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BCAS3 (breast carcinoma amplified sequence 3)

Written2004-05Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesbreast carcinoma amplified sequence 3
Alias_symbol (synonym)FLJ20128
Other aliasMAAB
GAOB1
HGNC (Hugo) BCAS3
LocusID (NCBI) 54828
Atlas_Id 766
Location 17q23.2  [Link to chromosome band 17q23]
Location_base_pair Starts at 60677811 and ends at 61392838 bp from pter ( according to hg19-Feb_2009)  [Mapping BCAS3.png]
Fusion genes
(updated 2016)		ABCA5 (17q24.3) / BCAS3 (17q23.2)B4GALT3 (1q23.3) / BCAS3 (17q23.2)BCAS3 (17q23.2) / ABCA8 (17q24.2)
BCAS3 (17q23.2) / APPBP2 (17q23.2)BCAS3 (17q23.2) / ARHGAP15 (2q22.2)BCAS3 (17q23.2) / ATXN7 (3p14.1)
BCAS3 (17q23.2) / AXIN2 (17q24.1)BCAS3 (17q23.2) / BCAS3 (17q23.2)BCAS3 (17q23.2) / BRIP1 (17q23.2)
BCAS3 (17q23.2) / CYTH1 (17q25.3)BCAS3 (17q23.2) / DISP1 (1q41)BCAS3 (17q23.2) / DPY19L2P1 (7p14.2)
BCAS3 (17q23.2) / GH2 (17q23.3)BCAS3 (17q23.2) / GIT1 (17q11.2)BCAS3 (17q23.2) / GOLPH3L (1q21.3)
BCAS3 (17q23.2) / GRIK2 (6q16.3)BCAS3 (17q23.2) / HOXB9 (17q21.32)BCAS3 (17q23.2) / KAT7 (17q21.33)
BCAS3 (17q23.2) / MAP3K3 (17q23.3)BCAS3 (17q23.2) / MARCH10 (17q23.2)BCAS3 (17q23.2) / MED13 (17q23.2)
BCAS3 (17q23.2) / NFS1 (20q11.22)BCAS3 (17q23.2) / POLD4 (11q13.2)BCAS3 (17q23.2) / PRKAA2 (1p32.2)
BCAS3 (17q23.2) / RAD51C (17q22)BCAS3 (17q23.2) / REG4 (1p12)BCAS3 (17q23.2) / RNF169 (11q13.4)
BCAS3 (17q23.2) / RNFT1 (17q23.1)BCAS3 (17q23.2) / SMURF1 (7q22.1)BCAS3 (17q23.2) / TRBV20-1 ()
BCAS3 (17q23.2) / VMP1 (17q23.1)BCAS3 (17q23.2) / WIPI1 (17q24.2)BCAS3 (17q23.2) / XRRA1 (11q13.4)
BCAS4 (20q13.13) / BCAS3 (17q23.2)BPTF (17q24.2) / BCAS3 (17q23.2)FBXL20 (17q12) / BCAS3 (17q23.2)
GMDS (6p25.3) / BCAS3 (17q23.2)IKZF3 (17q12) / BCAS3 (17q23.2)MED13 (17q23.2) / BCAS3 (17q23.2)
NLK (17q11.2) / BCAS3 (17q23.2)PIGU (20q11.22) / BCAS3 (17q23.2)RAD51C (17q22) / BCAS3 (17q23.2)
SKAP1 (17q21.32) / BCAS3 (17q23.2)TAOK1 (17q11.2) / BCAS3 (17q23.2)TRBV20-1 () / BCAS3 (17q23.2)
USP32 (17q23.1) / BCAS3 (17q23.2)ZNF217 (20q13.2) / BCAS3 (17q23.2)

DNA/RNA

Description spans 715 kb; orientation direct strand; at least 77 exons
Transcription alternate splicings: 3.9 kb, 3.3 kb, 2.3 kb, 1.5 kb, 1.3 kb.

Protein

Expression ubiquitous
Localisation nuclear (potential)

Implicated in

Note
  
Entity BCAS3 is overexpressed in about 10% of breast cancers, and a hybrid gene BCAS4-BCAS3 was found in breat cancer cell line with a t(17;20)(q23;q13)
Hybrid/Mutated Gene 5' BCAS4 is fused to the 2 last exons (23 and 24) of BCAS3; transcript includes exon 1 from BCAS4 and 21 bp from BCAS3 exon 23; it encodes a 66 aminoacids protein; no reciprocal transcript
  

Bibliography

Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer.
Bärlund M, Monni O, Weaver JD, Kauraniemi P, Sauter G, Heiskanen M, Kallioniemi OP, Kallioniemi A
Genes, chromosomes & cancer. 2002 ; 35 (4) : 311-317.
PMID 12378525
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
BCAS3 (breast carcinoma amplified sequence 3)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):188-188.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BCAS3ID766.html

