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TOR1AIP2 (torsin 1A interacting protein 2)

Identity

Alias (NCBI)IFRG15
LULL1
NET9
HGNC (Hugo) TOR1AIP2
HGNC Alias symbLULL1
NET9
IFRG15
HGNC Previous nametorsin A interacting protein 2
LocusID (NCBI) 163590
Atlas_Id 75062
Location 1q25.2  [Link to chromosome band 1q25]
Location_base_pair Starts at 179839967 and ends at 179877806 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)
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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  TOR1AIP2/ACBD6 (1q25)

External links

Nomenclature
HGNC (Hugo)TOR1AIP2   24055
Cards
Entrez_Gene (NCBI)TOR1AIP2    torsin 1A interacting protein 2
AliasesIFRG15; LULL1; NET9
GeneCards (Weizmann)TOR1AIP2
Ensembl hg19 (Hinxton)ENSG00000169905 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169905 [Gene_View]  ENSG00000169905 [Sequence]  chr1:179839967-179877806 [Contig_View]  TOR1AIP2 [Vega]
ICGC DataPortalENSG00000169905
TCGA cBioPortalTOR1AIP2
AceView (NCBI)TOR1AIP2
Genatlas (Paris)TOR1AIP2
SOURCE (Princeton)TOR1AIP2
Genetics Home Reference (NIH)TOR1AIP2
Genomic and cartography
GoldenPath hg38 (UCSC)TOR1AIP2  -     chr1:179839967-179877806 -  1q25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TOR1AIP2  -     1q25.2   [Description]    (hg19-Feb_2009)
GoldenPathTOR1AIP2 - 1q25.2 [CytoView hg19]  TOR1AIP2 - 1q25.2 [CytoView hg38]
ImmunoBaseENSG00000169905
genome Data Viewer NCBITOR1AIP2 [Mapview hg19]  
OMIM614513   
Gene and transcription
Genbank (Entrez)AF464140 AJ299406 AK002036 AK057623 AK289793
RefSeq transcript (Entrez)NM_001199260 NM_001349931 NM_001349933 NM_001349934 NM_001349935 NM_001349936 NM_001349937 NM_022347 NM_145034
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TOR1AIP2
Alternative Splicing GalleryENSG00000169905
Gene ExpressionTOR1AIP2 [ NCBI-GEO ]   TOR1AIP2 [ EBI - ARRAY_EXPRESS ]   TOR1AIP2 [ SEEK ]   TOR1AIP2 [ MEM ]
Gene Expression Viewer (FireBrowse)TOR1AIP2 [ Firebrowse - Broad ]
GenevisibleExpression of TOR1AIP2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)163590
GTEX Portal (Tissue expression)TOR1AIP2
Human Protein AtlasENSG00000169905-TOR1AIP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H496   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H496  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H496
Splice isoforms : SwissVarQ9H496
PhosPhoSitePlusQ9H496
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TOR1AIP2
Blocks (Seattle)TOR1AIP2
SuperfamilyQ9H496
Human Protein Atlas [tissue]ENSG00000169905-TOR1AIP2 [tissue]
Peptide AtlasQ9H496
HPRD10048
IPIIPI00168878   IPI00007096   
Protein Interaction databases
DIP (DOE-UCLA)Q9H496
IntAct (EBI)Q9H496
BioGRIDTOR1AIP2
STRING (EMBL)TOR1AIP2
ZODIACTOR1AIP2
Ontologies - Pathways
QuickGOQ9H496
Ontology : AmiGOATPase activator activity  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum organization  integral component of membrane  nuclear membrane  positive regulation of ATPase activity  ATPase binding  protein localization to nuclear envelope  
Ontology : EGO-EBIATPase activator activity  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum organization  integral component of membrane  nuclear membrane  positive regulation of ATPase activity  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
HOGENOMQ9H496
Homologs : HomoloGeneTOR1AIP2
Homology/Alignments : Family Browser (UCSC)TOR1AIP2
Gene fusions - Rearrangements
Fusion : QuiverTOR1AIP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOR1AIP2 [hg38]
dbVarTOR1AIP2
ClinVarTOR1AIP2
MonarchTOR1AIP2
1000_GenomesTOR1AIP2 
Exome Variant ServerTOR1AIP2
GNOMAD BrowserENSG00000169905
Varsome BrowserTOR1AIP2
Genomic Variants (DGV)TOR1AIP2 [DGVbeta]
DECIPHERTOR1AIP2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTOR1AIP2
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614513   
Orphanet
DisGeNETTOR1AIP2
MedgenTOR1AIP2
Genetic Testing Registry TOR1AIP2
NextProtQ9H496 [Medical]
GENETestsTOR1AIP2
Target ValidationTOR1AIP2
Huge Navigator TOR1AIP2 [HugePedia]
ClinGenTOR1AIP2
Clinical trials, drugs, therapy
MyCancerGenomeTOR1AIP2
Protein Interactions : CTD
Pharm GKB GenePA142670716
Clinical trialTOR1AIP2
Miscellaneous
canSAR (ICR)TOR1AIP2 (select the gene name)
HarmonizomeTOR1AIP2
DataMed IndexTOR1AIP2
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTOR1AIP2
EVEXTOR1AIP2
GoPubMedTOR1AIP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:32:49 CET 2020
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