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Aliases for BCAS2 Gene

Aliases for BCAS2 Gene

  • BCAS2, Pre-MRNA Processing Factor 2 3 5
  • DNA Amplified In Mammary Carcinoma 1 Protein 3 4
  • Spliceosome-Associated Protein SPF 27 3 4
  • Breast Carcinoma Amplified Sequence 2 2 3
  • DAM1 3 4
  • Spliceosome Associated Protein, Amplified In Breast Cancer 3
  • Breast Carcinoma-Amplified Sequence 2 4
  • DNA Amplified In Mammary Carcinoma 1 2
  • Pre-MRNA-Splicing Factor SPF27 3
  • Snt309 3
  • SPF27 3

External Ids for BCAS2 Gene

Previous GeneCards Identifiers for BCAS2 Gene

  • GC01M115523
  • GC01M113992
  • GC01M114210
  • GC01M114408
  • GC01M114822
  • GC01M115110
  • GC01M112968

Summaries for BCAS2 Gene

GeneCards Summary for BCAS2 Gene

BCAS2 (BCAS2, Pre-MRNA Processing Factor) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression.

UniProtKB/Swiss-Prot for BCAS2 Gene

  • Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR).

Gene Wiki entry for BCAS2 Gene

Additional gene information for BCAS2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCAS2 Gene

Genomics for BCAS2 Gene

GeneHancer (GH) Regulatory Elements for BCAS2 Gene

Promoters and enhancers for BCAS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J114580 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.1 98 2.4 PKNOX1 FOXA2 ARNT ARID4B DMAP1 ZNF2 YY1 POLR2B ZNF766 CBX5 LOC105378914 BCAS2 TRIM33 AMPD1 DENND2C RSBN1 LOC105378913
GH01J115061 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.9 -481.3 -481270 2.3 ZNF146 MXI1 JUN MAX EBF1 RFX5 ZKSCAN1 GATA3 POLR2A RCOR1 TSPAN2 TSHB AMPD1 BCAS2 SIKE1
GH01J114550 Enhancer 0.3 ENCODE 11.4 +31.1 31099 0.2 GATA3 BCAS2 TRIM33 DENND2C OLFML3 LOC105378913
GH01J114508 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.3 +70.6 70554 4.2 YBX1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 MEF2D ZNF610 GLIS1 TRIM33 RSBN1 SIKE1 AP4B1 OLFML3 TSHB BCAS2 ENSG00000201114
GH01J114481 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +99.0 99032 1.7 CC2D1A PKNOX1 POLR2A ELF1 ETV6 CHAMP1 SPI1 TRIM33 BCAS2 GC01P114491 EIF2S2P5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCAS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCAS2 gene promoter:
  • Olf-1
  • En-1
  • NRSF form 2
  • NRSF form 1
  • COMP1
  • Pax-4a
  • Sox5
  • GATA-2
  • NF-E2
  • NF-E2 p45

Genomic Locations for BCAS2 Gene

Genomic Locations for BCAS2 Gene
chr1:114,567,557-114,581,644
(GRCh38/hg38)
Size:
14,088 bases
Orientation:
Minus strand
chr1:115,110,178-115,124,265
(GRCh37/hg19)
Size:
14,088 bases
Orientation:
Minus strand

Genomic View for BCAS2 Gene

Genes around BCAS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCAS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCAS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAS2 Gene

Proteins for BCAS2 Gene

  • Protein details for BCAS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75934-SPF27_HUMAN
    Recommended name:
    Pre-mRNA-splicing factor SPF27
    Protein Accession:
    O75934
    Secondary Accessions:
    • Q6FGS0

    Protein attributes for BCAS2 Gene

    Size:
    225 amino acids
    Molecular mass:
    26131 Da
    Quaternary structure:
    • Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts directly in the complex with PRPF19, CDC5L and PLRG1.

    Three dimensional structures from OCA and Proteopedia for BCAS2 Gene

neXtProt entry for BCAS2 Gene

Post-translational modifications for BCAS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCAS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BCAS2 Gene

Domains & Families for BCAS2 Gene

Gene Families for BCAS2 Gene

Protein Domains for BCAS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCAS2 Gene

Graphical View of Domain Structure for InterPro Entry

O75934

UniProtKB/Swiss-Prot:

SPF27_HUMAN :
  • Belongs to the SPF27 family.
Family:
  • Belongs to the SPF27 family.
genes like me logo Genes that share domains with BCAS2: view

Function for BCAS2 Gene

Molecular function for BCAS2 Gene

UniProtKB/Swiss-Prot Function:
Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR).
GENATLAS Biochemistry:
breast carcinoma amplified sequence 2,possible homolog of C elegans T12A2.7 protein,spliceosome associated protein

Phenotypes From GWAS Catalog for BCAS2 Gene

Gene Ontology (GO) - Molecular Function for BCAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20176811
genes like me logo Genes that share ontologies with BCAS2: view
genes like me logo Genes that share phenotypes with BCAS2: view

Animal Models for BCAS2 Gene

MGI Knock Outs for BCAS2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCAS2 Gene

Localization for BCAS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAS2 Gene

Nucleus, nucleolus.

