BRCA2

UniProt ID: P51587
Organism: Homo sapiens
Review Status: COMPLETE
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Gene Description

BRCA2 (Breast cancer type 2 susceptibility protein) is a critical tumor suppressor that functions as a mediator of homologous recombination (HR) DNA repair. The protein contains multiple functional domains: BRC repeats that bind RAD51 recombinase, a DNA-binding domain (DBD) with OB folds and tower domain that binds ssDNA, and a C-terminal recombinase-binding region (CTRB) that engages both DNA and RAD51. BRCA2 loads and stabilizes RAD51 onto RPA-coated single-stranded DNA to form the presynaptic filament required for strand invasion during HR. Additionally, BRCA2 protects stalled and reversed replication forks from MRE11-mediated nucleolytic degradation, a function genetically separable from but coordinated with HR. Key partners include RAD51, PALB2, BRCA1-BARD1, and DSS1. Loss of BRCA2 function causes homologous recombination deficiency (HRD), conferring sensitivity to PARP inhibitors and platinum agents. Biallelic mutations cause Fanconi anemia (complementation group D1/FANCD1). BRCA2 localizes predominantly to the nucleus at DNA damage sites.

Existing Annotations Review

GO Term Evidence Action Reason
GO:0003697 single-stranded DNA binding
IBA
GO_REF:0000033
ACCEPT
Summary: BRCA2 binds single-stranded DNA through its DNA-binding domain (DBD) containing OB folds and through its C-terminal region (CTRB). This is essential for its function in loading RAD51 onto ssDNA during homologous recombination.
Reason: Core molecular function. The DBD with OB folds directly binds ssDNA to facilitate RAD51 loading. This is well-supported by structural and biochemical studies (PMID:20729832, Kwon et al. 2023 Nature Comm).
Supporting Evidence:
file:human/BRCA2/BRCA2-deep-research-falcon.md
The canonical DBD comprises a helical domain (HD), three OB folds (OB1-OB3), and a tower domain appendage. It binds DNA with high affinity and preferentially engages ssDNA in concert with DSS1
PMID:20729832
Purified human BRCA2 stimulates RAD51-mediated recombination
PMID:12228710
demonstrate that this BRCA2 domain binds single-stranded DNA
GO:0000724 double-strand break repair via homologous recombination
IBA
GO_REF:0000033
ACCEPT
Summary: BRCA2 is the central mediator of homologous recombination repair, loading RAD51 onto resected ssDNA to form the presynaptic filament required for strand invasion.
Reason: Core biological process. BRCA2's primary function is mediating HR by facilitating RAD51 nucleoprotein filament formation. This is the defining function of BRCA2 and is well-established across multiple lines of evidence.
Supporting Evidence:
file:human/BRCA2/BRCA2-deep-research-falcon.md
BRCA2 is a genome maintenance factor that mediates homologous recombination (HR) by loading and stabilizing the recombinase RAD51 on resected single-stranded DNA (ssDNA) to form the presynaptic filament required for homology search and strand exchange
GO:0000724 double-strand break repair via homologous recombination
IEA
GO_REF:0000120
ACCEPT
Summary: Computational annotation consistent with BRCA2's established role in HR repair.
Reason: This IEA annotation is correctly capturing BRCA2's core function in HR repair. Redundant with IBA but valid.
GO:0003677 DNA binding
IEA
GO_REF:0000043
ACCEPT
Summary: BRCA2 binds DNA through its DNA-binding domain containing OB folds. This is a parent term of ssDNA binding.
Reason: Valid but less specific than GO:0003697 (ssDNA binding). BRCA2 does bind DNA through its DBD and CTRB regions.
GO:0006281 DNA repair
IEA
GO_REF:0000120
ACCEPT
Summary: BRCA2 functions in DNA repair, specifically homologous recombination repair.
Reason: Valid parent term of the more specific GO:0000724. BRCA2 is fundamentally a DNA repair protein.
GO:0005515 protein binding
IPI
PMID:10373512
Interaction between the product of the breast cancer suscept...
REMOVE
Summary: This paper describes the interaction between BRCA2 and DSS1 (SEM1), a functionally conserved protein. DSS1 binding is important for BRCA2 stability and function.
Reason: Generic protein binding is uninformative. The specific interaction (BRCA2-DSS1) is important but should be annotated with a more specific term if available.
Supporting Evidence:
PMID:10373512
Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals.
GO:0005515 protein binding
IPI
PMID:10551859
Expression of BRC repeats in breast cancer cells disrupts th...
REMOVE
Summary: Paper describes BRC repeats binding to RAD51 and disruption of this interaction leading to radiation hypersensitivity.
Reason: Generic protein binding is uninformative. The functionally relevant interaction is RAD51 binding via BRC repeats.
Supporting Evidence:
PMID:10551859
Expression of BRC repeats in breast cancer cells disrupts the BRCA2-Rad51 complex and leads to radiation hypersensitivity and loss of G(2)/M checkpoint control.
GO:0005515 protein binding
IPI
PMID:12442171
Insights into DNA recombination from the structure of a RAD5...
REMOVE
Summary: Structural study of RAD51-BRCA2 complex revealing molecular basis of their interaction.
Reason: Generic protein binding is uninformative. This important structural work reveals RAD51 binding mechanism.
Supporting Evidence:
PMID:12442171
Insights into DNA recombination from the structure of a RAD51-BRCA2 complex.
GO:0005515 protein binding
IPI
PMID:15115758
Direct interaction of FANCD2 with BRCA2 in DNA damage respon...
REMOVE
Summary: Paper describes direct interaction between FANCD2 and BRCA2 in DNA damage response.
Reason: Generic protein binding is uninformative. FANCD2 interaction is relevant to Fanconi anemia pathway.
Supporting Evidence:
PMID:15115758
Apr 28. Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways.
GO:0005515 protein binding
IPI
PMID:15800615
CDK-dependent phosphorylation of BRCA2 as a regulatory mecha...
REMOVE
Summary: CDK-dependent phosphorylation of BRCA2 regulates RAD51 binding and recombinational repair.
Reason: Generic protein binding is uninformative. The key finding is regulated RAD51 interaction.
Supporting Evidence:
PMID:15800615
CDK-dependent phosphorylation of BRCA2 as a regulatory mechanism for recombinational repair.
GO:0005515 protein binding
IPI
PMID:16205630
DSS1 is required for the stability of BRCA2.
REMOVE
Summary: DSS1 is required for BRCA2 stability.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:16205630
DSS1 is required for the stability of BRCA2.
GO:0005515 protein binding
IPI
PMID:17420451
Analysis of PALB2/FANCN-associated breast cancer families.
REMOVE
Summary: Analysis of PALB2/FANCN-associated breast cancer families, describing PALB2 interaction.
Reason: Generic protein binding is uninformative. PALB2 interaction is critical for BRCA2 function.
Supporting Evidence:
PMID:17420451
Analysis of PALB2/FANCN-associated breast cancer families.
GO:0005515 protein binding
IPI
PMID:17515903
Interaction with the BRCA2 C terminus protects RAD51-DNA fil...
REMOVE
