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P51587 (BRCA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 162. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Breast cancer type 2 susceptibility protein
Alternative name(s):
Fanconi anemia group D1 protein
Gene names
Name:BRCA2
Synonyms:FACD, FANCD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3418 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Ref.6 Ref.7 Ref.10 Ref.16 Ref.18 Ref.19 Ref.20 Ref.21 Ref.24

Subunit structure

Monomer and dimer. Interacts with RAD51; regulates RAD51 recruitment and function at sites of DNA repair. Interacts with DSS1, WDR16, USP11, DMC1, ROCK2 and NPM1. Interacts with both nonubiquitinated and monoubiquitinated FANCD2; this complex also includes XRCC3 and phosphorylated FANCG. Interacts with WDR16. Part of a BRCA complex containing BRCA1, BRCA2 and PALB2. Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3. Interacts with BRCA1 only in the presence of PALB2 which serves as the bridging protein. Interacts with POLH; the interaction is direct. Ref.6 Ref.7 Ref.8 Ref.11 Ref.12 Ref.13 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.23 Ref.24

Subcellular location

Nucleus Probable. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome Ref.22.

Tissue specificity

Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.

Post-translational modification

Phosphorylated by ATM upon irradiation-induced DNA damage. Phosphorylation by CHEK1 and CHEK2 regulates interaction with RAD51. Phosphorylation at Ser-3291 by CDK1 and CDK2 is low in S phase when recombination is active, but increases as cells progress towards mitosis; this phosphorylation prevents homologous recombination-dependent repair during S phase and G2 by inhibiting RAD51 binding. Ref.7 Ref.11 Ref.16

Ubiquitinated in the absence of DNA damage; this does not lead to proteasomal degradation. In contrast, ubiquitination in response to DNA damage leads to proteasomal degradation. Ref.8

Involvement in disease

Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.13 Ref.31 Ref.32 Ref.33 Ref.34 Ref.37 Ref.38 Ref.40 Ref.41 Ref.42 Ref.43 Ref.45 Ref.50 Ref.51 Ref.52 Ref.55 Ref.59 Ref.60 Ref.62 Ref.64

Pancreatic cancer 2 (PNCA2) [MIM:613347]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Breast-ovarian cancer, familial, 2 (BROVCA2) [MIM:612555]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Fanconi anemia complementation group D1 (FANCD1) [MIM:605724]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.53 Ref.58 Ref.67

Glioma 3 (GLM3) [MIM:613029]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Contains 8 BRCA2 repeats.

Ontologies

Keywords
   Biological processCell cycle
DNA damage
DNA recombination
DNA repair
   Cellular componentCytoplasm
Cytoskeleton
Nucleus
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Fanconi anemia
Tumor suppressor
   DomainRepeat
   LigandDNA-binding
   PTMPhosphoprotein
Ubl conjugation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

Inferred from electronic annotation. Source: Ensembl

DNA repair

Traceable author statement. Source: Reactome

brain development

Inferred from electronic annotation. Source: Ensembl

cell aging

Inferred from electronic annotation. Source: Ensembl

centrosome duplication

Inferred from mutant phenotype PubMed 17286961. Source: UniProtKB

cytokinesis

Inferred from direct assay PubMed 17286961. Source: UniProtKB

double-strand break repair

Inferred from mutant phenotype PubMed 16845393. Source: UniProtKB

double-strand break repair via homologous recombination

Inferred from direct assay Ref.20. Source: UniProtKB

female gonad development

Inferred from electronic annotation. Source: Ensembl

hemopoiesis

Inferred from electronic annotation. Source: Ensembl

histone H3 acetylation

Inferred from direct assay PubMed 9619837. Source: UniProtKB

histone H4 acetylation

Inferred from direct assay PubMed 9619837. Source: UniProtKB

inner cell mass cell proliferation

Inferred from electronic annotation. Source: Ensembl

intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

Inferred from electronic annotation. Source: Ensembl

male meiosis I

Inferred from electronic annotation. Source: Ensembl

negative regulation of mammary gland epithelial cell proliferation

Inferred from direct assay PubMed 15930293. Source: UniProtKB

nucleotide-excision repair

Inferred from mutant phenotype PubMed 16845393. Source: UniProtKB

oocyte maturation

Inferred from electronic annotation. Source: Ensembl

positive regulation of mitotic cell cycle

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 9126734. Source: UniProtKB

regulation of cytokinesis

Inferred from electronic annotation. Source: Ensembl

replication fork protection

Inferred from electronic annotation. Source: Ensembl

response to UV-C

Inferred from electronic annotation. Source: Ensembl

response to X-ray

Inferred from electronic annotation. Source: Ensembl

response to gamma radiation

Inferred from electronic annotation. Source: Ensembl

spermatogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentBRCA2-MAGE-D1 complex

Inferred from direct assay PubMed 15930293. Source: UniProtKB

centrosome

Inferred from direct assay PubMed 17286961Ref.22. Source: UniProtKB

cytoplasm

Inferred from direct assay. Source: HPA

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay PubMed 17286961PubMed 9560268PubMed 9774970. Source: UniProtKB

protein complex

Inferred from direct assay PubMed 9774970. Source: UniProtKB

secretory granule

Inferred from direct assay PubMed 8589722. Source: UniProtKB

   Molecular_functionH3 histone acetyltransferase activity

Inferred from direct assay PubMed 9619837. Source: UniProtKB

H4 histone acetyltransferase activity

Inferred from direct assay PubMed 9619837. Source: UniProtKB

gamma-tubulin binding

Inferred from physical interaction PubMed 17286961. Source: UniProtKB

protease binding

Inferred from physical interaction Ref.8. Source: UniProtKB

single-stranded DNA binding

Inferred from direct assay Ref.20. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 34183418Breast cancer type 2 susceptibility protein
PRO_0000064984

Regions

Repeat1002 – 103635BRCA2 1
Repeat1212 – 124635BRCA2 2
Repeat1421 – 145535BRCA2 3
Repeat1517 – 155135BRCA2 4
Repeat1664 – 169835BRCA2 5
Repeat1837 – 187135BRCA2 6
Repeat1971 – 200535BRCA2 7
Repeat2051 – 208535BRCA2 8
Region1 – 4040Interaction with PALB2
Region639 – 1000362Interaction with NPM1
Region1338 – 1781444Interaction with POLH
Region1410 – 1595186Required for stimulation of POLH DNA polymerization activity
Region2350 – 2545196Interaction with FANCD2

Amino acid modifications

Modified residue7551Phosphoserine Ref.14
Modified residue32911Phosphoserine; by CDK1 and CDK2 Ref.11
Modified residue33871Phosphothreonine; by CHEK1 and CHEK2 Ref.16

