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TUSC3 (tumor suppressor candidate 3)

Identity

Alias_namesMRT22
mental retardation, non-syndromic, autosomal recessive, 22
Alias_symbol (synonym)MGC13453
N33
OST3A
MRT7
MagT2
SLC58A2
Other aliasD8S1992
M33
HGNC (Hugo) TUSC3
LocusID (NCBI) 7991
Atlas_Id 42732
Location 8p22  [Link to chromosome band 8p22]
Location_base_pair Starts at 15540087 and ends at 15766649 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)
ARHGEF7 (13q34) / TUSC3 (8p22)FAM160B2 (8p21.3) / TUSC3 (8p22)SCML4 (6q21) / TUSC3 (8p22)
SLC20A2 (8p11.21) / TUSC3 (8p22)TUSC3 (8p22) / LOXL2 (8p21.3)TUSC3 (8p22) / SORBS3 (8p21.3)
SCML4 6q21 / TUSC3 8p22SLC20A2 8p11.21 / TUSC3 8p22TUSC3 8p22 / LOXL2 8p21.3
TUSC3 8p22 / SORBS3 8p21.3

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 ]
  t(8;8)(p11;p22) SLC20A2/TUSC3
t(8;8)(p21;p22) TUSC3/LOXL2
t(8;8)(p21;p22) TUSC3/SORBS3