Summary: Interaction with BRCA2 C terminus protects RAD51-DNA filaments from BRC repeat-mediated disassembly.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:17515903
Interaction with the BRCA2 C terminus protects RAD51-DNA filaments from disassembly by BRC repeats.
GO:0005515 protein binding
IPI
PMID:17515904
Stabilization of RAD51 nucleoprotein filaments by the C-term...
REMOVE
Summary: Stabilization of RAD51 nucleoprotein filaments by BRCA2 C-terminal region.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:17515904
May 21. Stabilization of RAD51 nucleoprotein filaments by the C-terminal region of BRCA2.
GO:0005515 protein binding
IPI
PMID:17541404
Interactions between human BRCA2 protein and the meiosis-spe...
REMOVE
Summary: Interactions between BRCA2 and meiosis-specific recombinase DMC1.
Reason: Generic protein binding is uninformative. DMC1 binding is relevant for meiotic recombination.
Supporting Evidence:
PMID:17541404
May 31. Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1.
GO:0005515 protein binding
IPI
PMID:18212739
FANCG promotes formation of a newly identified protein compl...
REMOVE
Summary: FANCG promotes formation of complex containing BRCA2, FANCD2 and XRCC3.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:18212739
Jan 21. FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3.
GO:0005515 protein binding
IPI
PMID:18264088
Resistance to therapy caused by intragenic deletion in BRCA2...
REMOVE
Summary: Resistance to therapy caused by intragenic deletion in BRCA2.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:18264088
Resistance to therapy caused by intragenic deletion in BRCA2.
GO:0005515 protein binding
IPI
PMID:19303847
The BRC repeats of BRCA2 modulate the DNA-binding selectivit...
REMOVE
Summary: BRC repeats modulate DNA-binding selectivity of RAD51.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:19303847
The BRC repeats of BRCA2 modulate the DNA-binding selectivity of RAD51.
GO:0005515 protein binding
IPI
PMID:19369211
PALB2 is an integral component of the BRCA complex required ...
REMOVE
Summary: PALB2 is integral component of BRCA complex required for HR repair. With BRCA1 and PALB2.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:19369211
PALB2 is an integral component of the BRCA complex required for homologous recombination repair.
GO:0005515 protein binding
IPI
PMID:19609323
Structural basis for recruitment of BRCA2 by PALB2.
REMOVE
Summary: Structural basis for BRCA2 recruitment by PALB2.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:19609323
Structural basis for recruitment of BRCA2 by PALB2.
GO:0005515 protein binding
IPI
PMID:19628690
The BRC repeats of human BRCA2 differentially regulate RAD51...
REMOVE
Summary: BRC repeats differentially regulate RAD51 binding on ssDNA vs dsDNA.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:19628690
The BRC repeats of human BRCA2 differentially regulate RAD51 binding on single- versus double-stranded DNA to stimulate strand exchange.
GO:0005515 protein binding
IPI
PMID:20421506
Mapping the physical and functional interactions between the...
REMOVE
Summary: Physical and functional interactions between p53 and BRCA2.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:20421506
Mapping the physical and functional interactions between the tumor suppressors p53 and BRCA2.
GO:0005515 protein binding
IPI
PMID:20729832
Purified human BRCA2 stimulates RAD51-mediated recombination...
REMOVE
Summary: Purified BRCA2 stimulates RAD51-mediated recombination. Key mechanistic study.
Reason: Generic protein binding is uninformative. The important finding is RAD51 regulation.
Supporting Evidence:
PMID:20729832
Purified human BRCA2 stimulates RAD51-mediated recombination.
GO:0005515 protein binding
IPI
PMID:20729859
Human BRCA2 protein promotes RAD51 filament formation on RPA...
REMOVE
Summary: BRCA2 promotes RAD51 filament formation on RPA-covered ssDNA.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:20729859
Aug 22. Human BRCA2 protein promotes RAD51 filament formation on RPA-covered single-stranded DNA.
GO:0005515 protein binding
IPI
PMID:21399666
A mitotic function for the high-mobility group protein HMG20...
REMOVE
Summary: HMG20b interaction with BRC repeats of BRCA2 has mitotic function.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:21399666
A mitotic function for the high-mobility group protein HMG20b regulated by its interaction with the BRC repeats of the BRCA2 tumor suppressor.
GO:0005515 protein binding
IPI
PMID:21601571
Valine 1532 of human BRC repeat 4 plays an important role in...
REMOVE
Summary: Valine 1532 of BRC repeat 4 important for BRCA2-RAD51 interaction.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:21601571
Epub 2011 May 17. Valine 1532 of human BRC repeat 4 plays an important role in the interaction between BRCA2 and RAD51.
GO:0005515 protein binding
IPI
PMID:22116401
Synaptonemal complex protein SYCP3 impairs mitotic recombina...
REMOVE
Summary: Synaptonemal complex protein SYCP3 impairs mitotic recombination by interfering with BRCA2.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:22116401
Synaptonemal complex protein SYCP3 impairs mitotic recombination by interfering with BRCA2.
GO:0005515 protein binding
IPI
PMID:22193777
ChAM, a novel motif that mediates PALB2 intrinsic chromatin ...
REMOVE
Summary: ChAM motif mediates PALB2 chromatin binding and facilitates DNA repair.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:22193777
ChAM, a novel motif that mediates PALB2 intrinsic chromatin binding and facilitates DNA repair.
GO:0005515 protein binding
IPI
PMID:22293751
APRIN is a cell cycle specific BRCA2-interacting protein req...
REMOVE
Summary: APRIN is cell cycle specific BRCA2-interacting protein required for genome integrity.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:22293751
APRIN is a cell cycle specific BRCA2-interacting protein required for genome integrity and a predictor of outcome after chemotherapy in breast cancer.
GO:0005515 protein binding
IPI
PMID:24013206
A cancer-associated BRCA2 mutation reveals masked nuclear ex...
REMOVE
Summary: Cancer-associated BRCA2 mutation reveals masked nuclear export signals.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:24013206
Sep 8. A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization.
GO:0005515 protein binding
IPI
PMID:24141787
Breast cancer-associated missense mutants of the PALB2 WD40 ...
REMOVE
Summary: PALB2 WD40 domain directly binds RAD51C, RAD51 and BRCA2.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:24141787
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.
GO:0005515 protein binding
IPI
PMID:24485656
Breast cancer proteins PALB2 and BRCA2 stimulate polymerase ...
REMOVE
Summary: PALB2 and BRCA2 stimulate polymerase eta at blocked replication forks.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:24485656
2014 Jan 30. Breast cancer proteins PALB2 and BRCA2 stimulate polymerase Ξ· in recombination-associated DNA synthesis at blocked replication forks.
