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CASC3 (cancer susceptibility candidate 3)

Written2002-03Sébastien Degot
I.G.B.M.C, 1, rue Laurent FRIES, BP 163 67404 ILLKIRH, France

(Note : for Links provided by Atlas : click)

Identity

Other namesBTZ
MLN51
HGNC (Hugo) CASC3
LocusID (NCBI) 22794
Atlas_Id 241
Location 17q21.1
Location_base_pair Starts at 38296507 and ends at 38328431 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order from centromere to telomere are: TRAF4 (alias MLN62/CART1), Lasp1 (alias MLN50), MLN64, c-erbB2, and MLN51
Fusion genes
(updated 2016)
CASC3 (17q21.1) / CASC3 (17q21.1)CASC3 (17q21.1) / CEP112 (17q24.1)CASC3 (17q21.1) / CTDSP1 (2q35)
CASC3 (17q21.1) / EXOSC10 (1p36.22)CASC3 (17q21.1) / MED1 (17q12)CASC3 (17q21.1) / RGS9 (17q24.1)
CASC3 (17q21.1) / ZNF254 (19p12)CHKA (11q13.2) / CASC3 (17q21.1)IQCD (12q24.13) / CASC3 (17q21.1)
PTMA (2q37.1) / CASC3 (17q21.1)

DNA/RNA

Description composed of 14 exons, gene size: approximately 16 kb
Transcription cDNA:4.1kb; coding sequence: 2111 bp

Protein

Description 703 amino acids; theorical molecular weigth 76kDa, observed molecular weigth 115kDa; contains a functional coiled-coil domain and two functional NLS at its N-terminal part; possesses a proline-rich region with four potential SH3 domain binding sites at its C-terminal part
Expression ubiquitous
Localisation cytoplasmic with a perinuclear accumulation
Function unknown
Homology counterparts can be deduced from mouse, zebrafish, worm and drosophila genomes

Implicated in

Note
Entity breast carcinomas
Note overexpression is found in 12 to 30% of primary breast carcinomas
  

Bibliography

Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17.
Tomasetto C, Régnier C, Moog-Lutz C, Mattei MG, Chenard MP, Lidereau R, Basset P, Rio MC
Genomics. 1995 ; 28 (3) : 367-376.
PMID 7490069
 
Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer.
Bièche I, Tomasetto C, Régnier CH, Moog-Lutz C, Rio MC, Lidereau R
Cancer research. 1996 ; 56 (17) : 3886-3890.
PMID 8752152
 
Metastatic Lymph Node 51, a novel nucleo-cytoplasmic protein overexpressed in breast cancer.
Degot S, Régnier CH, Wendling C, Chenard MP, Rio MC, Tomasetto C
Oncogene. 2002 ; 21 (28) : 4422-4434.
PMID 12080473
 

Citation

This paper should be referenced as such :
Degot, S
MLN51 (metastatic lymph node protein 51)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):190-190.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MLN51ID241.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Bone: Aneurysmal bone cysts
Bone: Aneurysmal bone cyst with t(1;17)(p34;p13) THRAP3/USP6

