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

ATXN3 (ataxin 3)

Identity

Alias (NCBI)AT3
ATX3
JOS
MJD
MJD1
SCA3
HGNC (Hugo) ATXN3
HGNC Alias symbATX3
JOS
HGNC Previous nameSCA3
 MJD
HGNC Previous nameMachado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)
LocusID (NCBI) 4287
Atlas_Id 41368
Location 14q32.12  [Link to chromosome band 14q32]
Location_base_pair Starts at 92058552 and ends at 92106582 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    ataxin 3
AliasesAT3; ATX3; JOS; MJD; 
MJD1; SCA3
GeneCards (Weizmann)ATXN3
Ensembl hg19 (Hinxton)ENSG00000066427 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000066427 [Gene_View]  ENSG00000066427 [Sequence]  chr14:92058552-92106582 [Contig_View]  ATXN3 [Vega]
ICGC DataPortalENSG00000066427
TCGA cBioPortalATXN3
AceView (NCBI)ATXN3
Genatlas (Paris)ATXN3
SOURCE (Princeton)ATXN3
Genetics Home Reference (NIH)ATXN3
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN3  -     chr14:92058552-92106582 -  14q32.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN3  -     14q32.12   [Description]    (hg19-Feb_2009)
GoldenPathATXN3 - 14q32.12 [CytoView hg19]  ATXN3 - 14q32.12 [CytoView hg38]
ImmunoBaseENSG00000066427
genome Data Viewer NCBIATXN3 [Mapview hg19]  
OMIM109150   607047   
Gene and transcription
Genbank (Entrez)AB050194 AB209309 AK225884 AK307720 AK314919
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
Alternative Splicing GalleryENSG00000066427
Gene ExpressionATXN3 [ NCBI-GEO ]   ATXN3 [ EBI - ARRAY_EXPRESS ]   ATXN3 [ SEEK ]   ATXN3 [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN3 [ Firebrowse - Broad ]
GenevisibleExpression of ATXN3 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
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ATXN3
Blocks (Seattle)ATXN3
Human Protein Atlas [tissue]ENSG00000066427-ATXN3 [tissue]
HPRD06131
IPIIPI00979068   IPI00219863   IPI00219864   IPI00944599   IPI01026244   IPI01011596   IPI00607670   IPI01010735   IPI01012350   IPI01011943   IPI01019053   IPI00955448   IPI01024774   IPI01026571   IPI01026221   IPI01026345   IPI01026007   IPI00966711   IPI00944500   IPI01025357   IPI01018825   IPI01011093   IPI00895820   IPI00944678   IPI00944484   IPI01018918   IPI00944590   IPI00944542   IPI00944576   IPI00895831   IPI00944530   IPI00982117   
Protein Interaction databases
BioGRIDATXN3
STRING (EMBL)ATXN3
ZODIACATXN3
Ontologies - Pathways
Litterature
PubMed278 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATXN3
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 : Thu Mar 25 19:12:15 CET 2021

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.