GO:0005515 protein binding
IPI
PMID:24981860
Human-chromatin-related protein interactions identify a deme...
REMOVE
Summary: Human chromatin-related protein interactions.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:24981860
2014 Jun 26. Human-chromatin-related protein interactions identify a demethylase complex required for chromosome segregation.
GO:0005515 protein binding
IPI
PMID:25282148
Structure and mechanism of action of the BRCA2 breast cancer...
REMOVE
Summary: Structure and mechanism of action of BRCA2 breast cancer tumor suppressor.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:25282148
2014 Oct 5. Structure and mechanism of action of the BRCA2 breast cancer tumor suppressor.
GO:0005515 protein binding
IPI
PMID:28319063
Compromised BRCA1-PALB2 interaction is associated with breas...
REMOVE
Summary: Compromised BRCA1-PALB2 interaction associated with breast cancer risk.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:28319063
Mar 20. Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.
GO:0005515 protein binding
IPI
PMID:30410870
Two Missense Variants Detected in Breast Cancer Probands Pre...
REMOVE
Summary: Two missense variants preventing BRCA2-PALB2 interaction.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:30410870
Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
GO:0005515 protein binding
IPI
PMID:33961781
Dual proteome-scale networks reveal cell-specific remodeling...
REMOVE
Summary: Dual proteome-scale networks reveal cell-specific remodeling of human interactome.
Reason: Generic protein binding is uninformative. High-throughput study.
Supporting Evidence:
PMID:33961781
2021 May 6. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
GO:0005515 protein binding
IPI
PMID:34591612
A protein interaction landscape of breast cancer.
REMOVE
Summary: Protein interaction landscape of breast cancer.
Reason: Generic protein binding is uninformative. High-throughput study.
Supporting Evidence:
PMID:34591612
Oct 1. A protein interaction landscape of breast cancer.
GO:0005515 protein binding
IPI
PMID:39009827
Proteome-scale characterisation of motif-based interactome r...
REMOVE
Summary: Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:39009827
2024 Jul 15. Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
GO:0005515 protein binding
IPI
PMID:9560268
The BRC repeats in BRCA2 are critical for RAD51 binding and ...
REMOVE
Summary: BRC repeats critical for RAD51 binding and resistance to methyl methanesulfonate.
Reason: Generic protein binding is uninformative. The important finding is RAD51 binding via BRC repeats.
Supporting Evidence:
PMID:9560268
The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment.
GO:0042802 identical protein binding
IPI
PMID:21601571
Valine 1532 of human BRC repeat 4 plays an important role in...
KEEP AS NON CORE
Summary: BRCA2 can form homodimers or oligomers.
Reason: BRCA2 oligomerization has been reported but is not central to its primary function in HR repair.
Supporting Evidence:
PMID:21601571
Epub 2011 May 17. Valine 1532 of human BRC repeat 4 plays an important role in the interaction between BRCA2 and RAD51.
GO:0042802 identical protein binding
IPI
PMID:25282148
Structure and mechanism of action of the BRCA2 breast cancer...
KEEP AS NON CORE
Summary: BRCA2 homodimerization.
Reason: Oligomerization is a secondary property, not core function.
Supporting Evidence:
PMID:25282148
2014 Oct 5. Structure and mechanism of action of the BRCA2 breast cancer tumor suppressor.
GO:0000722 telomere maintenance via recombination
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: BRCA2 has been shown to localize to telomeres and facilitate telomere replication and capping through RAD51 loading (PMID:21076401).
Reason: BRCA2 does function at telomeres via its general HR function, but this is not the primary cellular role. Supported by PMID:21076401.
GO:0001556 oocyte maturation
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: Developmental process in which oocytes develop. BRCA2 is required for proper meiotic recombination.
Reason: Downstream developmental consequence of BRCA2's role in meiotic HR. Not a direct molecular function.
GO:0001833 inner cell mass cell proliferation
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: Embryonic developmental process. BRCA2 knockout is embryonic lethal.
Reason: This is a distal phenotypic consequence of loss of genome maintenance, not a specific function of BRCA2.
GO:0006302 double-strand break repair
IEA
GO_REF:0000107
ACCEPT
Summary: Parent term of HR repair. BRCA2 specifically functions in HR, not NHEJ.
Reason: Valid parent term. BRCA2 functions specifically in the HR subtype of DSB repair.
GO:0007283 spermatogenesis
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: BRCA2 is required for meiotic recombination during spermatogenesis. HSF2BP interaction is required for spermatogenesis (PMID:31242413).
Reason: BRCA2 is essential for meiosis, and loss causes infertility. This is a consequence of its meiotic HR function.
GO:0007420 brain development
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: BRCA2 loss leads to developmental defects including in brain. This is pleiotropic.
Reason: Distal phenotypic effect of genome instability, not a specific BRCA2 function.
GO:0008283 cell population proliferation
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: Generic cell proliferation term.
Reason: Too generic. BRCA2 loss affects proliferation due to genome instability, not via direct regulation of proliferation.
GO:0008585 female gonad development
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: BRCA2 required for meiosis which is essential for gonad development.
Reason: Downstream consequence of meiotic HR function.
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: BRCA2 loss leads to activation of apoptosis due to unrepaired DNA damage.
Reason: BRCA2 does not directly regulate apoptosis. Apoptosis is a downstream consequence of HR deficiency.
GO:0010165 response to X-ray
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: BRCA2-deficient cells are hypersensitive to X-rays due to defective HR repair.
Reason: Valid but represents the phenotypic response rather than BRCA2's direct function.
GO:0010225 response to UV-C
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: Response to UV damage.
Reason: Phenotypic response to DNA damage. BRCA2 participates in repair of UV-induced lesions via HR.
GO:0010332 response to gamma radiation
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: BRCA2 is essential for repair of gamma-radiation induced DSBs.
Reason: Phenotypic response. BRCA2 repairs radiation-induced DSBs via HR.
GO:0030097 hemopoiesis
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: Biallelic BRCA2 mutations cause Fanconi anemia with bone marrow failure.
Reason: Downstream phenotype of BRCA2/FANCD1 deficiency. Not a direct function.
GO:0030330 DNA damage response, signal transduction by p53 class mediator
