Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BCAS4 (breast carcinoma amplified sequence 4)

Identity

Other namesBHLHB4
FLJ20495
HGNC (Hugo) BCAS4
Location 20q13
Location_base_pair Starts at 48844874 and ends at 48927121 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description spans 82 kb; orientation direct strand; 19 exons
Transcription alternate splicings

Protein

Expression ubiquitous
Localisation cytoplasmic

Implicated in

Entity BCAS4 is overexpressed in 3.5% 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
  

External links

Nomenclature
HGNC (Hugo)BCAS4   14367
Entrez_Gene (NCBI)BCAS4  55653  breast carcinoma amplified sequence 4
Cards
AtlasBCAS4ID767
GeneCards (Weizmann)BCAS4
Ensembl (Hinxton)ENSG00000124243 [Gene_View]  BCAS4 [Vega]
AceView (NCBI)BCAS4
Genatlas (Paris)BCAS4
euGene (Indiana)55653
SOURCE (Stanford)NM_001010974 NM_017843 NM_198799
Genomic and cartography
GoldenPath (UCSC)BCAS4  -  20q13   chr20:48844874-48927121 +  20q13   [Description]    (hg18-Mar_2006)
EnsemblBCAS4 - 20q13 [CytoView]
Mapping of homologs : NCBIBCAS4 [Mapview]
OMIM607471   
Gene and transcription
Gene : Genbank (Entrez)AF361220 AJ511266 AK000502 BC038381 BC047337
Reference sequence (RefSeq transcript) :SRSNM_001010974 NM_017843 NM_198799
Reference transcript : EntrezNM_001010974 NM_017843 NM_198799
RefSeq genomic : SRSAC_000063 AC_000152 NC_000020 NT_011362 NW_001838666 NW_927339
RefSeq genomic : EntrezAC_000063 AC_000152 NC_000020 NT_011362 NW_001838666 NW_927339
Consensus coding sequences : CCDS NCBIBCAS4
Cluster EST : UnigeneHs.708239 [ SRS ] Hs.708239 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13476
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ8TDM0 (SRS) Q8TDM0 (Expasy) Q8TDM0 (Uniprot)
With graphics : InterProQ8TDM0
Splice isoforms : VarSplice FASTAQ8TDM0(VarSplice FASTA)
Related proteins : CluSTrQ8TDM0
Domain families : Pfam SRS
Domain families : Pfam Sanger
Domain families : Pfam NCBI
Blocks (Seattle)Q8TDM0
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD06314
Protein Interaction databases
DIP (DOE-UCLA)Q8TDM0
IntAct (EBI)Q8TDM0
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIBCAS4
SNP : GeneSNP UtahBCAS4
SNP : HGBaseBCAS4
Genetic variants : HAPMAPBCAS4
Somatic Mutations in Cancer : COSMICBCAS4 
Mutations and Diseases : HGMDBCAS4
Hereditary diseases : OMIM607471   
Hereditary diseases : GENETests607471   
Diseases : Genetic AssociationBCAS4
General knowledge
Homologs : HomoloGeneBCAS4
Homology/Alignments : Family Browser UCSCBCAS4
Phylogenetic Trees/Animal Genes : TreeFamBCAS4
Chemical/Protein Interactions : CTD55653
Keywords Ontology : AmiGOcytoplasm  
Keywords Ontology : EGO-EBIcytoplasm  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesBCAS4 Related clones (RZPD - Berlin)
Literature
PubMed6 Pubmed reference(s) in Entrez
PubGeneBCAS4

Bibliography

p73 Induces apoptosis via PUMA transactivation and Bax mitochondrial translocation.
Melino G, Bernassola F, Ranalli M, Yee K, Zong WX, Corazzari M, Knight RA, Green DR, Thompson C, Vousden KH
The Journal of biological chemistry. 2004 ; 279 (9) : 8076-8083.
PMID 14634023
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written05-2004Jean-Loup Huret, Sylvie Senon

Citation

This paper should be referenced as such :
Huret JL, Senon S . BCAS4 (breast carcinoma amplified sequence 4). Atlas Genet Cytogenet Oncol Haematol. May 2004 .
URL : http://AtlasGeneticsOncology.org/Genes/BCAS4ID767.html

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indexed on : Sat Jun 27 16:42:14 CEST 2009
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