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    Brca2 breast cancer 2, early onset [ Mus musculus (house mouse) ]

    Gene ID: 12190, updated on 28-May-2019

    Summary

    Official Symbol
    Brca2provided by MGI
    Official Full Name
    breast cancer 2, early onsetprovided by MGI
    Primary source
    MGI:MGI:109337
    See related
    Ensembl:ENSMUSG00000041147
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fancd1; RAB163
    Expression
    Broad expression in CNS E11.5 (RPKM 2.0), liver E14 (RPKM 1.6) and 24 other tissues See more
    Orthologs

    Genomic context

    See Brca2 in Genome Data Viewer
    Location:
    5 G3; 5 89.52 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 5 NC_000071.6 (150522021..150570147)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (151325198..151372324)

    Chromosome 5 - NC_000071.6Genomic Context describing neighboring genes Neighboring gene predicted gene 5 Neighboring gene zygote arrest 1-like Neighboring gene predicted gene 42529 Neighboring gene NEDD4 binding protein 2-like 1 Neighboring gene NEDD4 binding protein 2-like 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    H3 histone acetyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    H4 histone acetyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    gamma-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    protease binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein C-terminus binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA recombination ISO
    Inferred from Sequence Orthology
    more info
     
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell aging IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome duplication ISO
    Inferred from Sequence Orthology
    more info
     
    chordate embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair ISO
    Inferred from Sequence Orthology
    more info
     
    double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    establishment of protein localization to telomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    establishment of protein localization to telomere ISO
    Inferred from Sequence Orthology
    more info
     
    female gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H3 acetylation ISO
    Inferred from Sequence Orthology
    more info
     
    histone H4 acetylation ISO
    Inferred from Sequence Orthology
    more info
     
    homologous chromosome orientation involved in meiotic metaphase I plate congression ISO
    Inferred from Sequence Orthology
    more info
     
    inner cell mass cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    male meiosis I IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mammary gland development ISO
    Inferred from Sequence Orthology
    more info
     
    mitotic cytokinesis ISO
    Inferred from Sequence Orthology
    more info
     
    mitotic recombination-dependent replication fork processing ISO
    Inferred from Sequence Orthology
    more info
     
    multicellular organism growth ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of mammary gland epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    oocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    replication fork protection IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to UV-C IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to X-ray IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to gamma radiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    telomere maintenance via recombination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    BRCA2-MAGE-D1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    lateral element ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    nuclear chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    secretory granule ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    breast cancer type 2 susceptibility protein homolog
    Names
    fanconi anemia group D1 protein homolog

    NCBI Reference Sequences (RefSeq)

    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_001081001.2NP_001074470.1  breast cancer type 2 susceptibility protein homolog

      See identical proteins and their annotated locations for NP_001074470.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC154885
      Consensus CDS
      CCDS39411.1
      UniProtKB/Swiss-Prot
      P97929
      Related
      ENSMUSP00000038576.7, ENSMUST00000044620.10
      Conserved Domains (5) summary
      cd04494
      Location:27252973
      BRCA2DBD_OB2; BRCA2DBD_OB2: A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous ...
      pfam00634
      Location:11931224
      BRCA2; BRCA2 repeat
      pfam09103
      Location:25912714
      BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
      pfam09104
      Location:29763102
      BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
      pfam09169
      Location:24022588
      BRCA-2_helical; BRCA2, helical
    2. NM_009765.3NP_033895.2  breast cancer type 2 susceptibility protein homolog

      See identical proteins and their annotated locations for NP_033895.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC154885
      Consensus CDS
      CCDS39411.1
      UniProtKB/Swiss-Prot
      P97929
      Related
      ENSMUSP00000144150.1, ENSMUST00000202313.1
      Conserved Domains (5) summary
      cd04494
      Location:27252973
      BRCA2DBD_OB2; BRCA2DBD_OB2: A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous ...
      pfam00634
      Location:11931224
      BRCA2; BRCA2 repeat
      pfam09103
      Location:25912714
      BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
      pfam09104
      Location:29763102
      BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
      pfam09169
      Location:24022588
      BRCA-2_helical; BRCA2, helical

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000071.6 Reference GRCm38.p4 C57BL/6J

      Range
      150522021..150570147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017320629.1XP_017176118.1  breast cancer type 2 susceptibility protein homolog isoform X5

    2. XM_017320628.1XP_017176117.1  breast cancer type 2 susceptibility protein homolog isoform X1

      UniProtKB/Swiss-Prot
      P97929
      Conserved Domains (5) summary
      cd04494
      Location:27252973
      BRCA2DBD_OB2; BRCA2DBD_OB2: A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous ...
      pfam00634
      Location:11931224
      BRCA2; BRCA2 repeat
      pfam09103
      Location:25912714
      BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
      pfam09104
      Location:29763102
      BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
      pfam09169
      Location:24022588
      BRCA-2_helical; BRCA2, helical
    3. XM_006504906.3XP_006504969.1  breast cancer type 2 susceptibility protein homolog isoform X2

      Conserved Domains (5) summary
      cd04494
      Location:26932941
      BRCA2DBD_OB2; BRCA2DBD_OB2: A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous ...
      pfam00634
      Location:11931224
      BRCA2; BRCA2 repeat
      pfam09103
      Location:25592682
      BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
      pfam09104
      Location:29443070
      BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
      pfam09169
      Location:23702556
      BRCA-2_helical; BRCA2, helical
    4. XM_006504907.3XP_006504970.1  breast cancer type 2 susceptibility protein homolog isoform X4

      Conserved Domains (5) summary
      cd04494
      Location:26662914
      BRCA2DBD_OB2; BRCA2DBD_OB2: A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous ...
      pfam00634
      Location:11341165
      BRCA2; BRCA2 repeat
      pfam09103
      Location:25322655
      BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
      pfam09104
      Location:29173043
      BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
      pfam09169
      Location:23432529
      BRCA-2_helical; BRCA2, helical
    5. XM_011241019.2XP_011239321.1  breast cancer type 2 susceptibility protein homolog isoform X3

      Conserved Domains (5) summary
      cd04494
      Location:26742922
      BRCA2DBD_OB2; BRCA2DBD_OB2: A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous ...
      pfam00634
      Location:11421173
      BRCA2; BRCA2 repeat
      pfam09103
      Location:25402663
      BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
      pfam09104
      Location:29253051
      BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
      pfam09169
      Location:23512537
      BRCA-2_helical; BRCA2, helical
    6. XM_011241020.2XP_011239322.1  breast cancer type 2 susceptibility protein homolog isoform X6

      Conserved Domains (5) summary
      cd04494
      Location:26462894
      BRCA2DBD_OB2; BRCA2DBD_OB2: A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous ...
      pfam00634
      Location:11141145
      BRCA2; BRCA2 repeat
      pfam09103
      Location:25122635
      BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
      pfam09104
      Location:28973023
      BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
      pfam09169
      Location:23232509
      BRCA-2_helical; BRCA2, helical

    RNA

    1. XR_377265.2 RNA Sequence

    2. XR_001784600.1 RNA Sequence

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