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: p53 activation occurs when BRCA2-mediated repair fails.
Reason: BRCA2 does not directly regulate p53 signaling. This is an indirect consequence.
GO:0031297 replication fork processing
IEA
GO_REF:0000107
ACCEPT
Summary: BRCA2 protects stalled and reversed replication forks from nucleolytic degradation by MRE11.
Reason: Core function. BRCA2 stabilizes RAD51 on reversed forks to prevent degradation. This is mechanistically separable from but related to HR function.
Supporting Evidence:
file:human/BRCA2/BRCA2-deep-research-falcon.md
Beyond DSB repair, BRCA2 stabilizes RAD51 on stalled/reversed replication forks to prevent nucleolytic degradation (e.g., by MRE11) and to promote restart, a function genetically and biochemically separable but coordinated with HR
PMID:29038466
protects stalled replication forks from nucleolytic degradation
GO:0032465 regulation of cytokinesis
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: BRCA2 has been implicated in centrosome and cytokinesis regulation.
Reason: BRCA2 localizes to centrosomes and affects mitotic fidelity, but this is secondary to HR function.
GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: Apoptosis induction when BRCA2-mediated repair fails.
Reason: Indirect consequence of HR deficiency, not a direct BRCA2 function.
GO:0043009 chordate embryonic development
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: BRCA2 knockout is embryonic lethal.
Reason: Distal phenotypic effect of genome instability.
GO:0045931 positive regulation of mitotic cell cycle
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: BRCA2 loss causes cell cycle arrest.
Reason: BRCA2 does not directly regulate cell cycle. Cell cycle effects are consequence of checkpoint activation.
GO:0051276 chromosome organization
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: BRCA2 affects chromosome stability through HR repair.
Reason: Valid but vague. BRCA2 contributes to chromosome stability via its repair function.
GO:0071425 hematopoietic stem cell proliferation
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: BRCA2/FANCD1 deficiency causes bone marrow failure.
Reason: Phenotypic consequence of Fanconi anemia, not direct function.
GO:0072089 stem cell proliferation
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: Generic stem cell term.
Reason: Too generic and represents phenotypic consequence.
GO:0090398 cellular senescence
IEA
GO_REF:0000107
MARK AS OVER ANNOTATED
Summary: BRCA2 loss can trigger senescence.
Reason: Senescence is a downstream response to DNA damage, not a BRCA2 function.
GO:0000724 double-strand break repair via homologous recombination
IDA
PMID:28398198
Functional and mutational landscapes of BRCA1 for homology-d...
ACCEPT
Summary: Functional and mutational landscapes of BRCA1 for HR and therapy resistance.
Reason: Direct experimental evidence for BRCA2's role in HR repair.
Supporting Evidence:
PMID:28398198
Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance.
GO:0005515 protein binding
IPI
PMID:26833090
Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologo...
REMOVE
Summary: Non-catalytic roles for XPG with BRCA1 and BRCA2 in HR and genome stability.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:26833090
2016 Jan 28. Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability.
GO:0005515 protein binding
IPI
PMID:31242413
HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Req...
REMOVE
Summary: HSF2BP interacts with conserved domain of BRCA2 for spermatogenesis.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:31242413
HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis.
GO:0005515 protein binding
IDA
PMID:9774970
Stable interaction between the products of the BRCA1 and BRC...
REMOVE
Summary: Stable interaction between BRCA1 and BRCA2 in mitotic and meiotic cells.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:9774970
Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells.
GO:0000724 double-strand break repair via homologous recombination
IMP
PMID:21719596
A comprehensive functional characterization of BRCA2 variant...
ACCEPT
Summary: Comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia.
Reason: Mutant phenotype analysis confirms BRCA2's role in HR.
Supporting Evidence:
PMID:21719596
Jun 30. A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
GO:0005515 protein binding
IPI
PMID:21719596
A comprehensive functional characterization of BRCA2 variant...
REMOVE
Summary: BRCA2 variants characterized for functional interactions.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:21719596
Jun 30. A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
GO:0005515 protein binding
IPI
PMID:25585578
FBH1 influences DNA replication fork stability and homologou...
REMOVE
Summary: FBH1 influences DNA replication fork stability through RAD51 ubiquitylation.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:25585578
FBH1 influences DNA replication fork stability and homologous recombination through ubiquitylation of RAD51.
GO:0010484 histone H3 acetyltransferase activity
IDA
PMID:9619837
The BRCA2 is a histone acetyltransferase.
UNDECIDED
Summary: Original 1998 paper claimed BRCA2 has intrinsic HAT activity. However, this finding is controversial and has not been widely replicated. A 1998 study (PMID:9824164) showed that BRCA2 associates with acetyltransferase activity when bound to P/CAF, suggesting the HAT activity is from associated P/CAF, not intrinsic to BRCA2.
Reason: The claim of intrinsic HAT activity is contested. PMID:9824164 indicates the activity comes from P/CAF association. This needs expert review.
Supporting Evidence:
PMID:9619837
The BRCA2 is a histone acetyltransferase.
GO:0010485 histone H4 acetyltransferase activity
IDA
PMID:9619837
The BRCA2 is a histone acetyltransferase.
UNDECIDED
Summary: Same controversial claim as H3 HAT activity.
Reason: Intrinsic HAT activity claim is contested. Needs expert review.
Supporting Evidence:
PMID:9619837
The BRCA2 is a histone acetyltransferase.
GO:0005515 protein binding
IPI
PMID:19423707
PALB2 regulates recombinational repair through chromatin ass...
REMOVE
Summary: PALB2 regulates recombinational repair through chromatin association and oligomerization.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:19423707
2009 May 7. PALB2 regulates recombinational repair through chromatin association and oligomerization.
GO:0000724 double-strand break repair via homologous recombination
IDA
PMID:20729832
Purified human BRCA2 stimulates RAD51-mediated recombination...
ACCEPT
Summary: Purified human BRCA2 stimulates RAD51-mediated recombination. Key biochemical study demonstrating BRCA2's direct role in HR.
Reason: High-quality direct assay evidence confirming BRCA2's role in stimulating RAD51-dependent recombination.
Supporting Evidence:
PMID:20729832
Purified human BRCA2 stimulates RAD51-mediated recombination.
GO:0003697 single-stranded DNA binding
