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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

Alias_symbol (synonym)MLN51
BTZ
Other alias
HGNC (Hugo) CASC3
LocusID (NCBI) 22794
Atlas_Id 241
Location 17q21.1  [Link to chromosome band 17q21]
Location_base_pair Starts at 40140254 and ends at 40172178 bp from pter ( according to hg19-Feb_2009)  [Mapping CASC3.png]
Local_order from centromere to telomere are: TRAF4 (alias MLN62/CART1), Lasp1 (alias MLN50), MLN64, c-erbB2, and MLN51
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

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
 
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
 

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) [ 6 ]
  Bone: Aneurysmal bone cysts
Bone: Aneurysmal bone cyst with t(1;17)(p34;p13) THRAP3/USP6
t(17;17)(q12;q21) CASC3/MED1
t(17;17)(q21;q24) CASC3/CEP112
t(17;17)(q21;q24) CASC3/RGS9
t(17;19)(q21;p12) CASC3/ZNF254

External links

Nomenclature
HGNC (Hugo)CASC3   17040
Cards
AtlasMLN51ID241
Entrez_Gene (NCBI)CASC3  22794  CASC3, exon junction complex subunit
AliasesBTZ; MLN51
GeneCards (Weizmann)CASC3
Ensembl hg19 (Hinxton)ENSG00000108349 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108349 [Gene_View]  ENSG00000108349 [Sequence]  chr17:40140254-40172178 [Contig_View]  CASC3 [Vega]
ICGC DataPortalENSG00000108349
TCGA cBioPortalCASC3
AceView (NCBI)CASC3
Genatlas (Paris)CASC3
WikiGenes22794
SOURCE (Princeton)CASC3
Genetics Home Reference (NIH)CASC3
Genomic and cartography
GoldenPath hg38 (UCSC)CASC3  -     chr17:40140254-40172178 +  17q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASC3  -     17q21.1   [Description]    (hg19-Feb_2009)
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)
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22794
GTEX Portal (Tissue expression)CASC3
Human Protein AtlasENSG00000108349-CASC3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15234   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15234  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15234
Splice isoforms : SwissVarO15234
PhosPhoSitePlusO15234
Domains : Interpro (EBI)Btz_dom    CASC3   
Domain families : Pfam (Sanger)Btz (PF09405)   
Domain families : Pfam (NCBI)pfam09405   
Domain families : Smart (EMBL)Btz (SM01044)  
Conserved Domain (NCBI)CASC3
DMDM Disease mutations22794
Blocks (Seattle)CASC3
PDB (SRS)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7    5XJC   
PDB (PDBSum)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7    5XJC   
PDB (IMB)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7    5XJC   
PDB (RSDB)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7    5XJC   
Structural Biology KnowledgeBase2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7    5XJC   
SCOP (Structural Classification of Proteins)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7    5XJC   
CATH (Classification of proteins structures)2HYI    2J0Q    2J0S    2J0U    2XB2    3EX7    5XJC   
SuperfamilyO15234
Human Protein Atlas [tissue]ENSG00000108349-CASC3 [tissue]
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  RNA binding  protein binding  nucleoplasm  cytosol  RNA export from nucleus  mRNA export from nucleus  regulation of translation  biological_process  intracellular mRNA localization  cytoplasmic stress granule  RNA metabolic process  nuclear speck  enzyme binding  dendrite  mRNA 3'-end processing  ubiquitin protein ligase binding  nuclear membrane  exon-exon junction complex  exon-exon junction complex  identical protein binding  perinuclear region of cytoplasm  
Ontology : EGO-EBInuclear-transcribed mRNA catabolic process, nonsense-mediated decay  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  cytosol  RNA export from nucleus  mRNA export from nucleus  regulation of translation  biological_process  intracellular mRNA localization  cytoplasmic stress granule  RNA metabolic process  nuclear speck  enzyme binding  dendrite  mRNA 3'-end processing  ubiquitin protein ligase binding  nuclear membrane  exon-exon junction complex  exon-exon junction complex  identical protein binding  perinuclear region of cytoplasm  
Pathways : KEGGRNA transport    mRNA surveillance pathway   
REACTOMEO15234 [protein]
REACTOME PathwaysR-HSA-975957 [pathway]   
NDEx NetworkCASC3
Atlas of Cancer Signalling NetworkCASC3
Wikipedia pathwaysCASC3
Orthology - Evolution
OrthoDB22794
GeneTree (enSembl)ENSG00000108349
Phylogenetic Trees/Animal Genes : TreeFamCASC3
HOVERGENO15234
HOGENOMO15234
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 PortalCASC3 17q21.1 MED1 17q12 BRCA
Fusion PortalCASC3 17q21.1 ZNF254 19p12 BRCA
Fusion : QuiverCASC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASC3
dbVarCASC3
ClinVarCASC3
1000_GenomesCASC3 
Exome Variant ServerCASC3
ExAC (Exome Aggregation Consortium)ENSG00000108349
GNOMAD BrowserENSG00000108349
Varsome BrowserCASC3
Genetic variants : HAPMAP22794
Genomic Variants (DGV)CASC3 [DGVbeta]
DECIPHERCASC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASC3 
Mutations
ICGC Data PortalCASC3 
TCGA Data PortalCASC3 
Broad Tumor PortalCASC3
OASIS PortalCASC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASC3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCASC3
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
NCG5 (London)CASC3
Cancer3DCASC3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606504   
Orphanet
DisGeNETCASC3
MedgenCASC3
Genetic Testing Registry CASC3
NextProtO15234 [Medical]
TSGene22794
GENETestsCASC3
Target ValidationCASC3
Huge Navigator CASC3 [HugePedia]
snp3D : Map Gene to Disease22794
BioCentury BCIQCASC3
ClinGenCASC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22794
Chemical/Pharm GKB GenePA134948596
Clinical trialCASC3
Miscellaneous
canSAR (ICR)CASC3 (select the gene name)
Probes
Litterature
PubMed52 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 : Mon Sep 3 15:58:20 CEST 2018
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