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TOR1AIP2 (torsin A interacting protein 2)

Identity

Alias_namestorsin A interacting protein 2
Alias_symbol (synonym)LULL1
NET9
IFRG15
Other alias
HGNC (Hugo) TOR1AIP2
LocusID (NCBI) 163590
Atlas_Id 75062
Location 1q25.2  [Link to chromosome band 1q25]
Location_base_pair Starts at 179809102 and ends at 179846941 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PTPN9 (15q24.2) / TOR1AIP2 (1q25.2)TCF7 (5q31.1) / TOR1AIP2 (1q25.2)TOR1AIP2 (1q25.2) / ACBD6 (1q25.2)
TOR1AIP2 (1q25.2) / IL4I1 (19q13.33)

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)TOR1AIP2   24055
Cards
Entrez_Gene (NCBI)TOR1AIP2  163590  torsin A interacting protein 2
AliasesIFRG15; LULL1; NET9
GeneCards (Weizmann)TOR1AIP2
Ensembl hg19 (Hinxton)ENSG00000169905 [Gene_View]  chr1:179809102-179846941 [Contig_View]  TOR1AIP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000169905 [Gene_View]  chr1:179809102-179846941 [Contig_View]  TOR1AIP2 [Vega]
ICGC DataPortalENSG00000169905
TCGA cBioPortalTOR1AIP2
AceView (NCBI)TOR1AIP2
Genatlas (Paris)TOR1AIP2
WikiGenes163590
SOURCE (Princeton)TOR1AIP2
Genetics Home Reference (NIH)TOR1AIP2
Genomic and cartography
GoldenPath hg19 (UCSC)TOR1AIP2  -     chr1:179809102-179846941 -  1q25.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TOR1AIP2  -     1q25.2   [Description]    (hg38-Dec_2013)
EnsemblTOR1AIP2 - 1q25.2 [CytoView hg19]  TOR1AIP2 - 1q25.2 [CytoView hg38]
Mapping of homologs : NCBITOR1AIP2 [Mapview hg19]  TOR1AIP2 [Mapview hg38]
OMIM614513   
Gene and transcription
Genbank (Entrez)AF464140 AJ299406 AK002036 AK057623 AK289793
RefSeq transcript (Entrez)NM_001199260 NM_022347 NM_145034
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)TOR1AIP2
Cluster EST : UnigeneHs.723247 [ NCBI ]
CGAP (NCI)Hs.723247
Alternative Splicing GalleryENSG00000169905
Gene ExpressionTOR1AIP2 [ NCBI-GEO ]   TOR1AIP2 [ EBI - ARRAY_EXPRESS ]   TOR1AIP2 [ SEEK ]   TOR1AIP2 [ MEM ]
Gene Expression Viewer (FireBrowse)TOR1AIP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)163590
GTEX Portal (Tissue expression)TOR1AIP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFQ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFQ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFQ8
Splice isoforms : SwissVarQ8NFQ8
PhosPhoSitePlusQ8NFQ8
Domains : Interpro (EBI)Lamina-ass_polypeptide_CLAP1C   
Domain families : Pfam (Sanger)LAP1C (PF05609)   
Domain families : Pfam (NCBI)pfam05609   
Conserved Domain (NCBI)TOR1AIP2
DMDM Disease mutations163590
Blocks (Seattle)TOR1AIP2
SuperfamilyQ8NFQ8
Human Protein AtlasENSG00000169905
Peptide AtlasQ8NFQ8
HPRD10048
IPIIPI00168878   IPI00007096   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFQ8
IntAct (EBI)Q8NFQ8
FunCoupENSG00000169905
BioGRIDTOR1AIP2
STRING (EMBL)TOR1AIP2
ZODIACTOR1AIP2
Ontologies - Pathways
QuickGOQ8NFQ8
Ontology : AmiGOATPase activator activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum organization  integral component of membrane  nuclear membrane  positive regulation of ATPase activity  intracellular membrane-bounded organelle  ATPase binding  protein localization to nuclear envelope  
Ontology : EGO-EBIATPase activator activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum organization  integral component of membrane  nuclear membrane  positive regulation of ATPase activity  intracellular membrane-bounded organelle  ATPase binding  protein localization to nuclear envelope  
NDEx NetworkTOR1AIP2
Atlas of Cancer Signalling NetworkTOR1AIP2
Wikipedia pathwaysTOR1AIP2
Orthology - Evolution
OrthoDB163590
GeneTree (enSembl)ENSG00000169905
Phylogenetic Trees/Animal Genes : TreeFamTOR1AIP2
HOVERGENQ8NFQ8
HOGENOMQ8NFQ8
Homologs : HomoloGeneTOR1AIP2
Homology/Alignments : Family Browser (UCSC)TOR1AIP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOR1AIP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOR1AIP2
dbVarTOR1AIP2
ClinVarTOR1AIP2
1000_GenomesTOR1AIP2 
Exome Variant ServerTOR1AIP2
ExAC (Exome Aggregation Consortium)TOR1AIP2 (select the gene name)
Genetic variants : HAPMAP163590
Genomic Variants (DGV)TOR1AIP2 [DGVbeta]
DECIPHER (Syndromes)1:179809102-179846941  ENSG00000169905
CONAN: Copy Number AnalysisTOR1AIP2 
Mutations
ICGC Data PortalTOR1AIP2 
TCGA Data PortalTOR1AIP2 
Broad Tumor PortalTOR1AIP2
OASIS PortalTOR1AIP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOR1AIP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTOR1AIP2
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 TOR1AIP2
DgiDB (Drug Gene Interaction Database)TOR1AIP2
DoCM (Curated mutations)TOR1AIP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TOR1AIP2 (select a term)
intoGenTOR1AIP2
Cancer3DTOR1AIP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614513   
Orphanet
MedgenTOR1AIP2
Genetic Testing Registry TOR1AIP2
NextProtQ8NFQ8 [Medical]
TSGene163590
GENETestsTOR1AIP2
Huge Navigator TOR1AIP2 [HugePedia]
snp3D : Map Gene to Disease163590
BioCentury BCIQTOR1AIP2
ClinGenTOR1AIP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD163590
Chemical/Pharm GKB GenePA142670716
Clinical trialTOR1AIP2
Miscellaneous
canSAR (ICR)TOR1AIP2 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTOR1AIP2
EVEXTOR1AIP2
GoPubMedTOR1AIP2
iHOPTOR1AIP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:49:21 CET 2017

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