IDA
PMID:20729832
Purified human BRCA2 stimulates RAD51-mediated recombination...
ACCEPT
Summary: Biochemical demonstration that purified BRCA2 binds ssDNA directly.
Reason: Direct biochemical evidence for ssDNA binding activity.
Supporting Evidence:
PMID:20729832
Purified human BRCA2 stimulates RAD51-mediated recombination.
GO:0002020 protease binding
IPI
PMID:15314155
BRCA2 is ubiquitinated in vivo and interacts with USP11, a d...
KEEP AS NON CORE
Summary: BRCA2 interacts with USP11, a deubiquitinating enzyme.
Reason: USP11 is a DUB that regulates BRCA2 stability. This is a regulatory interaction, not core function.
Supporting Evidence:
PMID:15314155
BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage.
GO:0005515 protein binding
IPI
PMID:12242698
Highlight: BRCA1 and BRCA2 proteins in breast cancer.
REMOVE
Summary: BRCA1 and BRCA2 proteins in breast cancer.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:12242698
Highlight: BRCA1 and BRCA2 proteins in breast cancer.
GO:0005515 protein binding
IPI
PMID:15967112
WDRPUH, a novel WD-repeat-containing protein, is highly expr...
REMOVE
Summary: WDRPUH interaction with BRCA2.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:15967112
WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation.
GO:0005515 protein binding
IPI
PMID:11597317
BRCA2 and homologous recombination.
REMOVE
Summary: BRCA2 and homologous recombination review.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:11597317
BRCA2 and homologous recombination.
GO:0005515 protein binding
IPI
PMID:15930293
BRCA2 suppresses cell proliferation via stabilizing MAGE-D1.
REMOVE
Summary: BRCA2 suppresses cell proliferation via stabilizing MAGE-D1.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:15930293
BRCA2 suppresses cell proliferation via stabilizing MAGE-D1.
GO:0005515 protein binding
IPI
PMID:16099937
Analysis of albumin-associated peptides and proteins from ov...
REMOVE
Summary: Analysis of albumin-associated peptides from ovarian cancer patients.
Reason: Generic protein binding is uninformative. Low relevance study.
Supporting Evidence:
PMID:16099937
2005 Aug 11. Analysis of albumin-associated peptides and proteins from ovarian cancer patients.
GO:0005515 protein binding
IPI
PMID:16275750
Centrobin: a novel daughter centriole-associated protein tha...
REMOVE
Summary: Centrobin centriole duplication study.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:16275750
Centrobin: a novel daughter centriole-associated protein that is required for centriole duplication.
GO:0005515 protein binding
IPI
PMID:9774970
Stable interaction between the products of the BRCA1 and BRC...
REMOVE
Summary: BRCA1-BRCA2 interaction in mitotic and meiotic cells.
Reason: Generic protein binding is uninformative.
Supporting Evidence:
PMID:9774970
Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells.
GO:0043015 gamma-tubulin binding
IPI
PMID:17286961
Interference with BRCA2, which localizes to the centrosome d...
KEEP AS NON CORE
Summary: BRCA2 localizes to centrosome and interacts with gamma-tubulin. Interference leads to abnormal nuclear division.
Reason: BRCA2 does localize to centrosomes and binds gamma-tubulin, but this is secondary to its HR function.
Supporting Evidence:
PMID:17286961
Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division.
GO:0004402 histone acetyltransferase activity
IDA NOT
PMID:9824164
BRCA2 associates with acetyltransferase activity when bound ...
ACCEPT
Summary: BRCA2 associates with acetyltransferase activity when bound to P/CAF. This study shows HAT activity comes from P/CAF, not BRCA2 itself.
Reason: This is a NOT (negated) annotation correctly asserting that BRCA2 does NOT have intrinsic histone acetyltransferase activity - the observed activity comes from associated P/CAF (PMID:9824164). This is an accurate, well-supported negative annotation and should be RETAINED, not removed - it documents the absence of a dubious/unreproduced activity and guards against the positive HAT claims (GO:0010484/GO:0010485) being taken at face value. REMOVE would wrongly discard correct curated negative information; the annotation is right, so ACCEPT.
Supporting Evidence:
PMID:9824164
BRCA2 associates with acetyltransferase activity when bound to P/CAF.
GO:0005634 nucleus
IBA
GO_REF:0000033
ACCEPT
Summary: BRCA2 is predominantly nuclear where it functions in DNA repair.
Reason: Core localization. BRCA2 must be nuclear to perform its DNA repair function.
GO:0006355 regulation of DNA-templated transcription
IBA
GO_REF:0000033
KEEP AS NON CORE
Summary: BRCA2 has been reported to have transcriptional activation activity in its N-terminal domain.
Reason: BRCA2 contains a transcriptional activation domain and has been shown to activate transcription (PMID:9126734), but this is not its primary function.
GO:0006338 chromatin remodeling
IEA
GO_REF:0000108
UNDECIDED
Summary: Inferred from claimed HAT activity.
Reason: This inference depends on the contested HAT activity claim. Needs expert review.
GO:0005634 nucleus
IEA
GO_REF:0000120
ACCEPT
Summary: Nuclear localization.
Reason: Consistent with known nuclear function.
GO:0005813 centrosome
IEA
GO_REF:0000044
KEEP AS NON CORE
Summary: BRCA2 localizes to centrosomes during S and early M phase.
Reason: BRCA2 does localize to centrosomes (PMID:17286961, PMID:21276791) but this is secondary to its nuclear DNA repair function.
GO:0006310 DNA recombination
IEA
GO_REF:0000120
ACCEPT
Summary: Parent term of HR.
Reason: Valid. BRCA2 is a key recombination mediator.
GO:0006974 DNA damage response
IEA
GO_REF:0000120
ACCEPT
Summary: BRCA2 is part of the DNA damage response.
Reason: BRCA2 is recruited to and functions at DNA damage sites.
GO:0000152 nuclear ubiquitin ligase complex
IDA
PMID:14636569
Regulation of BRCC, a holoenzyme complex containing BRCA1 an...
ACCEPT
Summary: BRCA2 is part of the BRCC holoenzyme complex which contains BRCA1 and has ubiquitin ligase activity.
Reason: BRCA2 is part of multi-protein DNA repair complexes with ubiquitin ligase activity.
Supporting Evidence:
PMID:14636569
Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair.
GO:0005634 nucleus
IDA
PMID:14636569
Regulation of BRCC, a holoenzyme complex containing BRCA1 an...
ACCEPT
Summary: Nuclear localization is essential for BRCA2's role in homologous recombination DNA repair.
Reason: Nuclear localization is core to BRCA2 function in DNA repair, directly demonstrated by IDA evidence.
Supporting Evidence:
file:human/BRCA2/BRCA2-deep-research-falcon.md
BRCA2 is predominantly nuclear and accumulates at DNA double-strand breaks, ssDNA gaps, and stressed/reversed replication forks
PMID:14636569
Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair.
GO:0071479 cellular response to ionizing radiation
IMP
PMID:14636569
Regulation of BRCC, a holoenzyme complex containing BRCA1 an...
ACCEPT
Summary: BRCA2 is required for proper response to ionizing radiation.
Reason: BRCA2 is essential for repair of radiation-induced DSBs via HR.