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Adenocarcinoma

External links

Nomenclature
HGNC (Hugo)BCAS3   14347
Cards
AtlasBCAS3ID766
Entrez_Gene (NCBI)BCAS3  54828  BCAS3, microtubule associated cell migration factor
AliasesGAOB1; MAAB
GeneCards (Weizmann)BCAS3
Ensembl hg19 (Hinxton)ENSG00000141376 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141376 [Gene_View]  chr17:60677811-61392838 [Contig_View]  BCAS3 [Vega]
ICGC DataPortalENSG00000141376
TCGA cBioPortalBCAS3
AceView (NCBI)BCAS3
Genatlas (Paris)BCAS3
WikiGenes54828
SOURCE (Princeton)BCAS3
Genetics Home Reference (NIH)BCAS3
Genomic and cartography
GoldenPath hg38 (UCSC)BCAS3  -     chr17:60677811-61392838 +  17q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCAS3  -     17q23.2   [Description]    (hg19-Feb_2009)
EnsemblBCAS3 - 17q23.2 [CytoView hg19]  BCAS3 - 17q23.2 [CytoView hg38]
Mapping of homologs : NCBIBCAS3 [Mapview hg19]  BCAS3 [Mapview hg38]
OMIM607470   
Gene and transcription
Genbank (Entrez)AF260268 AF361219 AJ511332 AJ518105 AJ518836
RefSeq transcript (Entrez)NM_001099432 NM_001320470 NM_001330413 NM_001330414 NM_017679
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCAS3
Cluster EST : UnigeneHs.655028 [ NCBI ]
CGAP (NCI)Hs.655028
Alternative Splicing GalleryENSG00000141376
Gene ExpressionBCAS3 [ NCBI-GEO ]   BCAS3 [ EBI - ARRAY_EXPRESS ]   BCAS3 [ SEEK ]   BCAS3 [ MEM ]
Gene Expression Viewer (FireBrowse)BCAS3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54828
GTEX Portal (Tissue expression)BCAS3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H6U6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H6U6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H6U6
Splice isoforms : SwissVarQ9H6U6
PhosPhoSitePlusQ9H6U6
Domains : Interpro (EBI)BCAS3    WD40/YVTN_repeat-like_dom    WD40_repeat_dom   
Domain families : Pfam (Sanger)BCAS3 (PF12490)   
Domain families : Pfam (NCBI)pfam12490   
Conserved Domain (NCBI)BCAS3
DMDM Disease mutations54828
Blocks (Seattle)BCAS3
SuperfamilyQ9H6U6
Human Protein AtlasENSG00000141376
Peptide AtlasQ9H6U6
HPRD06313
IPIIPI00332095   IPI00783452   IPI00411606   IPI00973013   IPI00902682   IPI00332097   IPI00902702   IPI00332098   IPI00909771   
Protein Interaction databases
DIP (DOE-UCLA)Q9H6U6
IntAct (EBI)Q9H6U6
FunCoupENSG00000141376
BioGRIDBCAS3
STRING (EMBL)BCAS3
ZODIACBCAS3
Ontologies - Pathways
QuickGOQ9H6U6
Ontology : AmiGOangiogenesis  chromatin binding  protein binding  nucleus  nucleolus  cytoplasm  cytoplasmic microtubule  transcription, DNA-templated  Golgi organization  transcription factor binding  positive regulation of endothelial cell migration  acetyltransferase activator activity  vesicle-mediated transport  microtubule organizing center organization  cell leading edge  negative regulation of GTPase activity  histone acetyltransferase binding  tube formation  nuclear hormone receptor binding  transcriptionally active chromatin  histone binding  response to starvation  positive regulation of catalytic activity  positive regulation of GTPase activity  intermediate filament cytoskeleton  positive regulation of transcription from RNA polymerase II promoter  beta-tubulin binding  positive regulation of filopodium assembly  negative regulation of focal adhesion assembly  cellular response to estrogen stimulus  cell periphery  positive regulation of intracellular protein transport  activation of GTPase activity  regulation of establishment of cell polarity  positive regulation of actin cytoskeleton reorganization  