Natural variations

Natural variant251G → R in BC; abolishes interaction with PALB2. Ref.13
VAR_028167
Natural variant311W → C in BC; abolishes interaction with PALB2. Ref.13
VAR_028168
Natural variant311W → R in BC; abolishes interaction with PALB2. Ref.13
VAR_028169
Natural variant321F → L in BC. Ref.34
VAR_005085
Natural variant421Y → C in BC and ovarian cancer; unknown pathological significance. Ref.51 Ref.61
Corresponds to variant rs4987046 [ dbSNP | Ensembl ].
VAR_020705
Natural variant531K → R in BC. Ref.34
VAR_005086
Natural variant601N → S in BC; unknown pathological significance. Ref.59
VAR_020706
Natural variant641T → I in BC. Ref.60
VAR_032712
Natural variant751A → P in ovarian cancer and renal cancer; unknown pathological significance. Ref.35
Corresponds to variant rs28897701 [ dbSNP | Ensembl ].
VAR_005087
Natural variant811F → L in BC. Ref.34
VAR_005088
Natural variant1081N → H.
VAR_008766
Natural variant1181R → H in one patient with esophageal carcinoma. Ref.47
VAR_032713
Natural variant1921M → T in one patient with pancreatic cancer. Ref.46
VAR_032714
Natural variant2011P → R in BC. Ref.34
VAR_005089
Natural variant2111V → A in BC. Ref.34
VAR_005090
Natural variant2221P → S in BC. Ref.34
VAR_005091
Natural variant2251T → A in one patient with BC; normal RNA expression and splicing. Ref.63
VAR_032715
Natural variant2891N → H Common polymorphism; was originally thought to be linked to ovarian cancer. Ref.3 Ref.36 Ref.40 Ref.54 Ref.60 Ref.64
Corresponds to variant rs766173 [ dbSNP | Ensembl ].
VAR_005092
Natural variant3151C → S in one patient with esophageal carcinoma. Ref.47
Corresponds to variant rs79483201 [ dbSNP | Ensembl ].
VAR_032716
Natural variant3221K → Q. Ref.3
Corresponds to variant rs11571640 [ dbSNP | Ensembl ].
VAR_018908
Natural variant3261S → R in BC. Ref.38
Corresponds to variant rs28897706 [ dbSNP | Ensembl ].
VAR_032717
Natural variant3271K → E in BC; unknown pathological significance.
VAR_008767
Natural variant3551V → L in lung cancer.
VAR_005093
Natural variant3721H → N Common polymorphism; associated with an increased risk of breast cancer and with an effect on prenatal viability with increased fitness of males and decreased fitness of females. Ref.3 Ref.4 Ref.27 Ref.28 Ref.36 Ref.39 Ref.40 Ref.54 Ref.60 Ref.64
Corresponds to variant rs144848 [ dbSNP | Ensembl ].
VAR_005094
Natural variant4051G → R in BC; unknown pathological significance. Ref.59
VAR_020707
Natural variant4311T → I in BC; unknown pathological significance. Ref.55
VAR_020708
Natural variant4481R → H in BC; unknown pathological significance. Ref.59
VAR_020709
Natural variant4621E → G in BC; unknown pathological significance. Ref.54 Ref.59 Ref.60
Corresponds to variant rs56403624 [ dbSNP | Ensembl ].
VAR_020710
Natural variant5051I → T in BC. Ref.42
Corresponds to variant rs28897708 [ dbSNP | Ensembl ].
VAR_032718
Natural variant5131K → R.
Corresponds to variant rs28897709 [ dbSNP | Ensembl ].
VAR_056751
Natural variant5541C → W in BC and pancreas cancer. Ref.33
VAR_005095
Natural variant5821T → P. Ref.56
Corresponds to variant rs80358457 [ dbSNP | Ensembl ].
VAR_008768
Natural variant5981T → A. Ref.48
Corresponds to variant rs28897710 [ dbSNP | Ensembl ].
VAR_020711
Natural variant5991S → F. Ref.2
Corresponds to variant rs1046984 [ dbSNP | Ensembl ].
VAR_035436
Natural variant6131L → R in BC; unknown pathological significance. Ref.51
VAR_020712
Natural variant6301T → I in ovarian cancer.
VAR_005096
Natural variant7071D → Y.
Corresponds to variant rs80358487 [ dbSNP | Ensembl ].
VAR_008769
Natural variant7281D → A in BC.
VAR_005097
Natural variant7291I → M in BC. Ref.40
VAR_032719
Natural variant7841M → V. Ref.3 Ref.64
Corresponds to variant rs11571653 [ dbSNP | Ensembl ].
VAR_008770
Natural variant8861N → I.
VAR_008771
Natural variant9291L → S. Ref.3
Corresponds to variant rs2227943 [ dbSNP | Ensembl ].
VAR_018909
Natural variant9351D → N in BC; unknown pathological significance.
Corresponds to variant rs28897716 [ dbSNP | Ensembl ].
VAR_008772
Natural variant9761S → F. Ref.3
Corresponds to variant rs11571656 [ dbSNP | Ensembl ].
VAR_018910
Natural variant9821I → L.
Corresponds to variant rs28897717 [ dbSNP | Ensembl ].
VAR_056752
Natural variant9871N → I. Ref.3
Corresponds to variant rs2227944 [ dbSNP | Ensembl ].
VAR_018911
Natural variant9911N → D Common polymorphism. Ref.3 Ref.28 Ref.36 Ref.40 Ref.54 Ref.59 Ref.60 Ref.64
Corresponds to variant rs1799944 [ dbSNP | Ensembl ].
VAR_005098
Natural variant10361E → K in BC; unknown pathological significance. Ref.55
VAR_020713
Natural variant11061S → R in BC; unknown pathological significance. Ref.55
VAR_020714
Natural variant11471N → S. Ref.28
Corresponds to variant rs1799951 [ dbSNP | Ensembl ].
VAR_005099
Natural variant11721S → L in BC; unknown pathological significance. Ref.65
VAR_032720
Natural variant11791S → N in BC. Ref.41
VAR_020715
Natural variant12791N → S. Ref.54 Ref.60
VAR_020716
Natural variant12861Missing.
VAR_008773
Natural variant12901C → Y.
Corresponds to variant rs41293485 [ dbSNP | Ensembl ].
VAR_008774
Natural variant13021Missing in BC.
VAR_005100
Natural variant14141T → M.
Corresponds to variant rs70953664 [ dbSNP | Ensembl ].
VAR_008775
Natural variant14201D → Y. Ref.41 Ref.48 Ref.54 Ref.60 Ref.65
Corresponds to variant rs28897727 [ dbSNP | Ensembl ].
VAR_008776
Natural variant14451K → T in BC; unknown pathological significance. Ref.64
VAR_020717
Natural variant15131D → N.
VAR_008777
Natural variant15221L → F in one patient with BC. Ref.56
VAR_032721
Natural variant15241F → V in BC; unknown pathological significance. Ref.55
VAR_020718
Natural variant15291G → R in bladder cancer.
Corresponds to variant rs28897728 [ dbSNP | Ensembl ].
VAR_005101
Natural variant15421V → M.
Corresponds to variant rs28897729 [ dbSNP | Ensembl ].
VAR_056753
Natural variant15611H → N. Ref.3
Corresponds to variant rs2219594 [ dbSNP | Ensembl ].
VAR_018912
Natural variant15801C → Y in BC; somatic mutation. Ref.52
VAR_020719
Natural variant15931E → D. Ref.49
VAR_008778
Natural variant16431V → A.
Corresponds to variant rs28897731 [ dbSNP | Ensembl ].
VAR_056754
Natural variant16791T → I in BC. Ref.62
VAR_020720
Natural variant16901K → N in BC. Ref.60
VAR_032722
Natural variant17301N → Y in BC. Ref.42
VAR_032723
Natural variant17711G → D in BC; unknown pathological significance. Ref.54 Ref.60
Corresponds to variant rs80358755 [ dbSNP | Ensembl ].
VAR_008779
Natural variant18041V → A in BC. Ref.62
VAR_020721
Natural variant18051N → S.
Corresponds to variant rs80358765 [ dbSNP | Ensembl ].
VAR_008780
Natural variant18801N → K Polymorphism; was originally thought to be linked to breast cancer. Ref.3 Ref.42
Corresponds to variant rs11571657 [ dbSNP | Ensembl ].
VAR_005102
Natural variant18871T → M in BC. Ref.60
VAR_032724
Natural variant19011E → K in BC. Ref.62
VAR_020722
Natural variant19021D → N.
Corresponds to variant rs4987048 [ dbSNP | Ensembl ].
VAR_008781
Natural variant19151T → M May be a rare polymorphism; somatic mutation. Ref.3 Ref.27 Ref.28 Ref.40 Ref.52 Ref.60
Corresponds to variant rs4987117 [ dbSNP | Ensembl ].
VAR_005103
Natural variant19291I → V in BC; unknown pathological significance. Ref.64
Corresponds to variant rs79538375 [ dbSNP | Ensembl ].
VAR_020723
Natural variant19791S → R.
