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    BCAS2 BCAS2 pre-mRNA processing factor [ Homo sapiens (human) ]

    Gene ID: 10286, updated on 7-Apr-2024

    Summary

    Official Symbol
    BCAS2provided by HGNC
    Official Full Name
    BCAS2 pre-mRNA processing factorprovided by HGNC
    Primary source
    HGNC:HGNC:975
    See related
    Ensembl:ENSG00000116752 MIM:605783; AllianceGenome:HGNC:975
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAM1; SPF27; Snt309
    Summary
    Involved in mRNA splicing, via spliceosome. Located in centrosome and nuclear speck. Part of U2-type catalytic step 2 spliceosome. Colocalizes with DNA replication factor A complex. Implicated in breast cancer. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 27.2), brain (RPKM 25.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BCAS2 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (114567557..114581615, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (114579016..114593070, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (115110178..115124236, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:115055021-115055783 Neighboring gene pyruvate kinase M1/2 pseudogene 1 Neighboring gene uncharacterized LOC105378914 Neighboring gene DENN domain containing 2C Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:115142450-115143649 Neighboring gene MPRA-validated peak379 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1547 Neighboring gene uncharacterized LOC124904354

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of DNA replication factor A complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Prp19 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Prp19 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of U2-type catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of spliceosomal complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    pre-mRNA-splicing factor SPF27
    Names
    DNA amplified in mammary carcinoma 1 protein
    breast carcinoma amplified sequence 2
    spliceosome associated protein, amplified in breast cancer
    spliceosome-associated protein SPF 27

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005872.3NP_005863.1  pre-mRNA-splicing factor SPF27

      See identical proteins and their annotated locations for NP_005863.1

      Status: VALIDATED

      Source sequence(s)
      BC022880, BC039238, BF184377
      Consensus CDS
      CCDS874.1
      UniProtKB/Swiss-Prot
      O75934, Q6FGS0
      UniProtKB/TrEMBL
      B2R7W3, Q53HE3
      Related
      ENSP00000358554.3, ENST00000369541.4
      Conserved Domains (1) summary
      pfam05700
      Location:11214
      BCAS2; Breast carcinoma amplified sequence 2 (BCAS2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      114567557..114581615 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      114579016..114593070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)