Free for academic non-profit institutions. Other users need a Commercial license

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. Diseases associated with BCAS4 include Duane-Radial Ray Syndrome. An important paralog of this gene is BLOC1S4.

Additional gene information for BCAS4 Gene

No data available for Entrez Gene Summary , CIViC 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
GH20H050757 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.5 -33.8 -33819 7.8 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 GATA2 FOS PARD6B BCAS4 ADNP ENSG00000232043 DPM1 RIPOR3 PIR40975
GH20H050721 2 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -59.7 -59709 27.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ADNP DPM1 ENSG00000232043 RIPOR3 MOCS3 PSMD10P1 PARD6B BCAS4 MIR645 PIR40975
GH20H050843 1.2 ENCODE dbSUPER 16.6 +49.9 49854 3.3 HDGF SIN3A ZNF2 GLIS2 ZNF143 ATF7 FOS RUNX3 DEK JUNB BCAS4 ADNP DPM1 TMSB4XP6 PIR61506
GH20H050913 1.1 Ensembl ENCODE 17.2 +120.8 120775 4.2 HDAC1 HDGF PKNOX1 ATF1 YBX1 BATF EGR1 ZSCAN5C SCRT2 ZNF207 BCAS4 PSMD10P1 ADNP-AS1
- 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
ENSR00000138572 206 1401 MLX ARNT ARID4B SIN3A GTF3C2 GLIS2 ZNF207 ZNF143 ATF7 RUNX3

Genomic Locations for BCAS4 Gene

Genomic Locations for BCAS4 Gene
87,783 bases
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:
    Recommended name:
    Breast carcinoma-amplified sequence 4
    Protein Accession:
    Secondary Accessions:
    • Q5TD52
    • Q5TD53
    • Q5TD54
    • Q5U5K7
    • Q5XKE8
    • Q8IXI7
    • Q8NEZ6
    • Q8TDL9
    • Q9NX13
    • Q9Y511

    Protein attributes for BCAS4 Gene

    211 amino acids
    Molecular mass:
    22758 Da
    Quaternary structure:
    No Data Available
    • 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


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

Gene Families for BCAS4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BCAS4 Gene


Suggested Antigen Peptide Sequences for BCAS4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Function for BCAS4 Gene

Phenotypes From GWAS Catalog for BCAS4 Gene

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

Animal Model Products

CRISPR Products

miRNA for BCAS4 Gene

miRTarBase miRNAs that target BCAS4

Inhibitory RNA Products

Clone 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


Subcellular locations from

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

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

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

Drugs & Compounds for BCAS4 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

Relevant External Links for BCAS4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BCAS4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for BCAS4 Gene

Protein tissue co-expression partners for BCAS4 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCAS4 Gene:


SOURCE GeneReport for Unigene cluster for BCAS4 Gene:


mRNA Expression by UniProt/SwissProt for BCAS4 Gene:

Tissue specificity: Brain, thymus, spleen, kidney and placenta. Overexpressed in most breast cancer cell lines.

Evidence on tissue expression from TISSUES for BCAS4 Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with BCAS4: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia BCAS4 33 34
  • 99.67 (n)
(Bos Taurus)
Mammalia BCAS4 33 34
  • 85.8 (n)
(Canis familiaris)
Mammalia BCAS4 33 34
  • 84.11 (n)
(Ornithorhynchus anatinus)
Mammalia BCAS4 34
  • 45 (a)
(Monodelphis domestica)
Mammalia BCAS4 34
  • 43 (a)
(Anolis carolinensis)
Reptilia BCAS4 34
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490358 33
  • 56.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18159 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
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

Gene Tree for BCAS4 (if available)
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
rs1000045015 -- 50,866,676(+) CTGAA(C/G)GGACA intron-variant
rs1000045568 -- 50,835,642(+) TCCCC(A/G)TTCCT intron-variant
rs1000064301 -- 50,861,025(+) ATACG(C/T)TTGCA intron-variant
rs1000076899 -- 50,811,336(+) CTCTA(G/T)CCTGG intron-variant
rs1000100208 -- 50,849,974(+) AAAAT(-/TAAAAA)TAATA intron-variant

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

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

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

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

Disorders for BCAS4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BCAS4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
duane-radial ray syndrome
  • acrorenocular syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BCAS4 in MalaCards View complete list of genes associated with diseases


  • 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)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BCAS4: view

No data available for 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) Bärlund M … Kallioniemi A (Genes, chromosomes & cancer 2002) 2 3 4 22 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for BCAS4 Gene

Sources for BCAS4 Gene

Loading form....