Corresponds to variant rs28897737 [ dbSNP | Ensembl ].
VAR_056755
Natural variant19881V → I in one patient with esophageal carcinoma; somatic mutation. Ref.47
VAR_032725
Natural variant20311T → A in BC; unknown pathological significance. Ref.64
VAR_020724
Natural variant20341R → C. Ref.28 Ref.48 Ref.57
Corresponds to variant rs1799954 [ dbSNP | Ensembl ].
VAR_005104
Natural variant20441G → V in one patient with BC. Ref.56
Corresponds to variant rs56191579 [ dbSNP | Ensembl ].
VAR_032726
Natural variant20721S → C in BC. Ref.45
VAR_020725
Natural variant20741H → N.
Corresponds to variant rs34309943 [ dbSNP | Ensembl ].
VAR_008782
Natural variant20891E → D in BC. Ref.32
VAR_008783
Natural variant20941Y → C in BC. Ref.45
VAR_020726
Natural variant20961P → L in BC. Ref.62
VAR_020727
Natural variant21081R → C. Ref.60
Corresponds to variant rs55794205 [ dbSNP | Ensembl ].
VAR_032727
Natural variant21161H → R.
Corresponds to variant rs55953736 [ dbSNP | Ensembl ].
VAR_061563
Natural variant21181V → L in BC; unknown pathological significance. Ref.51
VAR_020728
Natural variant21281K → N in BC. Ref.45
VAR_020729
Natural variant21351N → H in BC. Ref.42
VAR_032728
Natural variant21381V → F. Ref.3
Corresponds to variant rs11571659 [ dbSNP | Ensembl ].
VAR_008784
Natural variant21621K → R. Ref.3
Corresponds to variant rs11571660 [ dbSNP | Ensembl ].
VAR_018913
Natural variant22221Y → C in BC. Ref.42
VAR_032729
Natural variant22381D → E.
Corresponds to variant rs28897742 [ dbSNP | Ensembl ].
VAR_056756
Natural variant22741G → V in BC.
VAR_005105
Natural variant22751E → G in BC; unknown pathological significance. Ref.59
VAR_020730
Natural variant22931F → L in BC; unknown pathological significance. Ref.51
VAR_020731
Natural variant23361R → H in FANCD1. Ref.66 Ref.67
Corresponds to variant rs28897743 [ dbSNP | Ensembl ].
VAR_032730
Natural variant23361R → Q.
Corresponds to variant rs28897743 [ dbSNP | Ensembl ].
VAR_056757
Natural variant23531G → R in BC; unknown pathological significance. Ref.59
VAR_020732
Natural variant24151H → N in BC. Ref.31
VAR_005106
Natural variant24211Q → H in BC.
VAR_005107
Natural variant24401H → R. Ref.3
Corresponds to variant rs4986860 [ dbSNP | Ensembl ].
VAR_018914
Natural variant24471N → D.
Corresponds to variant rs4986859 [ dbSNP | Ensembl ].
VAR_056758
Natural variant24561Q → E in BC. Ref.60
VAR_032731
Natural variant24661A → V Polymorphism; was originally thought to be linked to ovarian cancer. Ref.3 Ref.4 Ref.27 Ref.54 Ref.60
VAR_008785
Natural variant24801L → V.
Corresponds to variant rs80358965 [ dbSNP | Ensembl ].
VAR_008786
Natural variant24881R → K in BC; unknown pathological significance. Ref.59
VAR_020733
Natural variant24901I → T. Ref.3
Corresponds to variant rs11571707 [ dbSNP | Ensembl ].
VAR_008787
Natural variant25021R → C in BC; unknown pathological significance. Ref.66
VAR_063911
Natural variant25021R → H in ovarian cancer; unknown pathological significance. Ref.35
VAR_008788
Natural variant25101L → P in FANCD1. Ref.58
VAR_032732
Natural variant25151T → I in BC; unknown pathological significance. Ref.40
Corresponds to variant rs28897744 [ dbSNP | Ensembl ].
VAR_008789
Natural variant26261W → C in FANCD1. Ref.66 Ref.67
VAR_032733
Natural variant26271I → F in BC; unknown pathological significance. Ref.66
VAR_063912
Natural variant26531L → P in BC; unknown pathological significance. Ref.66
VAR_063913
Natural variant26591R → K in BC; unknown pathological significance. Ref.66
VAR_063914
Natural variant26631E → V Could be associated with cancer susceptibility; major splicing aberration identified with this mutant; multifactorial likelihood analysis provides evidence for pathogenicity. Ref.66 Ref.68
VAR_063915
Natural variant26861L → P.
Corresponds to variant rs28897746 [ dbSNP | Ensembl ].
VAR_056759
Natural variant27061N → S. Ref.49
VAR_020734
Natural variant27221T → R in BC. Ref.43 Ref.66
VAR_018661
Natural variant27231D → G Could be associated with cancer susceptibility; has abrogated function consistent with pathogenicity; major splicing aberration identified with this mutant. Ref.66 Ref.68
VAR_063916
Natural variant27231D → H in BC; unknown pathological significance. Ref.59
VAR_020735
Natural variant27281V → I in BC. Ref.38 Ref.40 Ref.48
Corresponds to variant rs28897749 [ dbSNP | Ensembl ].
VAR_020736
Natural variant27291K → N in BC. Ref.50
Corresponds to variant rs80359065 [ dbSNP | Ensembl ].
VAR_020737
Natural variant27481G → D in BC; unknown pathological significance. Ref.66
VAR_063917
Natural variant27871R → H in ovarian cancer; somatic mutation. Ref.27
VAR_008790
Natural variant27921L → P.
Corresponds to variant rs28897751 [ dbSNP | Ensembl ].
VAR_056760
Natural variant27931G → R in BC; unknown pathological significance. Ref.51
VAR_020738
Natural variant28351S → P. Ref.3
Corresponds to variant rs11571746 [ dbSNP | Ensembl ].
VAR_018915
Natural variant28421R → C in one patient with esophageal carcinoma; somatic mutation. Ref.47
VAR_032734
Natural variant28561E → A. Ref.3 Ref.59
Corresponds to variant rs11571747 [ dbSNP | Ensembl ].
VAR_018916
Natural variant29441I → F. Ref.3 Ref.65
Corresponds to variant rs4987047 [ dbSNP | Ensembl ].
VAR_008791
Natural variant29501K → N in BC; unknown pathological significance. Ref.59 Ref.65
Corresponds to variant rs28897754 [ dbSNP | Ensembl ].
VAR_020739
Natural variant29511A → T. Ref.3 Ref.48
Corresponds to variant rs11571769 [ dbSNP | Ensembl ].
VAR_008792
Natural variant29691V → M.
Corresponds to variant rs59004709 [ dbSNP | Ensembl ].
VAR_008793
Natural variant30131T → I in BC; unknown pathological significance. Ref.59 Ref.65
Corresponds to variant rs28897755 [ dbSNP | Ensembl ].
VAR_020740
Natural variant30521R → W Could be associated with cancer susceptibility; has abrogated function consistent with pathogenicity; multifactorial likelihood analysis provides evidence for pathogenicity. Ref.68
VAR_063918
Natural variant30631P → S in a patient with ovarian cancer; unknown pathological significance. Ref.61
VAR_020741
Natural variant30761G → E. Ref.57
VAR_020742
Natural variant30951D → E in BC; unknown pathological significance. Ref.29 Ref.66
VAR_005108
Natural variant30981Y → H in BC and ovarian cancer; unknown pathological significance. Ref.35 Ref.59
Corresponds to variant rs41293521 [ dbSNP | Ensembl ].
VAR_008794
Natural variant31011L → R.
Corresponds to variant rs28897758 [ dbSNP | Ensembl ].
VAR_056761
Natural variant31031I → M in melanoma.
VAR_005109
Natural variant31181M → T in BC. Ref.34
VAR_005110
Natural variant31241N → I in BC. Ref.41
VAR_020743
Natural variant31961K → E in BC. Ref.41
Corresponds to variant rs80359228 [ dbSNP | Ensembl ].
VAR_020744
Natural variant32441V → I. Ref.3
Corresponds to variant rs11571831 [ dbSNP | Ensembl ].
VAR_018917
Natural variant32571K → R.
VAR_008795
Natural variant32761R → S.
VAR_008796
Natural variant33001P → S in one patient with esophageal carcinoma. Ref.47
VAR_032735
Natural variant33571T → R in BC.
VAR_005111
Natural variant33741T → I. Ref.51
Corresponds to variant rs56309455 [ dbSNP | Ensembl ].
VAR_020745
Natural variant34121I → V Polymorphism; was originally thought to be associated with breast cancer. Ref.3 Ref.32 Ref.36 Ref.40 Ref.50 Ref.59 Ref.61 Ref.64
Corresponds to variant rs1801426 [ dbSNP | Ensembl ].
VAR_005112

