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

Gene ID: 12190, updated on 26-Sep-2022

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 AllianceGenome:MGI:109337
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
Summary
Predicted to enable several functions, including gamma-tubulin binding activity; histone acetyltransferase activity; and protein C-terminus binding activity. Involved in several processes, including establishment of protein localization to telomere; male meiosis I; and telomere maintenance via recombination. Acts upstream of or within several processes, including DNA metabolic process; gamete generation; and signal transduction by p53 class mediator. Located in chromosome; cytoplasm; and nucleus. Is expressed in several structures, including alimentary system; central nervous system; early embryo; genitourinary system; and hemolymphoid system gland. Used to study Fanconi anemia complementation group D1 and breast cancer. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); brain cancer (multiple); hereditary breast ovarian cancer syndrome; melanoma (multiple); and reproductive organ cancer (multiple). Orthologous to human BRCA2 (BRCA2 DNA repair associated). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E11.5 (RPKM 2.0), liver E14 (RPKM 1.6) and 24 other tissues See more
Orthologs
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Genomic context

See Brca2 in Genome Data Viewer
Location:
5 G3; 5 89.52 cM
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (150445759..150493612)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (150522297..150570147)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene zygote arrest 1-like Neighboring gene predicted gene 5 Neighboring gene predicted gene, 25284 Neighboring gene predicted gene, 23641 Neighboring gene predicted gene 42529 Neighboring gene NEDD4 binding protein 2-like 1 Neighboring gene NEDD4 binding protein 2-like 2 Neighboring gene predicted gene, 40353 Neighboring gene PDS5 cohesin associated factor B

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 Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables gamma-tubulin binding ISO
Inferred from Sequence Orthology
more info
 
enables histone H3 acetyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables histone H4 acetyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protease binding ISO
Inferred from Sequence Orthology
more info
 
enables protein C-terminus binding ISO
Inferred from Sequence Orthology
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables single-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA recombination ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to ionizing radiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in centrosome duplication ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within chordate embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within chromosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in double-strand break repair ISO
Inferred from Sequence Orthology
more info
 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in double-strand break repair via homologous recombination ISO
Inferred from Sequence Orthology
more info
 
involved_in establishment of protein localization to telomere IDA
Inferred from Direct Assay
more info
PubMed 
involved_in establishment of protein localization to telomere ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within female gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within hematopoietic stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within hemopoiesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in histone H2A monoubiquitination IC
Inferred by Curator
more info
PubMed 
involved_in histone H3 acetylation ISO
Inferred from Sequence Orthology
more info
 
involved_in histone H4 acetylation ISO
Inferred from Sequence Orthology
more info
 
involved_in homologous chromosome orientation involved in meiotic metaphase I plate congression ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within inner cell mass cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in male meiosis I IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within male meiosis I IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mammary gland development ISO
Inferred from Sequence Orthology
more info
 
involved_in mitotic recombination-dependent replication fork processing ISO
Inferred from Sequence Orthology
more info
 
involved_in multicellular organism growth ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of mammary gland epithelial cell proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in nucleotide-excision repair ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within oocyte maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein autoubiquitination IC
Inferred by Curator
more info
PubMed 
involved_in regulation of DNA damage checkpoint IC
Inferred by Curator
more info
PubMed 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within replication fork protection IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to UV-C IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to X-ray IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to gamma radiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in spermatogenesis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in telomere maintenance via recombination IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of BRCA2-MAGE-D1 complex ISO
Inferred from Sequence Orthology
more info
 
part_of DNA repair complex ISO
Inferred from Sequence Orthology
more info
 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in chromosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in lateral element ISO
Inferred from Sequence Orthology
more info
PubMed 
part_of nuclear ubiquitin ligase complex ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in 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)

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_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
    P97383, P97929
    Related
    ENSMUSP00000038576.8, ENSMUST00000044620.11
    Conserved Domains (5) summary
    cd04494
    Location:27252973
    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 recombination-mediated ...
    pfam00634
    Location:11931223
    BRCA2; BRCA2 repeat
    pfam09103
    Location:25912714
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:29743102
    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
    P97383, P97929
    Related
    ENSMUSP00000144150.2, ENSMUST00000202313.2
    Conserved Domains (5) summary
    cd04494
    Location:27252973
    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 recombination-mediated ...
    pfam00634
    Location:11931223
    BRCA2; BRCA2 repeat
    pfam09103
    Location:25912714
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:29743102
    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 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    150445759..150493612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164758.1XP_036020651.1  breast cancer type 2 susceptibility protein homolog isoform X4

    Conserved Domains (5) summary
    cd04494
    Location:26662914
    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 recombination-mediated ...
    pfam00634
    Location:11341164
    BRCA2; BRCA2 repeat
    pfam09103
    Location:25322655
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:29153043
    BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
    pfam09169
    Location:23432529
    BRCA-2_helical; BRCA2, helical
  2. XM_036164759.1XP_036020652.1  breast cancer type 2 susceptibility protein homolog isoform X5

    Conserved Domains (5) summary
    cd04494
    Location:25422790
    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 recombination-mediated ...
    pfam00634
    Location:10101040
    BRCA2; BRCA2 repeat
    pfam09103
    Location:24082531
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:27912919
    BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
    pfam09169
    Location:22192405
    BRCA-2_helical; BRCA2, helical
  3. XM_006504906.5XP_006504969.1  breast cancer type 2 susceptibility protein homolog isoform X2

    Conserved Domains (5) summary
    cd04494
    Location:26932941
    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 recombination-mediated ...
    pfam00634
    Location:11941223
    BRCA2; BRCA2 repeat
    pfam09103
    Location:25592682
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:29423070
    BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
    pfam09169
    Location:23702556
    BRCA-2_helical; BRCA2, helical
  4. XM_036164760.1XP_036020653.1  breast cancer type 2 susceptibility protein homolog isoform X6

    Conserved Domains (5) summary
    cd04494
    Location:27252973
    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 recombination-mediated ...
    pfam00634
    Location:11931223
    BRCA2; BRCA2 repeat
    pfam09103
    Location:25912714
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:29743102
    BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
    pfam09169
    Location:24022588
    BRCA-2_helical; BRCA2, helical
  5. XM_036164757.1XP_036020650.1  breast cancer type 2 susceptibility protein homolog isoform X1

    UniProtKB/Swiss-Prot
    P97383
    Conserved Domains (5) summary
    cd04494
    Location:27252973
    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 recombination-mediated ...
    pfam00634
    Location:11931223
    BRCA2; BRCA2 repeat
    pfam09103
    Location:25912714
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:29743102
    BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
    pfam09169
    Location:24022588
    BRCA-2_helical; BRCA2, helical
  6. XM_011241019.3XP_011239321.1  breast cancer type 2 susceptibility protein homolog isoform X3

    Conserved Domains (5) summary
    cd04494
    Location:26742922
    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 recombination-mediated ...
    pfam00634
    Location:11431172
    BRCA2; BRCA2 repeat
    pfam09103
    Location:25402663
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:29233051
    BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
    pfam09169
    Location:23512537
    BRCA-2_helical; BRCA2, helical

RNA

  1. XR_001784600.3 RNA Sequence

  2. XR_377265.4 RNA Sequence