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Aliases for BCAS4 Gene

Aliases for BCAS4 Gene

  • Breast Carcinoma Amplified Sequence 4 2 3 5
  • Breast Carcinoma Amplified Sequence 4/3 Fusion Protein 3
  • Breast Carcinoma-Amplified Sequence 4 3
  • BCAS4/BCAS3 Fusion 3
  • CNOL 3

External Ids for BCAS4 Gene

Previous GeneCards Identifiers for BCAS4 Gene

  • GC20P049139
  • GC20P050049
  • GC20P050096
  • GC20P048844
  • GC20P049411
  • GC20P046159

Summaries for BCAS4 Gene

GeneCards Summary for BCAS4 Gene

BCAS4 (Breast Carcinoma Amplified Sequence 4) is a Protein Coding gene. An important paralog of this gene is BLOC1S4.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCAS4 Gene

Genomics for BCAS4 Gene

Regulatory Elements for BCAS4 Gene

Enhancers for BCAS4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F050813 1.7 FANTOM5 Ensembl ENCODE 20 +22.0 21963 6.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 BCAS4 ADNP DPM1 ENSG00000232043 PSMD10P1 TMSB4XP6
GH20F050757 1.6 FANTOM5 Ensembl ENCODE 14.4 -33.8 -33819 7.8 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF121 GATA2 FOS ZNF263 PARD6B BCAS4 FAM65C DPM1 PIR40975
GH20F050843 1.2 Ensembl ENCODE 16.6 +49.9 49854 3.3 HDGF WRNIP1 SIN3A ZNF2 YY1 GLIS2 ZNF143 FOS JUNB TBX21 BCAS4 ADNP DPM1 TMSB4XP6 PIR61506
GH20F050913 1.1 Ensembl ENCODE 17.2 +120.8 120789 4.2 PKNOX1 ATF1 SIN3A YBX1 ZNF2 RAD21 SCRT2 ZNF143 ZNF207 ZNF654 BCAS4 PSMD10P1 ADNP-AS1
GH20F050721 1.8 FANTOM5 Ensembl ENCODE 10.3 -59.7 -59709 27.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D DPM1 FAM65C PTPN1 PARD6B BCAS4 MIR645 ENSG00000232043 MOCS3 PIR40975
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCAS4 on UCSC Golden Path with GeneCards custom track

Promoters for BCAS4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120008 306 2001 HDGF MLX ARID4B SIN3A ZNF48 GTF3C2 ZNF766 GLIS2 ZNF143 SP3

Genomic Location for BCAS4 Gene

Chromosome:
20
Start:
50,794,894 bp from pter
End:
50,882,676 bp from pter
Size:
87,783 bases
Orientation:
Plus strand

Genomic View for BCAS4 Gene

Genes around BCAS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCAS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCAS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAS4 Gene

Proteins for BCAS4 Gene

  • Protein details for BCAS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDM0-BCAS4_HUMAN
    Recommended name:
    Breast carcinoma-amplified sequence 4
    Protein Accession:
    Q8TDM0
    Secondary Accessions:
    • Q5TD52
    • Q5TD53
    • Q5TD54
    • Q5U5K7
    • Q5XKE8
    • Q8IXI7
    • Q8NEZ6
    • Q8TDL9
    • Q9NX13
    • Q9Y511

    Protein attributes for BCAS4 Gene

    Size:
    211 amino acids
    Molecular mass:
    22758 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH38381.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91209.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD53579.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for BCAS4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCAS4 Gene

Post-translational modifications for BCAS4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BCAS4 Gene

Domains & Families for BCAS4 Gene

Protein Domains for BCAS4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCAS4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDM0

UniProtKB/Swiss-Prot:

BCAS4_HUMAN :
  • Belongs to the cappuccino family.
Family:
  • Belongs to the cappuccino family.
genes like me logo Genes that share domains with BCAS4: view

No data available for Gene Families for BCAS4 Gene

Function for BCAS4 Gene

genes like me logo Genes that share phenotypes with BCAS4: view

Animal Model Products

miRNA for BCAS4 Gene

miRTarBase miRNAs that target BCAS4

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BCAS4 Gene

Localization for BCAS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAS4 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCAS4 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for BCAS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031083 BLOC-1 complex IBA --
genes like me logo Genes that share ontologies with BCAS4: view