Experimental info

Mutagenesis32911S → E: Impaired interaction with RAD51. Ref.11
Mutagenesis33871T → A: Loss of phosphorylation by CHEK1 and CHEK2 (in vitro). Ref.16
Sequence conflict7581S → N in CAA64484. Ref.1
Sequence conflict1761 – 17622GY → RI in CAA64484. Ref.1
Sequence conflict17671K → N in CAA64484. Ref.1
Sequence conflict25361S → P in CAA98995. Ref.4
Sequence conflict32161L → LVS in CAA97728. Ref.4

Secondary structure

........ 3418
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P51587 [UniParc].

Last modified June 20, 2001. Version 2.
Checksum: 2D14D996FD8241C2

FASTA3,418384,225
        10         20         30         40         50         60 
MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN 

        70         80         90        100        110        120 
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV 

       130        140        150        160        170        180 
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI 

       190        200        210        220        230        240 
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL 

       250        260        270        280        290        300 
KKNDRFIASV TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV 

       310        320        330        340        350        360 
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE KYSFVSEVEP 

       370        380        390        400        410        420 
NDTDPLDSNV AHQKPFESGS DKISKEVVPS LACEWSQLTL SGLNGAQMEK IPLLHISSCD 

       430        440        450        460        470        480 
QNISEKDLLD TENKRKKDFL TSENSLPRIS SLPKSEKPLN EETVVNKRDE EQHLESHTDC 

       490        500        510        520        530        540 
ILAVKQAISG TSPVASSFQG IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL 

       550        560        570        580        590        600 
EIHTVCSQKE DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY 

       610        620        630        640        650        660 
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN DSEEPTLSLT 

       670        680        690        700        710        720 
SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL FITPEADSLS CLQEGQCEND 

       730        740        750        760        770        780 
PKSKKVSDIK EEVLAAACHP VQHSKVEYSD TDFQSQKSLL YDHENASTLI LTPTSKDVLS 

       790        800        810        820        830        840 
NLVMISRGKE SYKMSDKLKG NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM 

       850        860        870        880        890        900 
RVASPSRKVQ FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN 

       910        920        930        940        950        960 
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV LAEENKNSVK 

       970        980        990       1000       1010       1020 
QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI SNHSFGGSFR TASNKEIKLS 

      1030       1040       1050       1060       1070       1080 
EHNIKKSKMF FKDIEEQYPT SLACVEIVNT LALDNQKKLS KPQSINTVSA HLQSSVVVSD 

      1090       1100       1110       1120       1130       1140 
CKNSHITPQM LFSKQDFNSN HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS 

      1150       1160       1170       1180       1190       1200 
TFEVPENQMT ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC 

      1210       1220       1230       1240       1250       1260 
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE TSAEVHPISL 

      1270       1280       1290       1300       1310       1320 
SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM TTGTFVEEIT ENYKRNTENE 

      1330       1340       1350       1360       1370       1380 
DNKYTAASRN SHNLEFDGSD SSKNDTVCIH KDETDLLFTD QHNICLKLSG QFMKEGNTQI 

      1390       1400       1410       1420       1430       1440 
KEDLSDLTFL EVAKAQEACH GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK 

      1450       1460       1470       1480       1490       1500 
ESFNKIVNFF DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG 

      1510       1520       1530       1540       1550       1560 
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE QGTSEITSFS 

      1570       1580       1590       1600       1610       1620 
HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN DKNLVSIETV VPPKLLSDNL 

      1630       1640       1650       1660       1670       1680 
CRQTENLKTS KSIFLKVKVH ENVEKETAKS PATCYTNQSP YSVIENSALA FYTSCSRKTS 

      1690       1700       1710       1720       1730       1740 
VSQTSLLEAK KWLREGIFDG QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL 

      1750       1760       1770       1780       1790       1800 
SNSSMSNSYS YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY 

      1810       1820       1830       1840       1850       1860 
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK IVCVSHETIK 

      1870       1880       1890       1900       1910       1920 
KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS EDILHNSLDN DECSTHSHKV 

      1930       1940       1950       1960       1970       1980 
FADIQSEEIL QHNQNMSGLE KVSKISPCDV SLETSDICKC SIGKLHKSVS SANTCGIFST 

      1990       2000       2010       2020       2030       2040 
ASGKSVQVSD ASLQNARQVF SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI 

      2050       2060       2070       2080       2090       2100 
SQKGFSYNVV NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ 

      2110       2120       2130       2140       2150       2160 
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK VSPYLSQFQQ 

      2170       2180       2190       2200       2210       2220 
DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF SDVPVKTNIE VCSTYSKDSE 

