellular ribonucleoprotein complex  cytoplasmic mRNA processing body assembly  stress granule assembly  poly(A) RNA binding  poly(A) RNA binding  perinuclear region of cytoplasm  RNA transport  
NDEx NetworkATXN2
Atlas of Cancer Signalling NetworkATXN2
Wikipedia pathwaysATXN2
Orthology - Evolution
OrthoDB6311
GeneTree (enSembl)ENSG00000204842
Phylogenetic Trees/Animal Genes : TreeFamATXN2
HOVERGENQ99700
HOGENOMQ99700
Homologs : HomoloGeneATXN2
Homology/Alignments : Family Browser (UCSC)ATXN2
Gene fusions - Rearrangements
Fusion : MitelmanATXN2/CCDC59 [12q24.12/12q21.31]  
Fusion : MitelmanATXN2/GIT2 [12q24.12/12q24.11]  [t(12;12)(q24;q24)]  
Fusion : MitelmanATXN2/RPL6 [12q24.12/12q24.13]  [t(12;12)(q24;q24)]  
Fusion : MitelmanC16orf87/ATXN2 [16q11.2/12q24.12]  [t(12;16)(q24;q11)]  
Fusion: TCGAATXN2 12q24.12 CCDC59 12q21.31 BRCA
Fusion: TCGAATXN2 12q24.12 GIT2 12q24.11 BRCA
Fusion: TCGAATXN2 12q24.12 RPL6 12q24.13 GBM
Fusion: TCGAC16orf87 16q11.2 ATXN2 12q24.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN2
dbVarATXN2
ClinVarATXN2
1000_GenomesATXN2 
Exome Variant ServerATXN2
ExAC (Exome Aggregation Consortium)ATXN2 (select the gene name)
Genetic variants : HAPMAP6311
Genomic Variants (DGV)ATXN2 [DGVbeta]
DECIPHER (Syndromes)12:111890018-112037477  ENSG00000204842
CONAN: Copy Number AnalysisATXN2 
Mutations
ICGC Data PortalATXN2 
TCGA Data PortalATXN2 
Broad Tumor PortalATXN2
OASIS PortalATXN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN2
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 ATXN2
DgiDB (Drug Gene Interaction Database)ATXN2
DoCM (Curated mutations)ATXN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN2 (select a term)
intoGenATXN2
Cancer3DATXN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM168600    183090    601517   
Orphanet106    13773   
MedgenATXN2
Genetic Testing Registry ATXN2
NextProtQ99700 [Medical]
TSGene6311
GENETestsATXN2
Huge Navigator ATXN2 [HugePedia]
snp3D : Map Gene to Disease6311
BioCentury BCIQATXN2
ClinGenATXN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6311
Chemical/Pharm GKB GenePA34968
Clinical trialATXN2
Miscellaneous
canSAR (ICR)ATXN2 (select the gene name)
Probes
Litterature
PubMed156 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN2
EVEXATXN2
GoPubMedATXN2
iHOPATXN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:31:50 CET 2016

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