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ATXN2 (ataxin 2)

Identity

Alias (NCBI)ATX2
SCA2
TNRC13
HGNC (Hugo) ATXN2
HGNC Alias symbATX2
HGNC Alias nametrinucleotide repeat containing 13
HGNC Previous nameSCA2
 TNRC13
HGNC Previous namespinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)
LocusID (NCBI) 6311
Atlas_Id 53189
Location 12q24.12  [Link to chromosome band 12q24]
Location_base_pair Starts at 111452214 and ends at 111599315 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)
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    ataxin 2
AliasesATX2; SCA2; TNRC13
GeneCards (Weizmann)ATXN2
Ensembl hg19 (Hinxton)ENSG00000204842 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204842 [Gene_View]  ENSG00000204842 [Sequence]  chr12:111452214-111599315 [Contig_View]  ATXN2 [Vega]
ICGC DataPortalENSG00000204842
TCGA cBioPortalATXN2
AceView (NCBI)ATXN2
Genatlas (Paris)ATXN2
SOURCE (Princeton)ATXN2
Genetics Home Reference (NIH)ATXN2
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN2  -     chr12:111452214-111599315 -  12q24.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN2  -     12q24.12   [Description]    (hg19-Feb_2009)
GoldenPathATXN2 - 12q24.12 [CytoView hg19]  ATXN2 - 12q24.12 [CytoView hg38]
ImmunoBaseENSG00000204842
Genome Data Viewer NCBIATXN2 [Mapview hg19]  
OMIM168600   183090   601517   
Gene and transcription
Genbank (Entrez)AA731027 AI083696 AI668891 AK128613 AK307803
RefSeq transcript (Entrez)NM_001310121 NM_001310123 NM_001372574 NM_002973
Consensus coding sequences : CCDS (NCBI)ATXN2
Gene ExpressionATXN2 [ NCBI-GEO ]   ATXN2 [ EBI - ARRAY_EXPRESS ]   ATXN2 [ SEEK ]   ATXN2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN2 [ Firebrowse - Broad ]
GenevisibleExpression of ATXN2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6311
GTEX Portal (Tissue expression)ATXN2
Human Protein AtlasENSG00000204842-ATXN2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ99700
Domains : Interpro (EBI)Ataxin-2_C    ATXN2    LSM_dom_sf    LsmAD_domain    SM_dom_ATX   
Domain families : Pfam (Sanger)LsmAD (PF06741)    PAM2 (PF07145)    SM-ATX (PF14438)   
Domain families : Pfam (NCBI)pfam06741    pfam07145    pfam14438   
Domain families : Smart (EMBL)LsmAD (SM01272)  
Conserved Domain (NCBI)ATXN2
PDB (RSDB)3KTR   
PDB Europe3KTR   
PDB (PDBSum)3KTR   
PDB (IMB)3KTR   
Structural Biology KnowledgeBase3KTR   
SCOP (Structural Classification of Proteins)3KTR   
CATH (Classification of proteins structures)3KTR   
SuperfamilyQ99700
AlphaFold pdb e-kbQ99700   
Human Protein Atlas [tissue]ENSG00000204842-ATXN2 [tissue]
HPRD03307
Protein Interaction databases
DIP (DOE-UCLA)Q99700
IntAct (EBI)Q99700
BioGRIDATXN2
STRING (EMBL)ATXN2
ZODIACATXN2
Ontologies - Pathways
QuickGOQ99700
Ontology : AmiGOnegative regulation of receptor internalization  RNA binding  RNA binding  RNA binding  epidermal growth factor receptor binding  protein binding  cytoplasm  Golgi apparatus  trans-Golgi network  cytosol  polysome  regulation of translation  protein C-terminus binding  cytoplasmic stress granule  cytoplasmic stress granule  regulation of cytoplasmic mRNA processing body assembly  membrane  RNA metabolic process  P-body assembly  stress granule assembly  stress granule assembly  perinuclear region of cytoplasm  RNA transport  ribonucleoprotein complex  
Ontology : EGO-EBInegative regulation of receptor internalization  RNA binding  RNA binding  RNA binding  epidermal growth factor receptor binding  protein binding  cytoplasm  Golgi apparatus  trans-Golgi network  cytosol  polysome  regulation of translation  protein C-terminus binding  cytoplasmic stress granule  cytoplasmic stress granule  regulation of cytoplasmic mRNA processing body assembly  membrane  RNA metabolic process  P-body assembly  stress granule assembly  stress granule assembly  perinuclear region of cytoplasm  RNA transport  ribonucleoprotein complex  
NDEx NetworkATXN2
Atlas of Cancer Signalling NetworkATXN2
Wikipedia pathwaysATXN2
Orthology - Evolution
OrthoDB6311
GeneTree (enSembl)ENSG00000204842
Phylogenetic Trees/Animal Genes : TreeFamATXN2
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]  
Fusion : MitelmanATXN2/RPL6 [12q24.12/12q24.13]  
Fusion : MitelmanC16orf87/ATXN2 [16q11.2/12q24.12]  
Fusion : QuiverATXN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN2
dbVarATXN2
ClinVarATXN2
MonarchATXN2
1000_GenomesATXN2 
Exome Variant ServerATXN2
GNOMAD BrowserENSG00000204842
Varsome BrowserATXN2
ACMGATXN2 variants
VarityQ99700
Genomic Variants (DGV)ATXN2 [DGVbeta]
DECIPHERATXN2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DATXN2
Mutations and Diseases : HGMDATXN2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaATXN2
DgiDB (Drug Gene Interaction Database)ATXN2
DoCM (Curated mutations)ATXN2
CIViC (Clinical Interpretations of Variants in Cancer)ATXN2
Cancer3DATXN2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM168600    183090    601517   
Orphanet106    13773   
DisGeNETATXN2
MedgenATXN2
Genetic Testing Registry ATXN2
NextProtQ99700 [Medical]
GENETestsATXN2
Target ValidationATXN2
Huge Navigator ATXN2 [HugePedia]
ClinGenATXN2
Clinical trials, drugs, therapy
MyCancerGenomeATXN2
Protein Interactions : CTDATXN2
Pharm GKB GenePA34968
PharosQ99700
Clinical trialATXN2
Miscellaneous
canSAR (ICR)ATXN2
HarmonizomeATXN2
DataMed IndexATXN2
Probes
Litterature
PubMed227 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATXN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:00:42 CEST 2021

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