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ATXN2 (ataxin 2)

Identity

Other namesASL13
ATX2
SCA2
TNRC13
HGNC (Hugo) ATXN2
LocusID (NCBI) 6311
Location 12q24.12
Location_base_pair Starts at 111890018 and ends at 112037480 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)ATXN2   10555
Cards
Entrez_Gene (NCBI)ATXN2  6311  ataxin 2
GeneCards (Weizmann)ATXN2
Ensembl hg19 (Hinxton)ENSG00000204842 [Gene_View]  chr12:111890018-112037480 [Contig_View]  ATXN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000204842 [Gene_View]  chr12:111890018-112037480 [Contig_View]  ATXN2 [Vega]
ICGC DataPortalENSG00000204842
cBioPortalATXN2
AceView (NCBI)ATXN2
Genatlas (Paris)ATXN2
WikiGenes6311
SOURCE (Princeton)ATXN2
Genomic and cartography
GoldenPath hg19 (UCSC)ATXN2  -     chr12:111890018-112037480 -  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]
OMIM183090   601517   
Gene and transcription
Genbank (Entrez)AA731027 AI083696 AK128613 AK307803 AL042619
RefSeq transcript (Entrez)NM_002973
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_011572 NT_029419 NW_001838063 NW_004929385
Consensus coding sequences : CCDS (NCBI)ATXN2
Cluster EST : UnigeneHs.76253 [ NCBI ]
CGAP (NCI)Hs.76253
Alternative Splicing : Fast-db (Paris)GSHG0007784
Alternative Splicing GalleryENSG00000204842
Gene ExpressionATXN2 [ NCBI-GEO ]     ATXN2 [ SEEK ]   ATXN2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99700 (Uniprot)
NextProtQ99700  [Medical]
With graphics : InterProQ99700
Splice isoforms : SwissVarQ99700 (Swissvar)
Domains : Interpro (EBI)Ataxin-2_C    LSM_dom    LsmAD_domain    SM_dom_ATX   
Related proteins : CluSTrQ99700
Domain families : Pfam (Sanger)LsmAD (PF06741)    PAM2 (PF07145)    SM-ATX (PF14438)   
Domain families : Pfam (NCBI)pfam06741    pfam07145    pfam14438   
DMDM Disease mutations6311
Blocks (Seattle)Q99700
PDB (SRS)3KTR   
PDB (PDBSum)3KTR   
PDB (IMB)3KTR   
PDB (RSDB)3KTR   
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
IntegromeDBATXN2
STRING (EMBL)ATXN2
Ontologies - Pathways
QuickGOQ99700
Ontology : AmiGOnegative regulation of receptor internalization  RNA binding  epidermal growth factor receptor binding  protein binding  nucleus  nucleolus  cytoplasm  Golgi apparatus  trans-Golgi network  polysome  regulation of translation  protein C-terminus binding  cell death  cytoplasmic stress granule  membrane  RNA metabolic process  cerebellar Purkinje cell differentiation  ribonucleoprotein complex  cytoplasmic mRNA processing body assembly  stress granule assembly  negative regulation of multicellular organism growth  poly(A) RNA binding  perinuclear region of cytoplasm  neuron projection morphogenesis  homeostasis of number of cells  RNA transport  neuromuscular process  
Ontology : EGO-EBInegative regulation of receptor internalization  RNA binding  epidermal growth factor receptor binding  protein binding  nucleus  nucleolus  cytoplasm  Golgi apparatus  trans-Golgi network  polysome  regulation of translation  protein C-terminus binding  cell death  cytoplasmic stress granule  membrane  RNA metabolic process  cerebellar Purkinje cell differentiation  ribonucleoprotein complex  cytoplasmic mRNA processing body assembly  stress granule assembly  negative regulation of multicellular organism growth  poly(A) RNA binding  perinuclear region of cytoplasm  neuron projection morphogenesis  homeostasis of number of cells  RNA transport  neuromuscular process  
Protein Interaction DatabaseATXN2
DoCM (Curated mutations)ATXN2
Wikipedia pathwaysATXN2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerATXN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN2
dbVarATXN2
ClinVarATXN2
1000_GenomesATXN2 
Exome Variant ServerATXN2
SNP (GeneSNP Utah)ATXN2
SNP : HGBaseATXN2
Genetic variants : HAPMAPATXN2
Genomic VariantsATXN2  ATXN2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000204842 
Somatic Mutations in Cancer : COSMICATXN2 
CONAN: Copy Number AnalysisATXN2 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:111890018-112037480
Mutations and Diseases : HGMDATXN2
OMIM183090    601517   
MedgenATXN2
NextProtQ99700 [Medical]
GENETestsATXN2
Disease Genetic AssociationATXN2
Huge Navigator ATXN2 [HugePedia]  ATXN2 [HugeCancerGEM]
snp3D : Map Gene to Disease6311
DGIdb (Drug Gene Interaction db)ATXN2
General knowledge
Homologs : HomoloGeneATXN2
Homology/Alignments : Family Browser (UCSC)ATXN2
Phylogenetic Trees/Animal Genes : TreeFamATXN2
Chemical/Protein Interactions : CTD6311
Chemical/Pharm GKB GenePA34968
Clinical trialATXN2
Cancer Resource (Charite)ENSG00000204842
Other databases
Probes
Litterature
PubMed136 Pubmed reference(s) in Entrez
CoreMineATXN2
GoPubMedATXN2
iHOPATXN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:18:46 CET 2014

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