Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TXNIP (thioredoxin interacting protein)

Identity

Alias_symbol (synonym)VDUP1
EST01027
HHCPA78
THIF
ARRDC6
Other alias
HGNC (Hugo) TXNIP
LocusID (NCBI) 10628
Atlas_Id 46111
Location 1q21.1  [Link to chromosome band 1q21]
Location_base_pair Starts at 145992426 and ends at 145996631 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)
CERS6 (2q24.3) / TXNIP (1q21.1)CYB5R3 (22q13.2) / TXNIP (1q21.1)NYAP1 (7q22.1) / TXNIP (1q21.1)
TXNIP (1q21.1) / CERS6 (2q24.3)TXNIP (1q21.1) / DMD (Xp21.2)TXNIP (1q21.1) / KARS (16q23.1)
TXNIP (1q21.1) / KLHL17 (1p36.33)TXNIP (1q21.1) / NOTCH2NL (1q21.1)TXNIP (1q21.1) / TXNIP (1q21.1)

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) [ 3 ]
  Lung: Translocations in Small Cell Carcinoma
t(1;1)(q21;q21) TXNIP/NOTCH2NL
t(1;22)(q21;q13) CYB5R3/TXNIP

External links

Nomenclature
HGNC (Hugo)TXNIP   16952
Cards
Entrez_Gene (NCBI)TXNIP  10628  thioredoxin interacting protein
AliasesARRDC6; EST01027; HHCPA78; THIF; 
VDUP1
GeneCards (Weizmann)TXNIP
Ensembl hg19 (Hinxton)ENSG00000265972 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000265972 [Gene_View]  ENSG00000265972 [Sequence]  chr1:145992426-145996631 [Contig_View]  TXNIP [Vega]
ICGC DataPortalENSG00000265972
TCGA cBioPortalTXNIP
AceView (NCBI)TXNIP
Genatlas (Paris)TXNIP
WikiGenes10628
SOURCE (Princeton)TXNIP
Genetics Home Reference (NIH)TXNIP
Genomic and cartography
GoldenPath hg38 (UCSC)TXNIP  -     chr1:145992426-145996631 -  1q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TXNIP  -     1q21.1   [Description]    (hg19-Feb_2009)
EnsemblTXNIP - 1q21.1 [CytoView hg19]  TXNIP - 1q21.1 [CytoView hg38]
Mapping of homologs : NCBITXNIP [Mapview hg19]  TXNIP [Mapview hg38]
OMIM606599   
Gene and transcription
Genbank (Entrez)AA805348 AK226090 AK301148 AK301203 AK304670
RefSeq transcript (Entrez)NM_001313972 NM_006472
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TXNIP
Cluster EST : UnigeneHs.709057 [ NCBI ]
CGAP (NCI)Hs.709057
Alternative Splicing GalleryENSG00000265972
Gene ExpressionTXNIP [ NCBI-GEO ]   TXNIP [ EBI - ARRAY_EXPRESS ]   TXNIP [ SEEK ]   TXNIP [ MEM ]
Gene Expression Viewer (FireBrowse)TXNIP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10628
GTEX Portal (Tissue expression)TXNIP
Human Protein AtlasENSG00000265972-TXNIP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H3M7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H3M7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H3M7
Splice isoforms : SwissVarQ9H3M7
PhosPhoSitePlusQ9H3M7
Domains : Interpro (EBI)Arrestin-like_N    Arrestin_C-like    Ig_E-set   
Domain families : Pfam (Sanger)Arrestin_C (PF02752)    Arrestin_N (PF00339)   
Domain families : Pfam (NCBI)pfam02752    pfam00339   
Domain families : Smart (EMBL)Arrestin_C (SM01017)  
Conserved Domain (NCBI)TXNIP
DMDM Disease mutations10628
Blocks (Seattle)TXNIP
PDB (SRS)4GEI    4GEJ    4GFX    4LL1    4LL4    4ROF    4ROJ    5CQ2    5DF6    5DWS    5DZD   
PDB (PDBSum)4GEI    4GEJ    4GFX    4LL1    4LL4    4ROF    4ROJ    5CQ2    5DF6    5DWS    5DZD   
PDB (IMB)4GEI    4GEJ    4GFX    4LL1    4LL4    4ROF    4ROJ    5CQ2    5DF6    5DWS    5DZD   
PDB (RSDB)4GEI    4GEJ    4GFX    4LL1    4LL4    4ROF    4ROJ    5CQ2    5DF6    5DWS    5DZD   
Structural Biology KnowledgeBase4GEI    4GEJ    4GFX    4LL1    4LL4    4ROF    4ROJ    5CQ2    5DF6    5DWS    5DZD   
SCOP (Structural Classification of Proteins)4GEI    4GEJ    4GFX    4LL1    4LL4    4ROF    4ROJ    5CQ2    5DF6    5DWS    5DZD   
CATH (Classification of proteins structures)4GEI    4GEJ    4GFX    4LL1    4LL4    4ROF    4ROJ    5CQ2    5DF6    5DWS    5DZD   
SuperfamilyQ9H3M7
Human Protein Atlas [tissue]ENSG00000265972-TXNIP [tissue]
