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

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 identical protein 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; hematopoietic stem cell proliferation; 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); 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, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 2.0), liver E14 (RPKM 1.6) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G3; 5 89.52 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000071.7 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

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BRCA Status Dictates Wnt Responsiveness in Epithelial Ovarian Cancer.
Title: BRCA Status Dictates Wnt Responsiveness in Epithelial Ovarian Cancer.
Mismatch repair protein MLH1 suppresses replicative stress in BRCA2-deficient breast tumors.
Title: Mismatch repair protein MLH1 suppresses replicative stress in BRCA2-deficient breast tumors.
A new vulnerability to BET inhibition due to enhanced autophagy in BRCA2 deficient pancreatic cancer.
Title: A new vulnerability to BET inhibition due to enhanced autophagy in BRCA2 deficient pancreatic cancer.
Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.
Title: Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.
Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.
Title: Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.
WRN helicase safeguards deprotected replication forks in BRCA2-mutated cancer cells.
Title: WRN helicase safeguards deprotected replication forks in BRCA2-mutated cancer cells.
Role of BRCA2 DNA-binding and C-terminal domain in its mobility and conformation in DNA repair.
Title: Role of BRCA2 DNA-binding and C-terminal domain in its mobility and conformation in DNA repair.
Brca2 deficiency drives gastrointestinal tumor formation and is selectively inhibited by mitomycin C.
Title: Brca2 deficiency drives gastrointestinal tumor formation and is selectively inhibited by mitomycin C.
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Title: Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Symmetric neural progenitor divisions require chromatin-mediated homologous recombination DNA repair by Ino80.
Title: Symmetric neural progenitor divisions require chromatin-mediated homologous recombination DNA repair by Ino80.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Variation

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Alleles

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

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (3) 1 citation
Targeted (20) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW045498 (e-PCR)
- UniSTS:165447

Brca2 (e-PCR), detects polymorphism
- UniSTS:547193

Brca2 (e-PCR), detects polymorphism
- UniSTS:141188

Brca2 (e-PCR), detects polymorphism
- UniSTS:141189

Brca2 (e-PCR), detects polymorphism
- UniSTS:141190

Brca2 (e-PCR), detects polymorphism
- UniSTS:141191

RH136072 (e-PCR)
- UniSTS:210067

Brca2 (e-PCR), detects polymorphism
- UniSTS:548053

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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
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 protein binding	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed
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 brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype 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	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
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
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 homologous chromosome orientation in meiotic metaphase I	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	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	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within oocyte maturation	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within positive regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA damage checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within replication fork processing	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	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	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	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
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	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: 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_001081001.2 → NP_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

F8VPU5, O35922, P97383, P97929

UniProtKB/TrEMBL

Q8VHD0

Related

ENSMUSP00000038576.8, ENSMUST00000044620.11

Conserved Domains (5) summary

cd04494
Location:2725 → 2973

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:1193 → 1223

BRCA2; BRCA2 repeat

pfam09103
Location:2591 → 2714

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

pfam09104
Location:2974 → 3102

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

pfam09169
Location:2402 → 2588

BRCA-2_helical; BRCA2, helical
NM_009765.3 → NP_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

F8VPU5, O35922, P97383, P97929

UniProtKB/TrEMBL

Q8VHD0

Related

ENSMUSP00000144150.2, ENSMUST00000202313.2

Conserved Domains (5) summary

cd04494
Location:2725 → 2973

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:1193 → 1223

BRCA2; BRCA2 repeat

pfam09103
Location:2591 → 2714

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

pfam09104
Location:2974 → 3102

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

pfam09169
Location:2402 → 2588

BRCA-2_helical; BRCA2, helical

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

150445759..150493612

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q8VHD0

Conserved Domains (5) summary

cd04494
Location:2666 → 2914

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:1134 → 1164

BRCA2; BRCA2 repeat

pfam09103
Location:2532 → 2655

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

pfam09104
Location:2915 → 3043

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

pfam09169
Location:2343 → 2529

BRCA-2_helical; BRCA2, helical
XM_036164759.1 → XP_036020652.1 breast cancer type 2 susceptibility protein homolog isoform X5

UniProtKB/TrEMBL

Q8VHD0

Conserved Domains (5) summary

cd04494
Location:2542 → 2790

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:1010 → 1040

BRCA2; BRCA2 repeat

pfam09103
Location:2408 → 2531

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

pfam09104
Location:2791 → 2919

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

pfam09169
Location:2219 → 2405

BRCA-2_helical; BRCA2, helical
XM_006504906.5 → XP_006504969.1 breast cancer type 2 susceptibility protein homolog isoform X2

UniProtKB/TrEMBL

Q8VHD0

Conserved Domains (5) summary

cd04494
Location:2693 → 2941

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:1194 → 1223

BRCA2; BRCA2 repeat

pfam09103
Location:2559 → 2682

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

pfam09104
Location:2942 → 3070

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

pfam09169
Location:2370 → 2556

BRCA-2_helical; BRCA2, helical
XM_036164760.1 → XP_036020653.1 breast cancer type 2 susceptibility protein homolog isoform X6

UniProtKB/TrEMBL

Q8VHD0

Conserved Domains (5) summary

cd04494
Location:2725 → 2973

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:1193 → 1223

BRCA2; BRCA2 repeat

pfam09103
Location:2591 → 2714

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

pfam09104
Location:2974 → 3102

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

pfam09169
Location:2402 → 2588

BRCA-2_helical; BRCA2, helical
XM_036164757.1 → XP_036020650.1 breast cancer type 2 susceptibility protein homolog isoform X1

UniProtKB/Swiss-Prot

F8VPU5, O35922, P97383, P97929

UniProtKB/TrEMBL

Q8VHD0

Conserved Domains (5) summary

cd04494
Location:2725 → 2973

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:1193 → 1223

BRCA2; BRCA2 repeat

pfam09103
Location:2591 → 2714

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

pfam09104
Location:2974 → 3102

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

pfam09169
Location:2402 → 2588

BRCA-2_helical; BRCA2, helical
XM_011241019.3 → XP_011239321.1 breast cancer type 2 susceptibility protein homolog isoform X3

UniProtKB/TrEMBL

Q8VHD0

Conserved Domains (5) summary

cd04494
Location:2674 → 2922

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:1143 → 1172

BRCA2; BRCA2 repeat

pfam09103
Location:2540 → 2663

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

pfam09104
Location:2923 → 3051

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

pfam09169
Location:2351 → 2537

BRCA-2_helical; BRCA2, helical