Ontology : EGO-EBIangiogenesis  chromatin binding  protein binding  nucleus  nucleolus  cytoplasm  cytoplasmic microtubule  transcription, DNA-templated  Golgi organization  transcription factor binding  positive regulation of endothelial cell migration  acetyltransferase activator activity  vesicle-mediated transport  microtubule organizing center organization  cell leading edge  negative regulation of GTPase activity  histone acetyltransferase binding  tube formation  nuclear hormone receptor binding  transcriptionally active chromatin  histone binding  response to starvation  positive regulation of catalytic activity  positive regulation of GTPase activity  intermediate filament cytoskeleton  positive regulation of transcription from RNA polymerase II promoter  beta-tubulin binding  positive regulation of filopodium assembly  negative regulation of focal adhesion assembly  cellular response to estrogen stimulus  cell periphery  positive regulation of intracellular protein transport  activation of GTPase activity  regulation of establishment of cell polarity  positive regulation of actin cytoskeleton reorganization  
NDEx NetworkBCAS3
Atlas of Cancer Signalling NetworkBCAS3
Wikipedia pathwaysBCAS3
Orthology - Evolution
OrthoDB54828
GeneTree (enSembl)ENSG00000141376
Phylogenetic Trees/Animal Genes : TreeFamBCAS3
HOVERGENQ9H6U6
HOGENOMQ9H6U6
Homologs : HomoloGeneBCAS3
Homology/Alignments : Family Browser (UCSC)BCAS3
Gene fusions - Rearrangements
Fusion : MitelmanABCA5/BCAS3 [17q24.3/17q23.2]  [t(17;17)(q23;q24)]  
Fusion : MitelmanB4GALT3/BCAS3 [1q23.3/17q23.2]  [t(1;17)(q23;q23)]  
Fusion : MitelmanBCAS3/ABCA8 [17q23.2/17q24.2]  [t(17;17)(q23;q24)]  
Fusion : MitelmanBCAS3/APPBP2 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanBCAS3/ARHGAP15 [17q23.2/2q22.2]  [t(2;17)(q22;q23)]  
Fusion : MitelmanBCAS3/ATXN7 [17q23.2/3p14.1]  [t(3;17)(p14;q23)]  
Fusion : MitelmanBCAS3/AXIN2 [17q23.2/17q24.1]  [t(17;17)(q23;q24)]  
Fusion : MitelmanBCAS3/BRIP1 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanBCAS3/CYTH1 [17q23.2/17q25.3]  [t(17;17)(q23;q25)]  
Fusion : MitelmanBCAS3/DISP1 [17q23.2/1q41]  [t(1;17)(q41;q23)]  
Fusion : MitelmanBCAS3/GH2 [17q23.2/17q23.3]  [t(17;17)(q23;q23)]  
Fusion : MitelmanBCAS3/GIT1 [17q23.2/17q11.2]  [t(17;17)(q11;q23)]  
Fusion : MitelmanBCAS3/GRIK2 [17q23.2/6q16.3]  [t(6;17)(q16;q23)]  
Fusion : MitelmanBCAS3/HOXB9 [17q23.2/17q21.32]  [t(17;17)(q21;q23)]  
Fusion : MitelmanBCAS3/KAT7 [17q23.2/17q21.33]  [t(17;17)(q21;q23)]  
Fusion : MitelmanBCAS3/MAP3K3 [17q23.2/17q23.3]  [t(17;17)(q23;q23)]  
Fusion : MitelmanBCAS3/MARCH10 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanBCAS3/MED13 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanBCAS3/NFS1 [17q23.2/20q11.22]  [t(17;20)(q23;q11)]  
Fusion : MitelmanBCAS3/POLD4 [17q23.2/11q13.2]  [t(11;17)(q13;q23)]  
Fusion : MitelmanBCAS3/PRKAA2 [17q23.2/1p32.2]  [t(1;17)(p32;q23)]  
Fusion : MitelmanBCAS3/RAD51C [17q23.2/17q22]  [t(17;17)(q22;q23)]  
Fusion : MitelmanBCAS3/RNF169 [17q23.2/11q13.4]  [t(11;17)(q13;q23)]  
Fusion : MitelmanBCAS3/RNFT1 [17q23.2/17q23.1]  [t(17;17)(q23;q23)]  
Fusion : MitelmanBCAS3/VMP1 [17q23.2/17q23.1]  [t(17;17)(q23;q23)]  
Fusion : MitelmanBCAS3/WIPI1 [17q23.2/17q24.2]  [t(17;17)(q23;q24)]  
Fusion : MitelmanBCAS3/XRRA1 [17q23.2/11q13.4]  [t(11;17)(q13;q23)]  
Fusion : MitelmanBCAS4/BCAS3 [20q13.13/17q23.2]  [t(17;20)(q23;q13)]  
Fusion : MitelmanBPTF/BCAS3 [17q24.2/17q23.2]  [t(17;17)(q23;q24)]  