      2230       2240       2250       2260       2270       2280 
NYFETEAVEI AKAFMEDDEL TDSKLPSHAT HSLFTCPENE EMVLSNSRIG KRRGEPLILV 

      2290       2300       2310       2320       2330       2340 
GEPSIKRNLL NEFDRIIENQ EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE 

      2350       2360       2370       2380       2390       2400 
RQEIQNPNFT APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG 

      2410       2420       2430       2440       2450       2460 
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN DNEIHQFNKN 

      2470       2480       2490       2500       2510       2520 
NSNQAAAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR QRVFPQPGSL YLAKTSTLPR 

      2530       2540       2550       2560       2570       2580 
ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI KINSKNAESF QFHTEDYFGK ESLWTGKGIQ 

      2590       2600       2610       2620       2630       2640 
LADGGWLIPS NDGKAGKEEF YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK 

      2650       2660       2670       2680       2690       2700 
EFANRCLSPE RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI 

      2710       2720       2730       2740       2750       2760 
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK IILHGAELVG 

      2770       2780       2790       2800       2810       2820 
SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP FPLPLSSLFS DGGNVGCVDV 

      2830       2840       2850       2860       2870       2880 
IIQRAYPIQW MEKTSSGLYI FRNEREEEKE AAKYVEAQQK RLEALFTKIQ EEFEEHEENT 

      2890       2900       2910       2920       2930       2940 
TKPYLPSRAL TRQQVRALQD GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK 

      2950       2960       2970       2980       2990       3000 
QAQIQLEIRK AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSVILSIW RPSSDLYSLL 

      3010       3020       3030       3040       3050       3060 
TEGKRYRIYH LATSKSKSKS ERANIQLAAT KKTQYQQLPV SDEILFQIYQ PREPLHFSKF 

      3070       3080       3090       3100       3110       3120 
LDPDFQPSCS EVDLIGFVVS VVKKTGLAPF VYLSDECYNL LAIKFWIDLN EDIIKPHMLI 

      3130       3140       3150       3160       3170       3180 
AASNLQWRPE SKSGLLTLFA GDFSVFSASP KEGHFQETFN KMKNTVENID ILCNEAENKL 

      3190       3200       3210       3220       3230       3240 
MHILHANDPK WSTPTKDCTS GPYTAQIIPG TGNKLLMSSP NCEIYYQSPL SLCMAKRKSV 

      3250       3260       3270       3280       3290       3300 
STPVSAQMTS KSCKGEKEID DQKNCKKRRA LDFLSRLPLP PPVSPICTFV SPAAQKAFQP 

      3310       3320       3330       3340       3350       3360 
PRSCGTKYET PIKKKELNSP QMTPFKKFNE ISLLESNSIA DEELALINTQ ALLSGSTGEK 

