Brca2 BRCA2, DNA repair associated [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Brca2provided by RGD
Official Full Name: BRCA2, DNA repair associatedprovided by RGD
Primary source: RGD:2219
See related: EnsemblRapid:ENSRNOG00000001111 AllianceGenome:RGD:2219
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables single-stranded DNA binding activity. Involved in several processes, including homologous chromosome orientation in meiotic metaphase I; response to estradiol; and spermatogenesis. Predicted to be located in several cellular components, including centrosome; chromosome, telomeric region; and nuclear lumen. Predicted to be part of BRCA2-MAGE-D1 complex; DNA repair complex; and nuclear ubiquitin ligase complex. Predicted to be active in nucleus. Used to study atrophy of testis; cancer; cataract; infertility; and osteosarcoma. Biomarker of ductal carcinoma in situ and prostate cancer. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); esophagus squamous cell carcinoma; 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, Dec 2024]
Expression: Biased expression in Spleen (RPKM 67.6), Thymus (RPKM 61.2) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 12p12

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	12	NC_086030.1 (4895092..4939340)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	12	NC_051347.1 (59492..103789)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	12	NC_005111.4 (503660..544754)

Chromosome 12 - NC_086030.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Besides BRCA1/2 further high-risk breast cancer genes are known; however they account only for a small fraction of inherited breast cancer cases. Most of them are involved in rare cancer predisposition syndromes.
Title: [Genes beyond BRCA1 and BRCA2 for hereditary breast cancer].
crystal structure of a COOH terminal BRCA2 domain bound to DSS1; demonstrate that this BRCA2 domain binds single-stranded DNA and show that BRCA2 stimulates RAD51-mediated recombination in vitro
Title: BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure.
Brca2-/- rats show a phenotype of growth inhibition and sterility in both sexes. Aspermatogenesis in the Brca2-/- rats is due to a failure of homologous chromosome synapsis
Title: Characterizing a rat Brca2 knockout model.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables gamma-tubulin binding	IEA Inferred from Electronic Annotation more info
enables gamma-tubulin binding	ISO Inferred from Sequence Orthology more info
enables histone H3 acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3 acetyltransferase activity	ISO Inferred from Sequence Orthology more info
enables histone H4 acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H4 acetyltransferase activity	ISO Inferred from Sequence Orthology more info
NOT enables histone acetyltransferase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protease binding	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	ISO Inferred from Sequence Orthology more info
involved_in DNA recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in brain development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within brain development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to ionizing radiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ionizing radiation	ISO Inferred from Sequence Orthology more info
involved_in cellular senescence	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular senescence	ISO Inferred from Sequence Orthology more info
involved_in centrosome duplication	IEA Inferred from Electronic Annotation more info
involved_in centrosome duplication	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chordate embryonic development	ISO Inferred from Sequence Orthology more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chromosome organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within double-strand break repair	ISO Inferred from Sequence Orthology more info
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
involved_in double-strand break repair via homologous recombination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of protein localization to telomere	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization to telomere	ISO Inferred from Sequence Orthology more info
involved_in female gonad development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within female gonad development	ISO Inferred from Sequence Orthology more info
involved_in hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within hematopoietic stem cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hemopoiesis	ISO Inferred from Sequence Orthology more info
involved_in homologous chromosome orientation in meiotic metaphase I	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner cell mass cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inner cell mass cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	ISO Inferred from Sequence Orthology more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	ISO Inferred from Sequence Orthology more info
involved_in male meiosis I	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within male meiosis I	ISO Inferred from Sequence Orthology more info
involved_in male meiosis I	ISO Inferred from Sequence Orthology more info
involved_in mammary gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic recombination-dependent replication fork processing	IEA Inferred from Electronic Annotation more info
involved_in mitotic recombination-dependent replication fork processing	ISO Inferred from Sequence Orthology more info
involved_in multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mammary gland epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mammary gland epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair	IEA Inferred from Electronic Annotation more info
involved_in nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in oocyte maturation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within oocyte maturation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cytokinesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cytokinesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within replication fork processing	ISO Inferred from Sequence Orthology more info
involved_in response to UV-C	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to UV-C	ISO Inferred from Sequence Orthology more info
involved_in response to X-ray	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to X-ray	ISO Inferred from Sequence Orthology more info
involved_in response to estradiol	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to gamma radiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to gamma radiation	ISO Inferred from Sequence Orthology more info
involved_in response to nutrient	IEP Inferred from Expression Pattern more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within stem cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance via recombination	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance via recombination	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BRCA2-MAGE-D1 complex	IEA Inferred from Electronic Annotation more info
part_of BRCA2-MAGE-D1 complex	ISO Inferred from Sequence Orthology more info
part_of DNA repair complex	IEA Inferred from Electronic Annotation more info
part_of DNA repair complex	ISO Inferred from Sequence Orthology more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in chromosome	ISO Inferred from Sequence Orthology more info
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
located_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in lateral element	IEA Inferred from Electronic Annotation more info
located_in lateral element	ISO Inferred from Sequence Orthology more info
part_of nuclear ubiquitin ligase complex	IEA Inferred from Electronic Annotation more info
part_of nuclear ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in secretory granule	IEA Inferred from Electronic Annotation more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: breast cancer type 2 susceptibility protein homolog