Supporting Evidence:
PMID:14636569
Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair.
GO:2000001 regulation of DNA damage checkpoint
NAS
PMID:14636569
Regulation of BRCC, a holoenzyme complex containing BRCA1 an...
KEEP AS NON CORE
Summary: BRCA2 participates in checkpoint regulation.
Reason: BRCA2 affects checkpoint signaling but is not a direct checkpoint regulator.
Supporting Evidence:
PMID:14636569
Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair.
GO:0005694 chromosome
IEA
GO_REF:0000107
ACCEPT
Summary: BRCA2 associates with chromosomes at DNA damage sites.
Reason: BRCA2 is recruited to chromosomal DNA damage sites.
GO:0005737 cytoplasm
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: Some BRCA2 is cytoplasmic before nuclear import.
Reason: BRCA2 is predominantly nuclear but some cytoplasmic localization exists.
GO:0007141 male meiosis I
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: BRCA2 is required for meiotic recombination.
Reason: BRCA2 functions in meiotic HR, essential for meiosis I.
GO:0070200 establishment of protein localization to telomere
IEA
GO_REF:0000107
KEEP AS NON CORE
Summary: BRCA2 facilitates RAD51 localization to telomeres.
Reason: BRCA2 loads RAD51 at telomeres for replication (PMID:21076401).
GO:0005634 nucleus
NAS
PMID:19369211
PALB2 is an integral component of the BRCA complex required ...
ACCEPT
Summary: Nuclear localization in BRCA complex.
Reason: Consistent with established nuclear function.
Supporting Evidence:
PMID:19369211
PALB2 is an integral component of the BRCA complex required for homologous recombination repair.
GO:1990391 DNA repair complex
IPI
PMID:19369211
PALB2 is an integral component of the BRCA complex required ...
ACCEPT
Summary: BRCA2 is part of the BRCA complex with BRCA1 and PALB2 required for HR repair.
Reason: Core component of DNA repair complex.
Supporting Evidence:
PMID:19369211
PALB2 is an integral component of the BRCA complex required for homologous recombination repair.
GO:0005654 nucleoplasm
IDA
GO_REF:0000052
ACCEPT
Summary: BRCA2 localizes to the nucleoplasm where it participates in DNA repair processes.
Reason: Nucleoplasm localization is consistent with BRCA2's role in nuclear DNA repair machinery.
GO:0005829 cytosol
IDA
GO_REF:0000052
KEEP AS NON CORE
Summary: Some BRCA2 is present in cytosol.
Reason: BRCA2 is predominantly nuclear; cytosolic localization is secondary.
GO:0005829 cytosol
TAS
Reactome:R-HSA-9763200
KEEP AS NON CORE
Summary: Reactome pathway annotation for cytosolic BRCA2.
Reason: Secondary localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-9709571
ACCEPT
Summary: Reactome pathway annotation.
Reason: Consistent with nuclear function.
GO:0005634 nucleus
IDA
PMID:26833090
Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologo...
ACCEPT
Summary: Nuclear localization with XPG in HR complex.
Reason: Consistent with nuclear DNA repair function.
Supporting Evidence:
PMID:26833090
2016 Jan 28. Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability.
GO:0032991 protein-containing complex
IDA
PMID:26833090
Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologo...
ACCEPT
Summary: BRCA2 is part of HR protein complex.
Reason: BRCA2 functions in multi-protein complexes.
Supporting Evidence:
PMID:26833090
2016 Jan 28. Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-9709601
ACCEPT
Summary: Reactome pathway annotation.
Reason: Nucleoplasm localization.
GO:0005829 cytosol
TAS
Reactome:R-HSA-9709268
KEEP AS NON CORE
Summary: Reactome pathway annotation.
Reason: Secondary localization.
GO:0005829 cytosol
TAS
Reactome:R-HSA-9709273
KEEP AS NON CORE
Summary: Reactome pathway annotation.
Reason: Secondary localization.
GO:0005829 cytosol
TAS
Reactome:R-HSA-9763137
KEEP AS NON CORE
Summary: Reactome pathway - BRCA2 binds SEM1(DSS1).
Reason: Secondary localization.
GO:0032991 protein-containing complex
IDA
PMID:9774970
Stable interaction between the products of the BRCA1 and BRC...
ACCEPT
Summary: BRCA1-BRCA2 complex in mitotic and meiotic cells.
Reason: BRCA2 forms complexes with BRCA1 and other HR proteins.
Supporting Evidence:
PMID:9774970
Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells.
GO:0000800 lateral element
IDA
PMID:9774970
Stable interaction between the products of the BRCA1 and BRC...
KEEP AS NON CORE
Summary: BRCA2 localizes to synaptonemal complex lateral elements during meiosis.
Reason: Meiosis-specific localization for meiotic HR function.
Supporting Evidence:
PMID:9774970
Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells.
GO:0000781 chromosome, telomeric region
IDA
PMID:21076401
BRCA2 acts as a RAD51 loader to facilitate telomere replicat...
KEEP AS NON CORE
Summary: BRCA2 acts as RAD51 loader at telomeres for telomere replication and capping.
Reason: Telomeric localization for HR-dependent telomere maintenance.
Supporting Evidence:
PMID:21076401
Nov 14. BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping.
GO:0070200 establishment of protein localization to telomere
IDA
PMID:21076401
BRCA2 acts as a RAD51 loader to facilitate telomere replicat...
KEEP AS NON CORE
Summary: BRCA2 localizes RAD51 to telomeres.
Reason: Extension of BRCA2's RAD51 loading function to telomeres.
Supporting Evidence:
PMID:21076401
Nov 14. BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping.
GO:1990426 mitotic recombination-dependent replication fork processing
IMP
PMID:21076401
BRCA2 acts as a RAD51 loader to facilitate telomere replicat...
ACCEPT
Summary: BRCA2 required for recombination-dependent fork processing at telomeres.
Reason: Core function - BRCA2's role in replication fork processing is well-established.
Supporting Evidence:
PMID:21076401
Nov 14. BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5685242
ACCEPT
Summary: Reactome - CHEK1 phosphorylates BRCA2.
Reason: Nucleoplasm localization during checkpoint signaling.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5685341
ACCEPT
Summary: Reactome - BCDX2 complex stabilizes RAD51 filament.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5685838
ACCEPT
Summary: Reactome - CX3 complex binds D-loop.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5686410
ACCEPT
Summary: Reactome - BLM mediates dissolution of double Holliday junction.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5686440
ACCEPT
Summary: Reactome - MUS81:EME1,EME2 cleaves D-loop.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5686469
ACCEPT
Summary: Reactome - Resolution of D-loops.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5686483
ACCEPT
Summary: Reactome - Resolution of Holliday junctions.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5693539
ACCEPT
Summary: Reactome - Ligation of DNA and Holliday structure formation.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5693561
ACCEPT
Summary: Reactome - RAD51 binds BRCA2 at resected DSBs.
Reason: Core nucleoplasm localization for HR.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5693584
ACCEPT