      3370       3380       3390       3400       3410 
QFISVSESTR TAPTSSEDYL RLKRRCTTSL IKEQESSQAS TEECEKNKQD TITTKKYI 

« Hide

References

« Hide 'large scale' references
[1]"Identification of the breast cancer susceptibility gene BRCA2."
Wooster R., Bignell G., Lancaster J., Swift S., Seal S., Mangion J., Collins N., Gregory S., Gumbs C., Micklem G., Barfoot R., Hamoudi R., Patel S., Rice C., Biggs P., Hashim Y., Smith A., Connor F. expand/collapse author list , Arason A., Gudmundsson J., Ficenec D., Kelsell D., Ford D., Tonin P., Bishop D.T., Spurr N.K., Ponder B.A.J., Eeles R., Peto J., Devilee P., Cornelisse C., Lynch H., Narod S., Lenoir G., Egilsson V., Barkadottir R.B., Easton D.F., Bentley D.R., Futreal P.A., Ashworth A., Stratton M.R.
Nature 378:789-792(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds."
Tavtigian S.V., Simard J., Rommens J., Couch F., Shattuck-Eidens D., Neuhausen S., Merajver S., Thorlacius S., Offit K., Stoppa-Lyonnet D., Belanger C., Bell R., Berry S., Bogden R., Chen Q., Davis T., Dumont M., Frye C. expand/collapse author list , Hattier T., Jammulapati S., Janecki T., Jiang P., Kehrer R., Leblanc J.-F., Mitchell J.T., McArthur-Morrison J., Nguyen K., Peng Y., Samson C., Schroeder M., Snyder S.C., Steele L., Stringfellow M., Stroup C., Swedlund B., Swensen J., Teng D., Thomas A., Tran T., Tran T., Tranchant M., Weaver-Feldhaus J., Wong A.K.C., Shizuya H., Eyfjord J.E., Cannon-Albright L., Labrie F., Skolnick M.H., Weber B., Kamb A., Goldar D.E.
Nat. Genet. 12:333-337(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT PHE-599.
[3]NIEHS SNPs program
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-289; GLN-322; ASN-372; VAL-784; SER-929; PHE-976; ILE-987; ASP-991; ASN-1561; LYS-1880; MET-1915; PHE-2138; ARG-2162; ARG-2440; VAL-2466; THR-2490; PRO-2835; ALA-2856; PHE-2944; THR-2951; ILE-3244 AND VAL-3412.
[4]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ASN-372 AND VAL-2466.
[5]"Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients."
Ozcelik H., Schmocker B., Di Nicola N., Shi X.H., Langer B., Moore M., Taylor B.R., Narod S.A., Darlington G., Andrulis I.L., Gallinger S., Redston M.
Nat. Genet. 16:17-18(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PNCA2.
[6]"Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways."
Hussain S., Wilson J.B., Medhurst A.L., Hejna J., Witt E., Ananth S., Davies A., Masson J.-Y., Moses R., West S.C., de Winter J.P., Ashworth A., Jones N.J., Mathew C.G.
Hum. Mol. Genet. 13:1241-1248(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH FANCD2.
[7]"Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin."
Wang X.Z., Andreassen P.R., D'Andrea A.D.
Mol. Cell. Biol. 24:5850-5862(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, PHOSPHORYLATION, INTERACTION WITH FANCD2.
[8]"BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage."
Schoenfeld A.R., Apgar S., Dolios G., Wang R., Aaronson S.A.
Mol. Cell. Biol. 24:7444-7455(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: UBIQUITINATION, DEUBIQUITINATION, INTERACTION WITH USP11.
[9]"Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour."
The famillial Wilms tumor collaboration
Reid S., Renwick A., Seal S., Baskcomb L., Barfoot R., Jayatilake H., Pritchard-Jones K., Stratton M.R., Ridolfi-Luethy A., Rahman N.
J. Med. Genet. 42:147-151(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN GLM3.
[10]"FANCD2 functions independently of BRCA2 and RAD51 associated homologous recombination in response to DNA damage."
Ohashi A., Zdzienicka M.Z., Chen J., Couch F.J.
J. Biol. Chem. 280:14877-14883(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[11]"CDK-dependent phosphorylation of BRCA2 as a regulatory mechanism for recombinational repair."
Esashi F., Christ N., Gannon J., Liu Y., Hunt T., Jasin M., West S.C.
Nature 434:598-604(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION AT SER-3291 BY CDK2, INTERACTION WITH RAD51, MUTAGENESIS OF SER-3291.
[12]"WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation."
Silva F.P., Hamamoto R., Nakamura Y., Furukawa Y.
Neoplasia 7:348-355(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH WDR16.
[13]"Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2."
Xia B., Sheng Q., Nakanishi K., Ohashi A., Wu J., Christ N., Liu X., Jasin M., Couch F.J., Livingston D.M.
Mol. Cell 22:719-729(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PALB2, CHARACTERIZATION OF VARIANTS BC ARG-25; CYS-31 AND ARG-31.
[14]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-755, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[15]"FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3."
Wilson J.B., Yamamoto K., Marriott A.S., Hussain S., Sung P., Hoatlin M.E., Mathew C.G., Takata M., Thompson L.H., Kupfer G.M., Jones N.J.
Oncogene 27:3641-3652(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH FANCD2; FANCG AND XRCC3.
[16]"The checkpoint kinases Chk1 and Chk2 regulate the functional associations between hBRCA2 and Rad51 in response to DNA damage."
Bahassi E.M., Ovesen J.L., Riesenberg A.L., Bernstein W.Z., Hasty P.E., Stambrook P.J.
Oncogene 27:3977-3985(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN RAD51-DEPENDENT DNA REPAIR, PHOSPHORYLATION AT THR-3387 BY CHEK1 AND CHEK2, MUTAGENESIS OF THR-3387, INTERACTION WITH RAD51.
[17]"PALB2 is an integral component of the BRCA complex required for homologous recombination repair."
Sy S.M., Huen M.S., Chen J.
Proc. Natl. Acad. Sci. U.S.A. 106:7155-7160(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A BRCA COMPLEX WITH BRCA1 AND PALB2.
[18]"Human BRCA2 protein promotes RAD51 filament formation on RPA-covered single-stranded DNA."
Liu J., Doty T., Gibson B., Heyer W.D.
Nat. Struct. Mol. Biol. 17:1260-1262(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH RAD51.
[19]"The breast cancer tumor suppressor BRCA2 promotes the specific targeting of RAD51 to single-stranded DNA."
Thorslund T., McIlwraith M.J., Compton S.A., Lekomtsev S., Petronczki M., Griffith J.D., West S.C.
Nat. Struct. Mol. Biol. 17:1263-1265(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBUNIT.
[20]"Purified human BRCA2 stimulates RAD51-mediated recombination."
Jensen R.B., Carreira A., Kowalczykowski S.C.
Nature 467:678-683(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION, INTERACTION WITH RAD51 AND DMC1.
[21]"BRCA2 and nucleophosmin coregulate centrosome amplification and form a complex with the Rho effector kinase ROCK2."
Wang H.F., Takenaka K., Nakanishi A., Miki Y.
Cancer Res. 71:68-77(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH ROCK2 AND NPM1.
[22]"Homologous recombination proteins are associated with centrosomes and are required for mitotic stability."
Cappelli E., Townsend S., Griffin C., Thacker J.
Exp. Cell Res. 317:1203-1213(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[23]"Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair."
Park J.Y., Singh T.R., Nassar N., Zhang F., Freund M., Hanenberg H., Meetei A.R., Andreassen P.R.
Oncogene 0:0-0(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PALB2, IDENTIFICATION IN A PALB2-CONTAINING HR COMPLEX.
[24]"Breast cancer proteins PALB2 and BRCA2 stimulate polymerase eta in recombination-associated DNA synthesis at blocked replication forks."
Buisson R., Niraj J., Pauty J., Maity R., Zhao W., Coulombe Y., Sung P., Masson J.Y.
Cell Rep. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH POLH.
[25]"Insights into DNA recombination from the structure of a RAD51-BRCA2 complex."
Pellegrini L., Yu D.S., Lo T., Anand S., Lee M., Blundell T.L., Venkitaraman A.R.
Nature 420:287-293(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 1519-1551 IN COMPLEX WITH RAD51.
[26]"Structural basis for recruitment of BRCA2 by PALB2."
Oliver A.W., Swift S., Lord C.J., Ashworth A., Pearl L.H.
EMBO Rep. 10:990-996(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 21-39 IN COMPLEX WITH PALB2.
[27]"Mutations of the BRCA2 gene in ovarian carcinomas."
Takahashi H., Chiu H.-C., Bandera C.A., Behbakht K., Liu P.C., Couch F.J., Weber B.L., LiVolsi V.A., Furusato M., Rebane B.A., Cardonick A., Benjamin I., Morgan M.A., King S.A., Mikuta J.J., Rubin S.C., Boyd J.
Cancer Res. 56:2738-2741(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OVARIAN CANCER HIS-2787, VARIANTS ASN-372; MET-1915 AND VAL-2466.
[28]"BRCA2 germline mutations in male breast cancer cases and breast cancer families."
Couch F.J., Farid L.M., Deshano M.L., Tavtigian S.V., Calzone K., Campeau L., Peng Y., Bogden B., Chen Q., Neuhausen S., Shattuck-Eidens D., Godwin A.K., Daly M., Radford D.M., Sedlacek S., Rommens J., Simard J., Garber J., Merajver S., Weber B.L.
Nat. Genet. 13:123-125(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ASN-372; ASP-991; SER-1147; MET-1915 AND CYS-2034.
[29]"BRCA2 mutations in primary breast and ovarian cancers."
Lancaster J.M., Wooster R., Mangion J., Phelan C.M., Cochran C., Gumbs C., Seal S., Barfoot R., Collins N., Bignell G., Patel S., Hamoudi R., Larsson C., Wiseman R.W., Berchuck A., Iglehart J.D., Marks J.R., Ashworth A., Stratton M.R., Futreal P.A.
Nat. Genet. 13:238-240(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GLU-3095.
[30]"Low incidence of BRCA2 mutations in breast carcinoma and other cancers."
Teng D.H.-F., Bogden R., Mitchell J., Baumgard M., Bell R., Berry S., Davis T., Ha P.C., Kehrer R., Jammulapati S., Chen Q., Offit K., Skolnick M.H., Tavtigian S.V., Jhanwar S., Swedlund B., Wong A.K.C., Kamb A.
Nat. Genet. 13:241-244(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS.
[31]"Mutation analysis in the BRCA2 gene in primary breast cancers."
Miki Y., Katagiri T., Kasumi F., Yoshimoto T., Nakamura Y.
Nat. Genet. 13:245-247(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BC ASN-2415.
[32]"A low proportion of BRCA2 mutations in Finnish breast cancer families."
Vehmanen P., Friedman L.S., Eerola H., Sarantaus L., Pyrhoenen S., Ponder B.A.J., Muhonen T., Nevanlinna H.
Am. J. Hum. Genet. 60:1050-1058(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BC ASP-2089, VARIANT VAL-3412.
[33]"High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families."
Ganguly T., Dhulipala R., Godmilow L., Ganguly A.
Hum. Genet. 102:549-556(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BC/PANCREAS CANCER TRP-554.
[34]"High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families."
Katagiri T., Kasumi F., Yoshimoto M., Nomizu T., Asaishi K., Abe R., Tsuchiya A., Sugano M., Takai S., Yoneda M., Fukutomi T., Nanba K., Makita M., Okazaki H., Hirata K., Okazaki M., Furutsuma Y., Morishita Y. expand/collapse author list , Iino Y., Karino T., Ayabe H., Hara S., Kajiwara T., Houga S., Shimizu T., Toda M., Yamazaki Y., Uchida T., Kunitomo K., Sonoo H., Kurebayashi J., Shimotsuma K., Nakamura Y., Miki Y.
J. Hum. Genet. 43:42-48(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC LEU-32; ARG-53; LEU-81; ARG-201; ALA-211; SER-222 AND THR-3118.
[35]"The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes."
Gayther S.A., Russell P., Harrington P., Antoniou A.C., Easton D.F., Ponder B.A.J.