Fusion : MitelmanGMDS/BCAS3 [6p25.3/17q23.2]  [t(6;17)(p25;q23)]  
Fusion : MitelmanIKZF3/BCAS3 [17q12/17q23.2]  [t(17;17)(q12;q23)]  
Fusion : MitelmanMED13/BCAS3 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanNLK/BCAS3 [17q11.2/17q23.2]  [t(17;17)(q11;q23)]  
Fusion : MitelmanPIGU/BCAS3 [20q11.22/17q23.2]  [t(17;20)(q23;q11)]  
Fusion : MitelmanRAD51C/BCAS3 [17q22/17q23.2]  [t(17;17)(q22;q23)]  
Fusion : MitelmanSKAP1/BCAS3 [17q21.32/17q23.2]  [t(17;17)(q21;q23)]  
Fusion : MitelmanTAOK1/BCAS3 [17q11.2/17q23.2]  [t(17;17)(q11;q23)]  
Fusion : MitelmanUSP32/BCAS3 [17q23.1/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanZNF217/BCAS3 [20q13.2/17q23.2]  [t(17;20)(q23;q13)]  
Fusion: TCGAABCA5 17q24.3 BCAS3 17q23.2 BRCA
Fusion: TCGAB4GALT3 1q23.3 BCAS3 17q23.2 LUAD
Fusion: TCGABCAS3 17q23.2 ABCA8 17q24.2 BRCA
Fusion: TCGABCAS3 17q23.2 APPBP2 17q23.2 BRCA
Fusion: TCGABCAS3 17q23.2 AXIN2 17q24.1 BRCA
Fusion: TCGABCAS3 17q23.2 BRIP1 17q23.2 BRCA
Fusion: TCGABCAS3 17q23.2 CYTH1 17q25.3 BRCA
Fusion: TCGABCAS3 17q23.2 DISP1 1q41 BRCA
Fusion: TCGABCAS3 17q23.2 GH2 17q23.3 BRCA
Fusion: TCGABCAS3 17q23.2 GIT1 17q11.2 LUAD
Fusion: TCGABCAS3 17q23.2 GRIK2 6q16.3 BRCA
Fusion: TCGABCAS3 17q23.2 KAT7 17q21.33 BRCA
Fusion: TCGABCAS3 17q23.2 MARCH10 17q23.2 LUSC
Fusion: TCGABCAS3 17q23.2 NFS1 20q11.22 BRCA
Fusion: TCGABCAS3 17q23.2 POLD4 11q13.2 BRCA
Fusion: TCGABCAS3 17q23.2 PRKAA2 1p32.2 BRCA
Fusion: TCGABCAS3 17q23.2 RAD51C 17q22 BRCA
Fusion: TCGABCAS3 17q23.2 RNF169 11q13.4 BRCA
Fusion: TCGABCAS3 17q23.2 RNFT1 17q23.1 LGG
Fusion: TCGABCAS3 17q23.2 VMP1 17q23.1 BRCA
Fusion: TCGABCAS3 17q23.2 WIPI1 17q24.2 BRCA
Fusion: TCGABPTF 17q24.2 BCAS3 17q23.2 LUAD
Fusion: TCGAGMDS 6p25.3 BCAS3 17q23.2 PRAD
Fusion: TCGAIKZF3 17q12 BCAS3 17q23.2 BRCA
Fusion: TCGANLK 17q11.2 BCAS3 17q23.2 BRCA
Fusion: TCGAPIGU 20q11.22 BCAS3 17q23.2 BRCA
Fusion: TCGASKAP1 17q21.32 BCAS3 17q23.2 BRCA
Fusion: TCGATAOK1 17q11.2 BCAS3 17q23.2 LUAD
Fusion: TCGAUSP32 17q23.1 BCAS3 17q23.2 BRCA
Fusion: TCGAZNF217 20q13.2 BCAS3 17q23.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCAS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCAS3
dbVarBCAS3
ClinVarBCAS3
1000_GenomesBCAS3 
Exome Variant ServerBCAS3
ExAC (Exome Aggregation Consortium)BCAS3 (select the gene name)
Genetic variants : HAPMAP54828
Genomic Variants (DGV)BCAS3 [DGVbeta]
DECIPHERBCAS3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCAS3 
Mutations
ICGC Data PortalBCAS3 
TCGA Data PortalBCAS3 
Broad Tumor PortalBCAS3
OASIS PortalBCAS3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCAS3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCAS3
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 BCAS3
DgiDB (Drug Gene Interaction Database)BCAS3
DoCM (Curated mutations)BCAS3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCAS3 (select a term)
intoGenBCAS3
NCG5 (London)BCAS3
Cancer3DBCAS3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607470   
Orphanet
MedgenBCAS3
Genetic Testing Registry BCAS3
NextProtQ9H6U6 [Medical]
TSGene54828
GENETestsBCAS3
Target ValidationBCAS3
Huge Navigator BCAS3 [HugePedia]
snp3D : Map Gene to Disease54828
BioCentury BCIQBCAS3
ClinGenBCAS3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54828
Chemical/Pharm GKB GenePA25286
Clinical trialBCAS3
Miscellaneous
canSAR (ICR)BCAS3 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCAS3
EVEXBCAS3
GoPubMedBCAS3
iHOPBCAS3
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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