CASC3 (cancer susceptibility candidate 3)

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CASC3 (cancer susceptibility candidate 3)

Written	2002-03	Sébastien 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) [ 2 ]

Bone: Aneurysmal bone cysts
Bone: Aneurysmal bone cyst with t(1;17)(p34;p13) THRAP3/USP6

External links

	Nomenclature
HGNC (Hugo)	CASC3 17040
	Cards
Atlas	MLN51ID241
Entrez_Gene (NCBI)	CASC3 22794 cancer susceptibility 3
Aliases	BTZ; MLN51
GeneCards (Weizmann)	CASC3
Ensembl hg19 (Hinxton)	ENSG00000108349 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000108349 [Gene_View] chr17:40140254-40172178 [Contig_View] CASC3 [Vega]
ICGC DataPortal	ENSG00000108349
TCGA cBioPortal	CASC3
AceView (NCBI)	CASC3
Genatlas (Paris)	CASC3
WikiGenes	22794
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)
Ensembl	CASC3 - 17q21.1 [CytoView hg19] CASC3 - 17q21.1 [CytoView hg38]
Mapping of homologs : NCBI	CASC3 [Mapview hg19] CASC3 [Mapview hg38]
OMIM	606504
	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 : Unigene	Hs.743287 [ NCBI ]
CGAP (NCI)	Hs.743287
Alternative Splicing Gallery	ENSG00000108349
Gene Expression	CASC3 [ 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]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	22794
GTEX Portal (Tissue expression)	CASC3
Human Protein Atlas	ENSG00000108349-CASC3 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	O15234 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	O15234 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	O15234
Splice isoforms : SwissVar	O15234
PhosPhoSitePlus	O15234
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 mutations	22794
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 KnowledgeBase	2HYI 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
Superfamily	O15234
Human Protein Atlas [tissue]	ENSG00000108349-CASC3 [tissue]
Peptide Atlas	O15234
HPRD	16225
IPI	IPI00289491 IPI00909543
	Protein Interaction databases
DIP (DOE-UCLA)	O15234
IntAct (EBI)	O15234
FunCoup	ENSG00000108349
BioGRID	CASC3
STRING (EMBL)	CASC3
ZODIAC	CASC3
	Ontologies - Pathways
QuickGO	O15234
Ontology : AmiGO	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay mRNA splicing, via spliceosome RNA binding 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 nuclear speck enzyme binding intracellular ribonucleoprotein complex mRNA 3'-end processing ubiquitin protein ligase binding nuclear membrane exon-exon junction complex identical protein binding perinuclear region of cytoplasm
Ontology : EGO-EBI	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay mRNA splicing, via spliceosome RNA binding 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 nuclear speck enzyme binding intracellular ribonucleoprotein complex mRNA 3'-end processing ubiquitin protein ligase binding nuclear membrane exon-exon junction complex identical protein binding perinuclear region of cytoplasm
Pathways : KEGG	RNA transport mRNA surveillance pathway
REACTOME	O15234 [protein]
REACTOME Pathways	R-HSA-975957 [pathway]
NDEx Network	CASC3
Atlas of Cancer Signalling Network	CASC3
Wikipedia pathways	CASC3
	Orthology - Evolution
OrthoDB	22794
GeneTree (enSembl)	ENSG00000108349
Phylogenetic Trees/Animal Genes : TreeFam	CASC3
HOVERGEN	O15234
HOGENOM	O15234
Homologs : HomoloGene	CASC3
Homology/Alignments : Family Browser (UCSC)	CASC3
	Gene fusions - Rearrangements
Fusion : Mitelman	CASC3/MED1 [17q21.1/17q12]
Fusion : Mitelman	CASC3/ZNF254 [17q21.1/19p12] [t(17;19)(q21;p12)]
Fusion: TCGA	CASC3 17q21.1 MED1 17q12 BRCA
Fusion: TCGA	CASC3 17q21.1 ZNF254 19p12 BRCA
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	CASC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	CASC3
dbVar	CASC3
ClinVar	CASC3
1000_Genomes	CASC3
Exome Variant Server	CASC3
ExAC (Exome Aggregation Consortium)	ENSG00000108349
GNOMAD Browser	ENSG00000108349
Genetic variants : HAPMAP	22794
Genomic Variants (DGV)	CASC3 [DGVbeta]
DECIPHER	CASC3 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	CASC3
	Mutations
ICGC Data Portal	CASC3
TCGA Data Portal	CASC3
Broad Tumor Portal	CASC3
OASIS Portal	CASC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	CASC3 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	CASC3
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
BioMuta	search 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)
intoGen	CASC3
NCG5 (London)	CASC3
Cancer3D	CASC3(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	606504
Orphanet
Medgen	CASC3
Genetic Testing Registry	CASC3
NextProt	O15234 [Medical]
TSGene	22794
GENETests	CASC3
Target Validation	CASC3
Huge Navigator	CASC3 [HugePedia]
snp3D : Map Gene to Disease	22794
BioCentury BCIQ	CASC3
ClinGen	CASC3
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	22794
Chemical/Pharm GKB Gene	PA134948596
Clinical trial	CASC3
	Miscellaneous
canSAR (ICR)	CASC3 (select the gene name)
	Probes
	Litterature
PubMed	41 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	CASC3
EVEX	CASC3
GoPubMed	CASC3
iHOP	CASC3

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Thu Oct 12 16:27:42 CEST 2017

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