External links

Nomenclature
HGNC (Hugo)TUSC3   30242
Cards
Entrez_Gene (NCBI)TUSC3  7991  tumor suppressor candidate 3
AliasesD8S1992; M33; MRT22; MRT7; 
MagT2; N33; OST3A; SLC58A2
GeneCards (Weizmann)TUSC3
Ensembl hg19 (Hinxton)ENSG00000104723 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104723 [Gene_View]  ENSG00000104723 [Sequence]  chr8:15540087-15766649 [Contig_View]  TUSC3 [Vega]
ICGC DataPortalENSG00000104723
TCGA cBioPortalTUSC3
AceView (NCBI)TUSC3
Genatlas (Paris)TUSC3
WikiGenes7991
SOURCE (Princeton)TUSC3
Genetics Home Reference (NIH)TUSC3
Genomic and cartography
GoldenPath hg38 (UCSC)TUSC3  -     chr8:15540087-15766649 +  8p22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TUSC3  -     8p22   [Description]    (hg19-Feb_2009)
GoldenPathTUSC3 - 8p22 [CytoView hg19]  TUSC3 - 8p22 [CytoView hg38]
ImmunoBaseENSG00000104723
Mapping of homologs : NCBITUSC3 [Mapview hg19]  TUSC3 [Mapview hg38]
OMIM601385   611093   
Gene and transcription
Genbank (Entrez)AF028729 AI366810 AK026149 AY530159 AY562998
RefSeq transcript (Entrez)NM_001356429 NM_006765 NM_178234
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TUSC3
Alternative Splicing GalleryENSG00000104723
Gene ExpressionTUSC3 [ NCBI-GEO ]   TUSC3 [ EBI - ARRAY_EXPRESS ]   TUSC3 [ SEEK ]   TUSC3 [ MEM ]
Gene Expression Viewer (FireBrowse)TUSC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7991
GTEX Portal (Tissue expression)TUSC3
Human Protein AtlasENSG00000104723-TUSC3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13454   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13454  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13454
Splice isoforms : SwissVarQ13454
PhosPhoSitePlusQ13454
Domains : Interpro (EBI)OligosaccharylTrfase_OST3/OST6    Thioredoxin-like_sf   
Domain families : Pfam (Sanger)OST3_OST6 (PF04756)   
Domain families : Pfam (NCBI)pfam04756   
Conserved Domain (NCBI)TUSC3
DMDM Disease mutations7991
Blocks (Seattle)TUSC3
PDB (RSDB)4M8G    4M90    4M91    4M92   
PDB Europe4M8G    4M90    4M91    4M92   
PDB (PDBSum)4M8G    4M90    4M91    4M92   
PDB (IMB)4M8G    4M90    4M91    4M92   
Structural Biology KnowledgeBase4M8G    4M90    4M91    4M92   
SCOP (Structural Classification of Proteins)4M8G    4M90    4M91    4M92   
CATH (Classification of proteins structures)4M8G    4M90    4M91    4M92   
SuperfamilyQ13454
Human Protein Atlas [tissue]ENSG00000104723-TUSC3 [tissue]
Peptide AtlasQ13454
HPRD03228
IPIIPI00013328   IPI00257731   IPI00964286   IPI00968121   IPI00967246   
Protein Interaction databases
DIP (DOE-UCLA)Q13454
IntAct (EBI)Q13454
FunCoupENSG00000104723
BioGRIDTUSC3
STRING (EMBL)TUSC3
ZODIACTUSC3
Ontologies - Pathways
QuickGOQ13454
Ontology : AmiGOmitochondrion  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  protein N-linked glycosylation  oligosaccharyltransferase complex  oligosaccharyltransferase complex  magnesium ion transmembrane transporter activity  magnesium ion transmembrane transporter activity  magnesium ion transport  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  cognition  transmembrane transport  magnesium ion transmembrane transport  
Ontology : EGO-EBImitochondrion  endoplasmic reticulum membrane  plasma membrane  integral component of plasma membrane  protein N-linked glycosylation  oligosaccharyltransferase complex  oligosaccharyltransferase complex  magnesium ion transmembrane transporter activity  magnesium ion transmembrane transporter activity  magnesium ion transport  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  protein N-linked glycosylation via asparagine  cognition  transmembrane transport  magnesium ion transmembrane transport  
Pathways : KEGGN-Glycan biosynthesis    Protein processing in endoplasmic reticulum   
NDEx NetworkTUSC3
Atlas of Cancer Signalling NetworkTUSC3
Wikipedia pathwaysTUSC3
Orthology - Evolution
OrthoDB7991
GeneTree (enSembl)ENSG00000104723
Phylogenetic Trees/Animal Genes : TreeFamTUSC3
HOGENOMQ13454
Homologs : HomoloGeneTUSC3
Homology/Alignments : Family Browser (UCSC)TUSC3
Gene fusions - Rearrangements
Fusion : MitelmanSLC20A2/TUSC3 [8p11.21/8p22]  [t(8;8)(p11;p22)]  
Fusion : MitelmanTUSC3/LOXL2 [8p22/8p21.3]  [t(8;8)(p21;p22)]  
Fusion : MitelmanTUSC3/SORBS3 [8p22/8p21.3]  [t(8;8)(p21;p22)]  
Fusion PortalSCML4 6q21 TUSC3 8p22 BRCA
Fusion PortalSLC20A2 8p11.21 TUSC3 8p22 BRCA
Fusion PortalTUSC3 8p22 LOXL2 8p21.3 PRAD
Fusion PortalTUSC3 8p22 SORBS3 8p21.3 BRCA
Fusion : QuiverTUSC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTUSC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TUSC3
dbVarTUSC3
ClinVarTUSC3
1000_GenomesTUSC3 
Exome Variant ServerTUSC3
ExAC (Exome Aggregation Consortium)ENSG00000104723
GNOMAD BrowserENSG00000104723
Varsome BrowserTUSC3
Genetic variants : HAPMAP7991
Genomic Variants (DGV)TUSC3 [DGVbeta]
DECIPHERTUSC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTUSC3 
Mutations
ICGC Data PortalTUSC3 
TCGA Data PortalTUSC3 
Broad Tumor PortalTUSC3
OASIS PortalTUSC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTUSC3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTUSC3
Mutations and Diseases : HGMDTUSC3
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch TUSC3
DgiDB (Drug Gene Interaction Database)TUSC3
DoCM (Curated mutations)TUSC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TUSC3 (select a term)
intoGenTUSC3
Cancer3DTUSC3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601385    611093   
Orphanet11804   
DisGeNETTUSC3
MedgenTUSC3
Genetic Testing Registry TUSC3
NextProtQ13454 [Medical]
TSGene7991
GENETestsTUSC3
Target ValidationTUSC3
Huge Navigator TUSC3 [HugePedia]
snp3D : Map Gene to Disease7991
BioCentury BCIQTUSC3
ClinGenTUSC3
Clinical trials, drugs, therapy
Protein Interactions : CTD7991
Pharm GKB GenePA128394537
Clinical trialTUSC3
Miscellaneous
canSAR (ICR)TUSC3 (select the gene name)
HarmonizomeTUSC3
DataMed IndexTUSC3
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTUSC3
EVEXTUSC3
GoPubMedTUSC3
iHOPTUSC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 20:34:58 CEST 2020
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