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 BCAS2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000974 Prp19 complex IBA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005662 colocalizes_with DNA replication factor A complex IDA 24332808
GO:0005681 spliceosomal complex IDA 12169396
genes like me logo Genes that share ontologies with BCAS2: view

Pathways & Interactions for BCAS2 Gene

genes like me logo Genes that share pathways with BCAS2: view

Pathways by source for BCAS2 Gene

Gene Ontology (GO) - Biological Process for BCAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000375 RNA splicing, via transesterification reactions TAS 9731529
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing TAS 9731529
genes like me logo Genes that share ontologies with BCAS2: view

No data available for SIGNOR curated interactions for BCAS2 Gene

Drugs & Compounds for BCAS2 Gene

No Compound Related Data Available

Transcripts for BCAS2 Gene

mRNA/cDNA for BCAS2 Gene

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

Unigene Clusters for BCAS2 Gene

Breast carcinoma amplified sequence 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCAS2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1: -
SP2:
SP3: -
SP4: - -
SP5: -

Relevant External Links for BCAS2 Gene

GeneLoc Exon Structure for
BCAS2
ECgene alternative splicing isoforms for
BCAS2

Expression for BCAS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCAS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCAS2 Gene

This gene is overexpressed in Plasma (21.8) and Peripheral blood mononuclear cells (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCAS2 Gene



Protein tissue co-expression partners for BCAS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BCAS2 Gene:

BCAS2

SOURCE GeneReport for Unigene cluster for BCAS2 Gene:

Hs.22960

mRNA Expression by UniProt/SwissProt for BCAS2 Gene:

O75934-SPF27_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for BCAS2 Gene

  • Nervous system(4.9)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with BCAS2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCAS2 Gene

Orthologs for BCAS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCAS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCAS2 34 33
  • 99.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCAS2 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 34
  • 97 (a)
OneToMany
BCAS2 34 33
  • 92.3 (n)
OneToMany
dog
(Canis familiaris)
Mammalia BCAS2 34 33
  • 92.89 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCAS2 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcas2 16 34 33
  • 89.04 (n)
rat
(Rattus norvegicus)
Mammalia Bcas2 33
  • 88.74 (n)
chicken
(Gallus gallus)
Aves BCAS2 34 33
  • 76.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAS2 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcas2 33
  • 74.55 (n)
MGC75758 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25686 33
zebrafish
(Danio rerio)
Actinopterygii bcas2 34 33 33
  • 73.33 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002305 33
  • 59.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4980 34 35 33
  • 56.63 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T12A2.7 34 35 33
  • 50.41 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons MOS4 33
  • 44.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9332 34
  • 66 (a)
OneToOne
Cin.4859 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4859 33
Species where no ortholog for BCAS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCAS2 Gene

ENSEMBL:
Gene Tree for BCAS2 (if available)
TreeFam:
Gene Tree for BCAS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCAS2: view image

Paralogs for BCAS2 Gene

Pseudogenes.org Pseudogenes for BCAS2 Gene

genes like me logo Genes that share paralogs with BCAS2: view

No data available for Paralogs for BCAS2 Gene

Variants for BCAS2 Gene

Sequence variations from dbSNP and Humsavar for BCAS2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_035799 A colorectal cancer sample p.Asn139Ser
rs1000381645 -- 114,569,327(-) A/T intron_variant
rs1000434052 -- 114,576,167(-) C/T intron_variant
rs1000716846 -- 114,567,552(-) T/A/C downstream_transcript_variant
rs1000880138 -- 114,568,627(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BCAS2 Gene

Variant ID Type Subtype PubMed ID
esv28734 CNV loss 19812545
nsv831104 CNV loss 17160897

Variation tolerance for BCAS2 Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCAS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCAS2 Gene

Disorders for BCAS2 Gene

Additional Disease Information for BCAS2

No disorders were found for BCAS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BCAS2 Gene

Publications for BCAS2 Gene

  1. Identification of a novel gene, DAM1, amplified at chromosome 1p13.3-21 region in human breast cancer cell lines. (PMID: 10403562) Nagasaki K … Yamaguchi K (Cancer letters 1999) 2 3 4 58
  2. Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex. (PMID: 9731529) Neubauer G … Mann M (Nature genetics 1998) 2 3 4 58
  3. PRP19 transforms into a sensor of RPA-ssDNA after DNA damage and drives ATR activation via a ubiquitin-mediated circuitry. (PMID: 24332808) Maréchal A … Zou L (Molecular cell 2014) 3 4 58
  4. Molecular architecture of the human Prp19/CDC5L complex. (PMID: 20176811) Grote M … Lührmann R (Molecular and cellular biology 2010) 3 4 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for BCAS2 Gene

Sources for BCAS2 Gene

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