Peptide AtlasQ9H3M7
HPRD05964
IPIIPI00007956   IPI00909604   IPI00514375   
Protein Interaction databases
DIP (DOE-UCLA)Q9H3M7
IntAct (EBI)Q9H3M7
FunCoupENSG00000265972
BioGRIDTXNIP
STRING (EMBL)TXNIP
ZODIACTXNIP
Ontologies - Pathways
QuickGOQ9H3M7
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  enzyme inhibitor activity  protein binding  nucleus  cytoplasm  mitochondrial intermembrane space  cytosol  transcription, DNA-templated  protein import into nucleus  cell cycle  response to mechanical stimulus  response to glucose  keratinocyte differentiation  ubiquitin protein ligase binding  response to estradiol  response to progesterone  regulation of cell proliferation  response to hydrogen peroxide  positive regulation of apoptotic process  negative regulation of catalytic activity  platelet-derived growth factor receptor signaling pathway  response to calcium ion  negative regulation of cell division  cellular response to tumor cell  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  enzyme inhibitor activity  protein binding  nucleus  cytoplasm  mitochondrial intermembrane space  cytosol  transcription, DNA-templated  protein import into nucleus  cell cycle  response to mechanical stimulus  response to glucose  keratinocyte differentiation  ubiquitin protein ligase binding  response to estradiol  response to progesterone  regulation of cell proliferation  response to hydrogen peroxide  positive regulation of apoptotic process  negative regulation of catalytic activity  platelet-derived growth factor receptor signaling pathway  response to calcium ion  negative regulation of cell division  cellular response to tumor cell  
NDEx NetworkTXNIP
Atlas of Cancer Signalling NetworkTXNIP
Wikipedia pathwaysTXNIP
Orthology - Evolution
OrthoDB10628
GeneTree (enSembl)ENSG00000265972
Phylogenetic Trees/Animal Genes : TreeFamTXNIP
HOVERGENQ9H3M7
HOGENOMQ9H3M7
Homologs : HomoloGeneTXNIP
Homology/Alignments : Family Browser (UCSC)TXNIP
Gene fusions - Rearrangements
Fusion : MitelmanCYB5R3/TXNIP [22q13.2/1q21.1]  [t(1;22)(q21;q13)]  
Fusion : MitelmanTXNIP/NOTCH2NL [1q21.1/1q21.1]  [t(1;1)(q21;q21)]  
Fusion : QuiverTXNIP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTXNIP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TXNIP
dbVarTXNIP
ClinVarTXNIP
1000_GenomesTXNIP 
Exome Variant ServerTXNIP
ExAC (Exome Aggregation Consortium)ENSG00000265972
GNOMAD BrowserENSG00000265972
Genetic variants : HAPMAP10628
Genomic Variants (DGV)TXNIP [DGVbeta]
DECIPHERTXNIP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTXNIP 
Mutations
ICGC Data PortalTXNIP 
TCGA Data PortalTXNIP 
Broad Tumor PortalTXNIP
OASIS PortalTXNIP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTXNIP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTXNIP
intOGen PortalTXNIP
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 TXNIP
DgiDB (Drug Gene Interaction Database)TXNIP
DoCM (Curated mutations)TXNIP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TXNIP (select a term)
intoGenTXNIP
Cancer3DTXNIP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606599   
Orphanet
DisGeNETTXNIP
MedgenTXNIP
Genetic Testing Registry TXNIP
NextProtQ9H3M7 [Medical]
TSGene10628
GENETestsTXNIP
Target ValidationTXNIP
Huge Navigator TXNIP [HugePedia]
snp3D : Map Gene to Disease10628
BioCentury BCIQTXNIP
ClinGenTXNIP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10628
Chemical/Pharm GKB GenePA38194
Clinical trialTXNIP
Miscellaneous
canSAR (ICR)TXNIP (select the gene name)
Probes
Litterature
PubMed154 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTXNIP
EVEXTXNIP
GoPubMedTXNIP
iHOPTXNIP
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 : Fri Jun 22 16:56:02 CEST 2018
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