Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ATXN2L (ataxin 2 like)

Identity

Alias_namesataxin 2-like
Alias_symbol (synonym)A2lp
A2D
Other aliasA2LG
A2LP
A2RP
HGNC (Hugo) ATXN2L
LocusID (NCBI) 11273
Atlas_Id 60658
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 28823048 and ends at 28837237 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATXN2L (16p11.2) / SNX31 (8q22.2)

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)ATXN2L   31326
Cards
Entrez_Gene (NCBI)ATXN2L  11273  ataxin 2 like
AliasesA2D; A2LG; A2LP; A2RP
GeneCards (Weizmann)ATXN2L
Ensembl hg19 (Hinxton)ENSG00000168488 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168488 [Gene_View]  chr16:28823048-28837237 [Contig_View]  ATXN2L [Vega]
ICGC DataPortalENSG00000168488
TCGA cBioPortalATXN2L
AceView (NCBI)ATXN2L
Genatlas (Paris)ATXN2L
WikiGenes11273
SOURCE (Princeton)ATXN2L
Genetics Home Reference (NIH)ATXN2L
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN2L  -     chr16:28823048-28837237 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN2L  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblATXN2L - 16p11.2 [CytoView hg19]  ATXN2L - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIATXN2L [Mapview hg19]  ATXN2L [Mapview hg38]
OMIM607931   
Gene and transcription
Genbank (Entrez)AF034373 AF070605 AJ317970 AJ317971 AJ317972
RefSeq transcript (Entrez)NM_001308230 NM_007245 NM_017492 NM_145714 NM_148414 NM_148415 NM_148416
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN2L
Cluster EST : UnigeneHs.460499 [ NCBI ]
CGAP (NCI)Hs.460499
Alternative Splicing GalleryENSG00000168488
Gene ExpressionATXN2L [ NCBI-GEO ]   ATXN2L [ EBI - ARRAY_EXPRESS ]   ATXN2L [ SEEK ]   ATXN2L [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN2L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11273
GTEX Portal (Tissue expression)ATXN2L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WWM7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WWM7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WWM7
Splice isoforms : SwissVarQ8WWM7
PhosPhoSitePlusQ8WWM7
Domains : Interpro (EBI)Ataxin-2_C    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)ATXN2L
DMDM Disease mutations11273
Blocks (Seattle)ATXN2L
SuperfamilyQ8WWM7
Human Protein AtlasENSG00000168488
Peptide AtlasQ8WWM7
HPRD06394
IPIIPI00456359   IPI00456361   IPI00456363   IPI00456365   IPI00456369   IPI01018244   IPI00479363   IPI00456367   IPI00883782   
Protein Interaction databases
DIP (DOE-UCLA)Q8WWM7
IntAct (EBI)Q8WWM7
FunCoupENSG00000168488
BioGRIDATXN2L
STRING (EMBL)ATXN2L
ZODIACATXN2L
Ontologies - Pathways
QuickGOQ8WWM7
Ontology : AmiGORNA binding  protein binding  cytosol  cytoplasmic stress granule  regulation of cytoplasmic mRNA processing body assembly  membrane  nuclear speck  stress granule assembly  cadherin binding  
Ontology : EGO-EBIRNA binding  protein binding  cytosol  cytoplasmic stress granule  regulation of cytoplasmic mRNA processing body assembly  membrane  nuclear speck  stress granule assembly  cadherin binding  
NDEx NetworkATXN2L
Atlas of Cancer Signalling NetworkATXN2L
Wikipedia pathwaysATXN2L
Orthology - Evolution
OrthoDB11273
GeneTree (enSembl)ENSG00000168488
Phylogenetic Trees/Animal Genes : TreeFamATXN2L
HOVERGENQ8WWM7
HOGENOMQ8WWM7
Homologs : HomoloGeneATXN2L
Homology/Alignments : Family Browser (UCSC)ATXN2L
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN2L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN2L
dbVarATXN2L
ClinVarATXN2L
1000_GenomesATXN2L 
Exome Variant ServerATXN2L
ExAC (Exome Aggregation Consortium)ATXN2L (select the gene name)
Genetic variants : HAPMAP11273
Genomic Variants (DGV)ATXN2L [DGVbeta]
DECIPHERATXN2L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATXN2L 
Mutations
ICGC Data PortalATXN2L 
TCGA Data PortalATXN2L 
Broad Tumor PortalATXN2L
OASIS PortalATXN2L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN2L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN2L
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 ATXN2L
DgiDB (Drug Gene Interaction Database)ATXN2L
DoCM (Curated mutations)ATXN2L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN2L (select a term)
intoGenATXN2L
Cancer3DATXN2L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607931   
Orphanet
MedgenATXN2L
Genetic Testing Registry ATXN2L
NextProtQ8WWM7 [Medical]
TSGene11273
GENETestsATXN2L
Target ValidationATXN2L
Huge Navigator ATXN2L [HugePedia]
snp3D : Map Gene to Disease11273
BioCentury BCIQATXN2L
ClinGenATXN2L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11273
Chemical/Pharm GKB GenePA128394585
Clinical trialATXN2L
Miscellaneous
canSAR (ICR)ATXN2L (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN2L
EVEXATXN2L
GoPubMedATXN2L
iHOPATXN2L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:39:18 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.