Am. J. Hum. Genet. 65:1021-1029(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OVARIAN CANCER PRO-75; HIS-2502 AND HIS-3098.
[36]"Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan."
Li S.S.-L., Tseng H.-M., Yang T.-P., Liu C.-H., Teng S.-J., Huang H.-W., Chen L.-M., Kao H.-W., Chen J.H., Tseng J.-N., Chen A., Hou M.-F., Huang T.-J., Chang H.-T., Mok K.-T., Tsai J.-H.
Hum. Genet. 104:201-204(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HIS-289; ASN-372; ASP-991 AND VAL-3412.
[37]"Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations."
Wagner T.M.U., Hirtenlehner K., Shen P., Moeslinger R., Muhr D., Fleischmann E., Concin H., Doeller W., Haid A., Lang A.H., Mayer P., Petru E., Ropp E., Langbauer G., Kubista E., Scheiner O., Underhill P., Mountain J. expand/collapse author list , Stierer M., Zielinski C., Oefner P.
Hum. Mol. Genet. 8:413-423(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC, VARIANTS.
[38]"Germline brca2 sequence variants in patients with ocular melanoma."
Sinilnikova O.M., Egan K.M., Quinn J.L., Boutrand L., Lenoir G.M., Stoppa-Lyonnet D., Desjardins L., Levy C., Goldgar D., Gragoudas E.S.
Int. J. Cancer 82:325-328(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BC ARG-326, VARIANT ILE-2728.
[39]"A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability."
Healey C.S., Dunning A.M., Teare M.D., Chase D., Parker L., Burn J., Chang-Claude J., Mannermaa A., Kataja V., Huntsman D.G., Pharoah P.D.P., Luben R.N., Easton D.F., Ponder B.A.J.
Nat. Genet. 26:362-364(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASN-372.
[40]"BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease."
Plaschke J., Commer T., Jacobi C., Schackert H.K., Chang-Claude J.
J. Med. Genet. 37:E17-E17(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC MET-729; ILE-2515 AND ILE-2728, VARIANTS HIS-289; ASN-372; ASP-991; MET-1915 AND VAL-3412.
[41]"BRCA2 germline mutations in male breast cancer patients in the Polish population."
Kwiatkowska E., Teresiak M., Lamperska K.M., Karczewska A., Breborowicz D., Stawicka M., Godlewski D., Krzyzosiak W.J., Mackiewicz A.
Hum. Mutat. 17:73-73(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC ASN-1179; ILE-3124 AND GLU-3196, VARIANT TYR-1420.
[42]"An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD)."
Edwards S.M., Kote-Jarai Z., Hamoudi R., Eeles R.A.
Hum. Mutat. 17:220-232(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC THR-505; TYR-1730; HIS-2135 AND CYS-2222, VARIANT LYS-1880.
[43]"BRCA2 T2722R is a deleterious allele that causes exon skipping."
Fackenthal J.D., Cartegni L., Krainer A.R., Olopade O.I.
Am. J. Hum. Genet. 71:625-631(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BC ARG-2722.
[44]Erratum
Fackenthal J.D., Cartegni L., Krainer A.R., Olopade O.I.
Am. J. Hum. Genet. 73:1477-1477(2002)
[45]"BRCA2 gene mutations in families with aggregations of breast and stomach cancers."
Jakubowska A., Nej K., Huzarski T., Scott R.J., Lubinski J.
Br. J. Cancer 87:888-891(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC CYS-2072; CYS-2094 AND ASN-2128.
[46]"Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%."
Murphy K.M., Brune K.A., Griffin C., Sollenberger J.E., Petersen G.M., Bansal R., Hruban R.H., Kern S.E.
Cancer Res. 62:3789-3793(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT THR-192.
[47]"Infrequent mutation in the BRCA2 gene in esophageal squamous cell carcinoma."
Hu N., Li G., Li W.-J., Wang C., Goldstein A.M., Tang Z.-Z., Roth M.J., Dawsey S.M., Huang J., Wang Q.-H., Ding T., Giffen C., Taylor P.R., Emmert-Buck M.R.
Clin. Cancer Res. 8:1121-1126(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HIS-118; SER-315; ILE-1988; CYS-2842 AND SER-3300.
[48]"Characterization of common BRCA1 and BRCA2 variants."
Deffenbaugh A.M., Frank T.S., Hoffman M., Cannon-Albright L., Neuhausen S.L.
Genet. Test. 6:119-121(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ALA-598; TYR-1420; CYS-2034; ILE-2728 AND THR-2951.
[49]"BRCA1 and BRCA2 in Indian breast cancer patients."
Saxena S., Szabo C.I., Chopin S., Barjhoux L., Sinilnikova O., Lenoir G., Goldgar D.E., Bhatanager D.
Hum. Mutat. 20:473-474(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ASP-1593 AND SER-2706.
[50]"BRCA1 and BRCA2 sequence variants in Chinese breast cancer families."
Zhi X., Szabo C., Chopin S., Suter N., Wang Q.-S., Ostrander E.A., Sinilnikova O.M., Lenoir G.M., Goldgar D., Shi Y.-R.
Hum. Mutat. 20:474-474(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BC ASN-2729, VARIANT VAL-3412.
[51]"BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico."
Ruiz-Flores P., Sinilnikova O.M., Badzioch M., Calderon-Garciduenas A.L., Chopin S., Fabrice O., Gonzalez-Guerrero J.F., Szabo C., Lenoir G., Goldgar D.E., Barrera-Saldana H.A.
Hum. Mutat. 20:474-475(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC CYS-42; ARG-613; LEU-2118; LEU-2293 AND ARG-2793, VARIANT ILE-3374.
[52]"Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer."
Kwiatkowska E., Teresiak M., Breborowicz D., Mackiewicz A.
Int. J. Cancer 98:943-945(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC TYR-1580 AND MET-1915.
[53]"Biallelic inactivation of BRCA2 in Fanconi anemia."
Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q., de Die-Smulders C., Persky N., Grompe M., Joenje H., Pals G., Ikeda H., Fox E.A., D'Andrea A.D.
Science 297:606-609(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN FANCD1.
[54]"BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer."
Hadjisavvas A., Charalambous E., Adamou A., Christodoulou C.G., Kyriacou K.
Hum. Mutat. 21:171-171(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HIS-289; ASN-372; GLY-462; ASP-991; SER-1279; TYR-1420; ASP-1771 AND VAL-2466.
[55]"Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany."
Meyer P., Voigtlaender T., Bartram C.R., Klaes R.
Hum. Mutat. 22:259-259(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC ILE-431; LYS-1036; ARG-1106 AND VAL-1524.
[56]"Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2genes in familial breast cancer."
Sakayori M., Kawahara M., Shiraishi K., Nomizu T., Shimada A., Kudo T., Abe R., Ohuchi N., Takenoshita S., Kanamaru R., Ishioka C.
J. Hum. Genet. 48:130-137(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PRO-582; PHE-1522 AND VAL-2044.
[57]"BRCA2 germline mutations in familial pancreatic carcinoma."
Hahn S.A., Greenhalf B., Ellis I., Sina-Frey M., Rieder H., Korte B., Gerdes B., Kress R., Ziegler A., Raeburn J.A., Campra D., Gruetzmann R., Rehder H., Rothmund M., Schmiegel W., Neoptolemos J.P., Bartsch D.K.
J. Natl. Cancer Inst. 95:214-221(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CYS-2034 AND GLU-3076.
[58]"Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood."
Hirsch B., Shimamura A., Moreau L., Baldinger S., Hag-alshiekh M., Bostrom B., Sencer S., D'Andrea A.D.
Blood 103:2554-2559(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FANCD1 PRO-2510.
[59]"BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families."
Claes K., Poppe B., Coene I., De Paepe A., Messiaen L.
Br. J. Cancer 90:1244-1251(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC SER-60; ARG-405; HIS-448; GLY-462; GLY-2275; ARG-2353; LYS-2488; HIS-2723; ASN-2950; ILE-3013 AND HIS-3098, VARIANTS ASP-991; ALA-2856 AND VAL-3412.
[60]"Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation."
Hadjisavvas A., Charalambous E., Adamou A., Neuhausen S.L., Christodoulou C.G., Kyriacou K.
Cancer Genet. Cytogenet. 151:152-156(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC ILE-64; GLY-462; ASN-1690; ASP-1771; MET-1887; MET-1915 AND GLU-2456, VARIANTS HIS-289; ASN-372; ASP-991; SER-1279; TYR-1420; CYS-2108 AND VAL-2466.
[61]"One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden."
Malander S., Ridderheim M., Masbaeck A., Loman N., Kristoffersson U., Olsson H., Nilbert M., Borg A.
Eur. J. Cancer 40:422-428(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OVARIAN CANCER CYS-42, VARIANTS SER-3063 AND VAL-3412.
[62]"Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families."
Valarmathi M.T., Sawhney M., Deo S.S.V., Shukla N.K., Das S.N.
Hum. Mutat. 23:205-205(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC ILE-1679; ALA-1804; LYS-1901 AND LEU-2096.
[63]"RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1."
Sharp A., Pichert G., Lucassen A., Eccles D.
Hum. Mutat. 24:272-272(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ALA-225, CHARACTERIZATION OF VARIANT ALA-225.
[64]"BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer."
Seo J.H., Cho D.-Y., Ahn S.-H., Yoon K.-S., Kang C.-S., Cho H.M., Lee H.S., Choe J.J., Choi C.W., Kim B.S., Shin S.W., Kim Y.H., Kim J.S., Son G.-S., Lee J.-B., Koo B.H.
Hum. Mutat. 24:350-350(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BC THR-1445; VAL-1929 AND ALA-2031, VARIANTS HIS-289; ASN-372; VAL-784; ASP-991 AND VAL-3412.
[65]"Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases."
Kim S.-W., Lee C.S., Fey J.V., Borgen P.I., Boyd J.
J. Med. Genet. 42:E5-E5(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LEU-1172; TYR-1420; PHE-2944; ASN-2950 AND ILE-3013.
[66]"A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes."
Easton D.F., Deffenbaugh A.M., Pruss D., Frye C., Wenstrup R.J., Allen-Brady K., Tavtigian S.V., Monteiro A.N.A., Iversen E.S., Couch F.J., Goldgar D.E.
Am. J. Hum. Genet. 81:873-883(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HIS-2336; CYS-2502; CYS-2626; PHE-2627; PRO-2653; LYS-2659; VAL-2663; ARG-2722; GLY-2723; ASP-2748 AND GLU-3095.
[67]"Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2."
Alter B.P., Rosenberg P.S., Brody L.C.
J. Med. Genet. 44:1-9(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FANCD1 HIS-2336 AND CYS-2626.
[68]"Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity."
Walker L.C., Whiley P.J., Couch F.J., Farrugia D.J., Healey S., Eccles D.M., Lin F., Butler S.A., Goff S.A., Thompson B.A., Lakhani S.R., Da Silva L.M., Tavtigian S.V., Goldgar D.E., Brown M.A., Spurdle A.B.
Hum. Mutat. 31:E1484-E1505(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS VAL-2663; GLY-2723 AND TRP-3052.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X95152 expand/collapse EMBL AC list , X95153, X95154, X95155, X95156, X95157, X95158, X95159, X95160, X95161, X95162, X95163, X95164, X95165, X95166, X95167, X95168, X95169, X95170, X95171, X95172, X95173, X95174, X95175, X95176, X95177 Genomic DNA. Translation: CAA64484.1.
U43746 mRNA. Translation: AAB07223.1.
AY436640 Genomic DNA. Translation: AAQ97181.1.
AL137247, AL445212 Genomic DNA. Translation: CAI13195.1.
AL445212, AL137247 Genomic DNA. Translation: CAI40479.1.
Z74739 Genomic DNA. Translation: CAA98995.2.
Z73359 Genomic DNA. Translation: CAA97728.1.
PIRG02334.
RefSeqNP_000050.2. NM_000059.3.
UniGeneHs.34012.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1N0WX-ray1.70B1517-1551[»]
3EU7X-ray2.20X21-39[»]
ProteinModelPortalP51587.
SMRP51587. Positions 1519-1551, 2479-3184.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107142. 56 interactions.
DIPDIP-24214N.
IntActP51587. 21 interactions.
MINTMINT-1540184.
STRING9606.ENSP00000369497.

