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TXNDC12 (thioredoxin domain containing 12)

Identity

Alias_namesthioredoxin domain containing 12 (endoplasmic reticulum)
Alias_symbol (synonym)TLP19
ERP18
ERP19
hAG-1
AGR1
PDIA16
Other aliasAG1
ERP16
hTLP19
HGNC (Hugo) TXNDC12
LocusID (NCBI) 51060
Atlas_Id 55702
Location 1p32.3  [Link to chromosome band 1p32]
Location_base_pair Starts at 52020132 and ends at 52056171 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)
LOC100188947 () / TXNDC12 (1p32.3)RAB3B (1p32.3) / TXNDC12 (1p32.3)TXNDC12 (1p32.3) / FAM107B (10p13)

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)TXNDC12   24626
Cards
Entrez_Gene (NCBI)TXNDC12  51060  thioredoxin domain containing 12
AliasesAG1; AGR1; ERP16; ERP18; 
ERP19; PDIA16; TLP19; hAG-1; hTLP19
GeneCards (Weizmann)TXNDC12
Ensembl hg19 (Hinxton)ENSG00000117862 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117862 [Gene_View]  chr1:52020132-52056171 [Contig_View]  TXNDC12 [Vega]
ICGC DataPortalENSG00000117862
TCGA cBioPortalTXNDC12
AceView (NCBI)TXNDC12
Genatlas (Paris)TXNDC12
WikiGenes51060
SOURCE (Princeton)TXNDC12
Genetics Home Reference (NIH)TXNDC12
Genomic and cartography
GoldenPath hg38 (UCSC)TXNDC12  -     chr1:52020132-52056171 -  1p32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TXNDC12  -     1p32.3   [Description]    (hg19-Feb_2009)
EnsemblTXNDC12 - 1p32.3 [CytoView hg19]  TXNDC12 - 1p32.3 [CytoView hg38]
Mapping of homologs : NCBITXNDC12 [Mapview hg19]  TXNDC12 [Mapview hg38]
OMIM609448   
Gene and transcription
Genbank (Entrez)AF131758 AF543416 AK056169 AK075409 AY358982
RefSeq transcript (Entrez)NM_015913
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TXNDC12
Cluster EST : UnigeneHs.476033 [ NCBI ]
CGAP (NCI)Hs.476033
Alternative Splicing GalleryENSG00000117862
Gene ExpressionTXNDC12 [ NCBI-GEO ]   TXNDC12 [ EBI - ARRAY_EXPRESS ]   TXNDC12 [ SEEK ]   TXNDC12 [ MEM ]
Gene Expression Viewer (FireBrowse)TXNDC12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51060
GTEX Portal (Tissue expression)TXNDC12
Human Protein AtlasENSG00000117862-TXNDC12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95881   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95881  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95881
Splice isoforms : SwissVarO95881
Catalytic activity : Enzyme1.8.4.2 [ Enzyme-Expasy ]   1.8.4.21.8.4.2 [ IntEnz-EBI ]   1.8.4.2 [ BRENDA ]   1.8.4.2 [ KEGG ]   
PhosPhoSitePlusO95881
Domaine pattern : Prosite (Expaxy)THIOREDOXIN_1 (PS00194)    THIOREDOXIN_2 (PS51352)   
Domains : Interpro (EBI)Thioredoxin-like_fold    Thioredoxin_CS    Thioredoxin_domain   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TXNDC12
DMDM Disease mutations51060
Blocks (Seattle)TXNDC12
PDB (SRS)1SEN    2K8V   
PDB (PDBSum)1SEN    2K8V   
PDB (IMB)1SEN    2K8V   
PDB (RSDB)1SEN    2K8V   
Structural Biology KnowledgeBase1SEN    2K8V   
SCOP (Structural Classification of Proteins)1SEN    2K8V   
CATH (Classification of proteins structures)1SEN    2K8V   
SuperfamilyO95881
Human Protein Atlas [tissue]ENSG00000117862-TXNDC12 [tissue]
Peptide AtlasO95881
HPRD11633
IPIIPI00026328   
Protein Interaction databases
DIP (DOE-UCLA)O95881
IntAct (EBI)O95881
FunCoupENSG00000117862
BioGRIDTXNDC12
STRING (EMBL)TXNDC12
ZODIACTXNDC12
Ontologies - Pathways
QuickGOO95881
Ontology : AmiGOprotein binding  endoplasmic reticulum lumen  peptide disulfide oxidoreductase activity  protein-disulfide reductase (glutathione) activity  cell differentiation  cell redox homeostasis  oxidation-reduction process  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum lumen  peptide disulfide oxidoreductase activity  protein-disulfide reductase (glutathione) activity  cell differentiation  cell redox homeostasis  oxidation-reduction process  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  
Pathways : KEGGGlutathione metabolism   
NDEx NetworkTXNDC12
Atlas of Cancer Signalling NetworkTXNDC12
Wikipedia pathwaysTXNDC12
Orthology - Evolution
OrthoDB51060
GeneTree (enSembl)ENSG00000117862
Phylogenetic Trees/Animal Genes : TreeFamTXNDC12
HOVERGENO95881
HOGENOMO95881
Homologs : HomoloGeneTXNDC12
Homology/Alignments : Family Browser (UCSC)TXNDC12
Gene fusions - Rearrangements
Tumor Fusion PortalTXNDC12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTXNDC12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TXNDC12
dbVarTXNDC12
ClinVarTXNDC12
1000_GenomesTXNDC12 
Exome Variant ServerTXNDC12
ExAC (Exome Aggregation Consortium)ENSG00000117862
GNOMAD BrowserENSG00000117862
Genetic variants : HAPMAP51060
Genomic Variants (DGV)TXNDC12 [DGVbeta]
DECIPHERTXNDC12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTXNDC12 
Mutations
ICGC Data PortalTXNDC12 
TCGA Data PortalTXNDC12 
Broad Tumor PortalTXNDC12
OASIS PortalTXNDC12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTXNDC12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTXNDC12
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 TXNDC12
DgiDB (Drug Gene Interaction Database)TXNDC12
DoCM (Curated mutations)TXNDC12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TXNDC12 (select a term)
intoGenTXNDC12
Cancer3DTXNDC12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609448   
Orphanet
DisGeNETTXNDC12
MedgenTXNDC12
Genetic Testing Registry TXNDC12
NextProtO95881 [Medical]
TSGene51060
GENETestsTXNDC12
Target ValidationTXNDC12
Huge Navigator TXNDC12 [HugePedia]
snp3D : Map Gene to Disease51060
BioCentury BCIQTXNDC12
ClinGenTXNDC12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51060
Chemical/Pharm GKB GenePA142670665
Clinical trialTXNDC12
Miscellaneous
canSAR (ICR)TXNDC12 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTXNDC12
EVEXTXNDC12
GoPubMedTXNDC12
iHOPTXNDC12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:40:18 CET 2017

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