Summary: Reactome - Cleavage of Holliday junctions.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5693589
ACCEPT
Summary: Reactome - D-loop dissociation and strand annealing.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5693593
ACCEPT
Summary: Reactome - D-loop extension by DNA polymerases.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-5693620
ACCEPT
Summary: Reactome - D-loop formation mediated by PALB2, BRCA2 and RAD51.
Reason: Core nucleoplasm localization for HR function.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-9701199
ACCEPT
Summary: Reactome - Defective D-loop formation due to BRCA1 loss.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-9704330
ACCEPT
Summary: Reactome - Defective D-loop formation due to PALB2 loss.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-9704408
ACCEPT
Summary: Reactome - Defective D-loop formation.
Reason: Nucleoplasm localization.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-9853389
ACCEPT
Summary: Reactome - FIGNL1 binds RAD51.
Reason: Nucleoplasm localization.
GO:0005813 centrosome
IDA
PMID:21276791
Homologous recombination proteins are associated with centro...
KEEP AS NON CORE
Summary: HR proteins including BRCA2 associate with centrosomes.
Reason: Centrosome localization is secondary to nuclear DNA repair function.
Supporting Evidence:
PMID:21276791
Epub 2011 Jan 27. Homologous recombination proteins are associated with centrosomes and are required for mitotic stability.
GO:0005654 nucleoplasm
TAS
Reactome:R-HSA-9709273
ACCEPT
Summary: Reactome - BRCA2 translocates to nucleus.
Reason: Nucleoplasm localization.
GO:0051298 centrosome duplication
IMP
PMID:17286961
Interference with BRCA2, which localizes to the centrosome d...
KEEP AS NON CORE
Summary: BRCA2 interference leads to abnormal centrosome duplication.
Reason: BRCA2 affects centrosome function but this is secondary to HR.
Supporting Evidence:
PMID:17286961
Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division.
GO:0045893 positive regulation of DNA-templated transcription
IDA
PMID:9126734
Transcriptional activation functions in BRCA2.
KEEP AS NON CORE
Summary: BRCA2 contains transcriptional activation functions in its N-terminus.
Reason: BRCA2 has transcriptional activation activity but this is not its primary function.
Supporting Evidence:
PMID:9126734
Transcriptional activation functions in BRCA2.
GO:0033593 BRCA2-MAGE-D1 complex
IDA
PMID:15930293
BRCA2 suppresses cell proliferation via stabilizing MAGE-D1.
KEEP AS NON CORE
Summary: BRCA2 forms complex with MAGE-D1 to suppress cell proliferation.
Reason: This complex has anti-proliferative function but is not central to BRCA2's HR role.
Supporting Evidence:
PMID:15930293
BRCA2 suppresses cell proliferation via stabilizing MAGE-D1.
GO:0033600 negative regulation of mammary gland epithelial cell proliferation
IDA
PMID:15930293
BRCA2 suppresses cell proliferation via stabilizing MAGE-D1.
KEEP AS NON CORE
Summary: BRCA2-MAGE-D1 complex suppresses mammary epithelial proliferation.
Reason: Anti-proliferative function is tissue-specific and secondary.
Supporting Evidence:
PMID:15930293
BRCA2 suppresses cell proliferation via stabilizing MAGE-D1.
GO:0005634 nucleus
IDA
PMID:17286961
Interference with BRCA2, which localizes to the centrosome d...
ACCEPT
Summary: Nuclear localization during S and early M phase.
Reason: Core nuclear localization.
Supporting Evidence:
PMID:17286961
Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division.
GO:0005634 nucleus
IDA
PMID:9560268
The BRC repeats in BRCA2 are critical for RAD51 binding and ...
ACCEPT
Summary: Nuclear localization for RAD51 binding.
Reason: Core nuclear localization.
Supporting Evidence:
PMID:9560268
The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment.
GO:0005634 nucleus
IDA
PMID:9774970
Stable interaction between the products of the BRCA1 and BRC...
ACCEPT
Summary: Nuclear localization in mitotic and meiotic cells.
Reason: Core nuclear localization.
Supporting Evidence:
PMID:9774970
Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells.
GO:0005813 centrosome
IDA
PMID:17286961
Interference with BRCA2, which localizes to the centrosome d...
KEEP AS NON CORE
Summary: Centrosome localization during S and early M phase.
Reason: Secondary localization.
Supporting Evidence:
PMID:17286961
Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division.
GO:0006289 nucleotide-excision repair
IMP
PMID:16845393
The role of BRCA2 in replication-coupled DNA interstrand cro...
KEEP AS NON CORE
Summary: BRCA2 role in replication-coupled DNA interstrand cross-link repair.
Reason: BRCA2's primary role is HR, but it participates in ICL repair which involves NER components.
Supporting Evidence:
PMID:16845393
Jul 16. The role of BRCA2 in replication-coupled DNA interstrand cross-link repair in vitro.
GO:0006302 double-strand break repair
IMP
PMID:16845393
The role of BRCA2 in replication-coupled DNA interstrand cro...
ACCEPT
Summary: BRCA2 required for DSB repair in ICL repair context.
Reason: DSB repair is a core BRCA2 function.
Supporting Evidence:
PMID:16845393
Jul 16. The role of BRCA2 in replication-coupled DNA interstrand cross-link repair in vitro.
GO:0030141 secretory granule
IDA
PMID:8589722
BRCA1 is secreted and exhibits properties of a granin.
UNDECIDED
Summary: Old study claiming BRCA1 secretion and granin properties. Reference seems to be about BRCA1 not BRCA2.
Reason: This reference (PMID:8589722) appears to be about BRCA1, not BRCA2. Possible annotation error. Needs verification.
Supporting Evidence:
PMID:8589722
BRCA1 is secreted and exhibits properties of a granin.
GO:0000730 DNA recombinase assembly
IEA NEW
Summary: BRCA2 facilitates RAD51 recombinase assembly on single-stranded DNA by targeting RAD51 to ssDNA over dsDNA, enabling RAD51 to displace RPA and stabilizing RAD51-ssDNA nucleoprotein filaments.
Reason: BRCA2 promotes assembly of RAD51 onto single-stranded DNA. This is a core function essential for homologous recombination repair. Well-supported by biochemical studies.
Supporting Evidence:
file:human/BRCA2/BRCA2-deep-research-falcon.md
BRCA2 mediates homologous recombination (HR) by loading and stabilizing the recombinase RAD51 on resected single-stranded DNA (ssDNA) to form the presynaptic filament required for homology search and strand exchange
PMID:36976771
BRCA2 regulates recombination by initiating RAD51 filament formation
GO:0042148 DNA strand invasion
IEA NEW
Summary: BRCA2 facilitates strand invasion during homologous recombination by promoting RAD51 nucleoprotein filament formation. BRCA2 may also play a role in the extension step after strand invasion at replication-dependent DSBs.
Reason: BRCA2 promotes RAD51 filament formation which is essential for strand invasion during HR. Working with PALB2, BRCA2 is involved in POLH localization at collapsed forks and DNA polymerization.
Supporting Evidence:
file:human/BRCA2/BRCA2-deep-research-falcon.md
D-loop formation mediated by PALB2, BRCA2 and RAD51