External links

Nomenclature
HGNC (Hugo)CASC3   17040
Cards
AtlasMLN51ID241
Entrez_Gene (NCBI)CASC3  22794  cancer susceptibility candidate 3
GeneCards (Weizmann)CASC3
Ensembl hg19 (Hinxton)ENSG00000108349 [Gene_View]  chr17:38296507-38328431 [Contig_View]  CASC3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108349 [Gene_View]  chr17:38296507-38328431 [Contig_View]  CASC3 [Vega]
ICGC DataPortalENSG00000108349
TCGA cBioPortalCASC3
AceView (NCBI)CASC3
Genatlas (Paris)CASC3
WikiGenes22794
SOURCE (Princeton)CASC3
Genomic and cartography
GoldenPath hg19 (UCSC)CASC3  -     chr17:38296507-38328431 +  17q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CASC3  -     17q21.1   [Description]    (hg38-Dec_2013)
EnsemblCASC3 - 17q21.1 [CytoView hg19]  CASC3 - 17q21.1 [CytoView hg38]
Mapping of homologs : NCBICASC3 [Mapview hg19]  CASC3 [Mapview hg38]
OMIM606504   
Gene and transcription
Genbank (Entrez)AK096126 AK292425 AK296682 AK310635 BC030008
RefSeq transcript (Entrez)NM_007359
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)CASC3
Cluster EST : UnigeneHs.743287 [ NCBI ]
CGAP (NCI)Hs.743287
Alternative Splicing GalleryENSG00000108349
Gene ExpressionCASC3 [ NCBI-GEO ]   CASC3 [ EBI - ARRAY_EXPRESS ]   CASC3 [ SEEK ]   CASC3 [ MEM ]
Gene Expression Viewer (FireBrowse)CASC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22794
GTEX Portal (Tissue expression)CASC3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15234 (Uniprot)
NextProtO15234  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15234
Splice isoforms : SwissVarO15234 (Swissvar)
PhosPhoSitePlusO15234
Domains : Interpro (EBI)Btz_dom    CASC3   
Domain families : Pfam (Sanger)Btz (PF09405)   
Domain families : Pfam (NCBI)pfam09405   
Domain families : Smart (EMBL)Btz (SM01044)  
DMDM Disease mutations22794
Blocks (Seattle)CASC3
PDB (SRS)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7   
PDB (PDBSum)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7   
PDB (IMB)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7   
PDB (RSDB)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7   
Structural Biology KnowledgeBase2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7   
SCOP (Structural Classification of Proteins)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7   
CATH (Classification of proteins structures)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7   
SuperfamilyO15234
Human Protein AtlasENSG00000108349
Peptide AtlasO15234
HPRD16225
IPIIPI00289491   IPI00909543   
Protein Interaction databases
DIP (DOE-UCLA)O15234
IntAct (EBI)O15234
FunCoupENSG00000108349
BioGRIDCASC3
STRING (EMBL)CASC3
ZODIACCASC3
Ontologies - Pathways
QuickGOO15234
Ontology : AmiGOnuclear-transcribed mRNA catabolic process, nonsense-mediated decay  mRNA splicing, via spliceosome  protein binding  nucleoplasm  cytosol  termination of RNA polymerase II transcription  RNA export from nucleus  mRNA export from nucleus  regulation of translation  biological_process  intracellular mRNA localization  RNA metabolic process  nuclear speck  enzyme binding  intracellular ribonucleoprotein complex  mRNA 3'-end processing  ubiquitin protein ligase binding  exon-exon junction complex  identical protein binding  poly(A) RNA binding  perinuclear region of cytoplasm  
Ontology : EGO-EBInuclear-transcribed mRNA catabolic process, nonsense-mediated decay  mRNA splicing, via spliceosome  protein binding  nucleoplasm  cytosol  termination of RNA polymerase II transcription  RNA export from nucleus  mRNA export from nucleus  regulation of translation  biological_process  intracellular mRNA localization  RNA metabolic process  nuclear speck  enzyme binding  intracellular ribonucleoprotein complex  mRNA 3'-end processing  ubiquitin protein ligase binding  exon-exon junction complex  identical protein binding  poly(A) RNA binding  perinuclear region of cytoplasm  
Pathways : KEGGRNA transport    mRNA surveillance pathway   
REACTOMEO15234 [protein]
REACTOME PathwaysR-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkCASC3
Wikipedia pathwaysCASC3
Orthology - Evolution
OrthoDB22794
GeneTree (enSembl)ENSG00000108349
Phylogenetic Trees/Animal Genes : TreeFamCASC3
Homologs : HomoloGeneCASC3
Homology/Alignments : Family Browser (UCSC)CASC3
Gene fusions - Rearrangements
Fusion : MitelmanCASC3/MED1 [17q21.1/17q12]  
Fusion : MitelmanCASC3/ZNF254 [17q21.1/19p12]  [t(17;19)(q21;p12)]  
Fusion: TCGACASC3 17q21.1 MED1 17q12 BRCA
Fusion: TCGACASC3 17q21.1 ZNF254 19p12 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerCASC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASC3
dbVarCASC3
ClinVarCASC3
1000_GenomesCASC3 
Exome Variant ServerCASC3
ExAC (Exome Aggregation Consortium)CASC3 (select the gene name)
Genetic variants : HAPMAP22794
Genomic Variants (DGV)CASC3 [DGVbeta]
Mutations
ICGC Data PortalCASC3 
TCGA Data PortalCASC3 
Broad Tumor PortalCASC3
OASIS PortalCASC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASC3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CASC3
DgiDB (Drug Gene Interaction Database)CASC3
DoCM (Curated mutations)CASC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASC3 (select a term)
intoGenCASC3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:38296507-38328431  ENSG00000108349
CONAN: Copy Number AnalysisCASC3 
Mutations and Diseases : HGMDCASC3
OMIM606504   
MedgenCASC3
Genetic Testing Registry CASC3
NextProtO15234 [Medical]
TSGene22794
GENETestsCASC3
Huge Navigator CASC3 [HugePedia]
snp3D : Map Gene to Disease22794
BioCentury BCIQCASC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22794
Chemical/Pharm GKB GenePA134948596
Clinical trialCASC3
Miscellaneous
canSAR (ICR)CASC3 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASC3
EVEXCASC3
GoPubMedCASC3
iHOPCASC3
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 8 19:19:07 CEST 2016

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