Pathways & Interactions for BCAS4 Gene

SuperPathways for BCAS4 Gene

No Data Available

Interacting Proteins for BCAS4 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000351642%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000351642 Q8TDM0-BCAS4_HUMAN for BCAS4 Gene via STRING IID

Gene Ontology (GO) - Biological Process for BCAS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046907 intracellular transport IBA --
genes like me logo Genes that share ontologies with BCAS4: view

No data available for Pathways by source and SIGNOR curated interactions for BCAS4 Gene

Transcripts for BCAS4 Gene

mRNA/cDNA for BCAS4 Gene

(6) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BCAS4 Gene

Breast carcinoma amplified sequence 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCAS4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1:
SP2: -
SP3: - -

Relevant External Links for BCAS4 Gene

GeneLoc Exon Structure for
BCAS4
ECgene alternative splicing isoforms for
BCAS4

Expression for BCAS4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCAS4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCAS4 Gene

This gene is overexpressed in Blymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCAS4 Gene



Protein tissue co-expression partners for BCAS4 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCAS4 Gene:

BCAS4

SOURCE GeneReport for Unigene cluster for BCAS4 Gene:

Hs.381178

mRNA Expression by UniProt/SwissProt for BCAS4 Gene:

Q8TDM0-BCAS4_HUMAN
Tissue specificity: Brain, thymus, spleen, kidney and placenta. Overexpressed in most breast cancer cell lines.
genes like me logo Genes that share expression patterns with BCAS4: view

Primer Products

No data available for mRNA differential expression in normal tissues for BCAS4 Gene

Orthologs for BCAS4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCAS4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCAS4 34 35
  • 99.67 (n)
cow
(Bos Taurus)
Mammalia BCAS4 34 35
  • 85.8 (n)
dog
(Canis familiaris)
Mammalia BCAS4 34 35
  • 84.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCAS4 35
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCAS4 35
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAS4 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490358 34
  • 56.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18159 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
OneToMany
Species where no ortholog for BCAS4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BCAS4 Gene

ENSEMBL:
Gene Tree for BCAS4 (if available)
TreeFam:
Gene Tree for BCAS4 (if available)

Paralogs for BCAS4 Gene

Paralogs for BCAS4 Gene

(2) SIMAP similar genes for BCAS4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BCAS4: view

Variants for BCAS4 Gene

Sequence variations from dbSNP and Humsavar for BCAS4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1040490 -- 50,825,941(-) GGGAA(C/T)AAAGA intron-variant
rs10427423 -- 50,812,946(+) aagta(G/T)ctggg intron-variant
rs10626125 -- 50,862,563(+) CCAGA(-/CCTC)CCTCC intron-variant
rs10710080 -- 50,842,503(+) CCTTT(-/G)GCCTC intron-variant
rs11086317 -- 50,862,046(+) tacta(A/G)acaca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCAS4 Gene

Variant ID Type Subtype PubMed ID
esv1413515 CNV insertion 17803354
esv2722504 CNV deletion 23290073
esv996532 CNV insertion 20482838
nsv1109381 CNV deletion 24896259
nsv1136549 CNV deletion 24896259
nsv513548 CNV insertion 21212237
nsv518896 CNV loss 19592680
nsv586178 CNV loss 21841781
nsv586179 CNV loss 21841781
nsv834001 CNV loss 17160897
nsv834002 CNV loss 17160897
nsv962589 CNV duplication 23825009

Variation tolerance for BCAS4 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.18; 75.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCAS4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAS4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCAS4 Gene

Disorders for BCAS4 Gene

UniProtKB/Swiss-Prot

BCAS4_HUMAN
  • Note=A chromosomal aberration involving BCAS4 has been found in some breast carcinoma cell lines. Translocation t(17;20)(q23;q13) with BCAS3.

Relevant External Links for BCAS4

Genetic Association Database (GAD)
BCAS4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCAS4

No disorders were found for BCAS4 Gene.

No data available for MalaCards and Genatlas for BCAS4 Gene

Publications for BCAS4 Gene

  1. Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer. (PMID: 12378525) Baerlund M. … Kallioniemi A. (Genes Chromosomes Cancer 2002) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for BCAS4 Gene

Sources for BCAS4 Gene

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