Core Functions

Loads and stabilizes RAD51 recombinase onto RPA-coated single-stranded DNA to form the presynaptic filament required for homology search and strand exchange during homologous recombination DNA repair

Supporting Evidence:
  • PMID:20729832
    Purified human BRCA2 stimulates RAD51-mediated recombination
  • PMID:19369211
    PALB2 is an integral component of the BRCA complex required for homologous recombination repair
  • PMID:9560268
    The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment
  • file:human/BRCA2/BRCA2-deep-research-falcon.md
    BRCA2 is a genome maintenance factor that mediates homologous recombination (HR) by loading and stabilizing the recombinase RAD51 on resected single-stranded DNA (ssDNA) to form the presynaptic filament required for homology search and strand exchange
  • PMID:36976771
    BRCA2 regulates recombination by initiating RAD51 filament formation

Protects stalled and reversed replication forks from MRE11-mediated nucleolytic degradation by stabilizing RAD51 on nascent DNA

Supporting Evidence:
  • file:human/BRCA2/BRCA2-deep-research-falcon.md
    Beyond DSB repair, BRCA2 stabilizes RAD51 on stalled/reversed replication forks to prevent nucleolytic degradation (e.g., by MRE11) and to promote restart, a function genetically and biochemically separable but coordinated with HR
  • PMID:29038466
    RAD51 nucleofilaments on regressed arms, to protect them from degradation

References

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Deep Research

Affinage

(BRCA2-deep-research-affinage.md)

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Falcon

(BRCA2-deep-research-falcon.md)

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Perplexity

(BRCA2-deep-research-perplexity.md)

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πŸ“š Additional Documentation

Notes

(BRCA2-notes.md)

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Bioreason Rl Predictions

(BRCA2-bioreason-rl-predictions.md)

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Bioreason Rl Review

(BRCA2-bioreason-rl-review.md)

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πŸ“„ View Raw YAML

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