Names: breast cancer 2, early onset; breast cancer 2, mutation 1, University of Wisconsin-Madison; breast cancer susceptibility protein 2; fanconi anemia group D1 protein homolog

NCBI Reference Sequences (RefSeq)

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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)

NM_031542.2 → NP_113730.2 breast cancer type 2 susceptibility protein homolog

See identical proteins and their annotated locations for NP_113730.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000012

UniProtKB/Swiss-Prot

O35923

UniProtKB/TrEMBL

Q66MH4

Related

ENSRNOP00000001475.4, ENSRNOT00000001475.9

Conserved Domains (5) summary

cd04494
Location:2734 → 2982

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:1198 → 1229

BRCA2; BRCA2 repeat

pfam09103
Location:2600 → 2723

BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1

pfam09104
Location:2984 → 3113

BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3

pfam09169
Location:2411 → 2597

BRCA-2_helical; BRCA2, helical

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086030.1 Reference GRCr8

Range

4895092..4939340

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039089540.2 → XP_038945468.1 breast cancer type 2 susceptibility protein homolog isoform X1

UniProtKB/Swiss-Prot

O35923

Conserved Domains (5) summary

cd04494
Location:2734 → 3012

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:1198 → 1228

BRCA2; BRCA2 repeat

pfam09103
Location:2600 → 2723

BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1

pfam09104
Location:3012 → 3142

BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3

pfam09169
Location:2411 → 2597

BRCA-2_helical; BRCA2, helical
XM_039089543.2 → XP_038945471.1 breast cancer type 2 susceptibility protein homolog isoform X5

UniProtKB/Swiss-Prot

O35923

Related

ENSRNOP00000107212.1, ENSRNOT00000146025.1

Conserved Domains (4) summary

cd04494
Location:2734 → 3012

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:1198 → 1228

BRCA2; BRCA2 repeat

pfam09103
Location:2600 → 2723

BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1

pfam09169
Location:2411 → 2597

BRCA-2_helical; BRCA2, helical
XM_039089542.2 → XP_038945470.1 breast cancer type 2 susceptibility protein homolog isoform X4

UniProtKB/Swiss-Prot

O35923

Conserved Domains (4) summary

cd04494
Location:2734 → 3012

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:1198 → 1228

BRCA2; BRCA2 repeat

pfam09103
Location:2600 → 2723

BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1

pfam09169
Location:2411 → 2597

BRCA-2_helical; BRCA2, helical
XM_017598372.3 → XP_017453861.1 breast cancer type 2 susceptibility protein homolog isoform X2

UniProtKB/Swiss-Prot

O35923

UniProtKB/TrEMBL

Q66MH4

Conserved Domains (5) summary

cd04494
Location:2734 → 2982

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:1198 → 1229

BRCA2; BRCA2 repeat

pfam09103
Location:2600 → 2723

BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1

pfam09104
Location:2984 → 3113

BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3

pfam09169
Location:2411 → 2597

BRCA-2_helical; BRCA2, helical
XM_039089541.2 → XP_038945469.1 breast cancer type 2 susceptibility protein homolog isoform X3

UniProtKB/Swiss-Prot

O35923

Conserved Domains (5) summary

cd04494
Location:2734 → 3012

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:1198 → 1228

BRCA2; BRCA2 repeat

pfam09103
Location:2600 → 2723

BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1

pfam09104
Location:3012 → 3142

BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3

pfam09169
Location:2411 → 2597

BRCA-2_helical; BRCA2, helical
XM_039089544.2 → XP_038945472.1 breast cancer type 2 susceptibility protein homolog isoform X6

Conserved Domains (1) summary

pfam00634
Location:1198 → 1228

BRCA2; BRCA2 repeat