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TOR2A (torsin family 2 member A)

Identity

Alias_namestorsin family 2
Alias_symbol (synonym)FLJ14771
TORP1
Other alias
HGNC (Hugo) TOR2A
LocusID (NCBI) 27433
Atlas_Id 53373
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 127731524 and ends at 127735349 bp from pter ( according to hg38-Dec_2013)

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)TOR2A   11996
Cards
Entrez_Gene (NCBI)TOR2A  27433  torsin family 2 member A
AliasesTORP1
GeneCards (Weizmann)TOR2A
Ensembl hg19 (Hinxton)ENSG00000160404 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160404 [Gene_View]  chr9:127731524-127735349 [Contig_View]  TOR2A [Vega]
ICGC DataPortalENSG00000160404
TCGA cBioPortalTOR2A
AceView (NCBI)TOR2A
Genatlas (Paris)TOR2A
WikiGenes27433
SOURCE (Princeton)TOR2A
Genetics Home Reference (NIH)TOR2A
Genomic and cartography
GoldenPath hg38 (UCSC)TOR2A  -     chr9:127731524-127735349 -  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TOR2A  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblTOR2A - 9q34.11 [CytoView hg19]  TOR2A - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBITOR2A [Mapview hg19]  TOR2A [Mapview hg38]
OMIM608052   
Gene and transcription
Genbank (Entrez)AK027677 AK055034 AK075520 AK092388 AY358180
RefSeq transcript (Entrez)NM_001085347 NM_001134430 NM_001134431 NM_001252018 NM_001252021 NM_001252023 NM_130459
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TOR2A
Cluster EST : UnigeneHs.444106 [ NCBI ]
CGAP (NCI)Hs.444106
Alternative Splicing GalleryENSG00000160404
Gene ExpressionTOR2A [ NCBI-GEO ]   TOR2A [ EBI - ARRAY_EXPRESS ]   TOR2A [ SEEK ]   TOR2A [ MEM ]
Gene Expression Viewer (FireBrowse)TOR2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27433
GTEX Portal (Tissue expression)TOR2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N2E6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N2E6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N2E6
Splice isoforms : SwissVarQ8N2E6
PhosPhoSitePlusQ8N2E6
Domains : Interpro (EBI)P-loop_NTPase    Torsin   
Domain families : Pfam (Sanger)Torsin (PF06309)   
Domain families : Pfam (NCBI)pfam06309   
Conserved Domain (NCBI)TOR2A
DMDM Disease mutations27433
Blocks (Seattle)TOR2A
SuperfamilyQ8N2E6
Human Protein AtlasENSG00000160404
Peptide AtlasQ8N2E6
HPRD16271
IPIIPI00432753   IPI00045800   IPI00909811   IPI00395845   
Protein Interaction databases
DIP (DOE-UCLA)Q8N2E6
IntAct (EBI)Q8N2E6
FunCoupENSG00000160404
BioGRIDTOR2A
STRING (EMBL)TOR2A
ZODIACTOR2A
Ontologies - Pathways
QuickGOQ8N2E6
Ontology : AmiGOATP binding  endoplasmic reticulum lumen  chaperone mediated protein folding requiring cofactor  protein homooligomerization  
Ontology : EGO-EBIATP binding  endoplasmic reticulum lumen  chaperone mediated protein folding requiring cofactor  protein homooligomerization  
NDEx NetworkTOR2A
Atlas of Cancer Signalling NetworkTOR2A
Wikipedia pathwaysTOR2A
Orthology - Evolution
OrthoDB27433
GeneTree (enSembl)ENSG00000160404
Phylogenetic Trees/Animal Genes : TreeFamTOR2A
HOVERGENQ8N2E6
HOGENOMQ8N2E6
Homologs : HomoloGeneTOR2A
Homology/Alignments : Family Browser (UCSC)TOR2A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOR2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOR2A
dbVarTOR2A
ClinVarTOR2A
1000_GenomesTOR2A 
Exome Variant ServerTOR2A
ExAC (Exome Aggregation Consortium)TOR2A (select the gene name)
Genetic variants : HAPMAP27433
Genomic Variants (DGV)TOR2A [DGVbeta]
DECIPHERTOR2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTOR2A 
Mutations
ICGC Data PortalTOR2A 
TCGA Data PortalTOR2A 
Broad Tumor PortalTOR2A
OASIS PortalTOR2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOR2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTOR2A
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 TOR2A
DgiDB (Drug Gene Interaction Database)TOR2A
DoCM (Curated mutations)TOR2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TOR2A (select a term)
intoGenTOR2A
Cancer3DTOR2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608052   
Orphanet
MedgenTOR2A
Genetic Testing Registry TOR2A
NextProtQ8N2E6 [Medical]
TSGene27433
GENETestsTOR2A
Huge Navigator TOR2A [HugePedia]
snp3D : Map Gene to Disease27433
BioCentury BCIQTOR2A
ClinGenTOR2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27433
Chemical/Pharm GKB GenePA36677
Clinical trialTOR2A
Miscellaneous
canSAR (ICR)TOR2A (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTOR2A
EVEXTOR2A
GoPubMedTOR2A
iHOPTOR2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:41:49 CEST 2017

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