PTM databases

PhosphoSiteP51587.

Polymorphism databases

DMDM14424438.

Proteomic databases

PaxDbP51587.
PRIDEP51587.

Protocols and materials databases

DNASU675.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000380152; ENSP00000369497; ENSG00000139618.
ENST00000544455; ENSP00000439902; ENSG00000139618.
GeneID675.
KEGGhsa:675.
UCSCuc001uub.1. human.

Organism-specific databases

CTD675.
GeneCardsGC13P032889.
HGNCHGNC:1101. BRCA2.
HPAHPA026815.
HPA056112.
MIM114480. phenotype.
227650. phenotype.
600185. gene.
605724. phenotype.
612555. phenotype.
613029. phenotype.
613347. phenotype.
neXtProtNX_P51587.
Orphanet1333. Familial pancreatic carcinoma.
1331. Familial prostate cancer.
84. Fanconi anemia.
145. Hereditary breast and ovarian cancer syndrome.
227535. Hereditary breast cancer.
213524. Hereditary site-specific ovarian cancer syndrome.
319462. Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations.
PharmGKBPA25412.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331296.
HOGENOMHOG000139693.
HOVERGENHBG050731.
InParanoidP51587.
KOK08775.
OrthoDBEOG75TMB1.
PhylomeDBP51587.
TreeFamTF105041.

Enzyme and pathway databases

ReactomeREACT_111183. Meiosis.
REACT_216. DNA Repair.
SignaLinkP51587.

Gene expression databases

ArrayExpressP51587.
BgeeP51587.
CleanExHS_BRCA2.
GenevestigatorP51587.

Family and domain databases

Gene3D2.40.50.140. 4 hits.
InterProIPR015525. BRCA2.
IPR015187. BRCA2_OB_1.
IPR015188. BRCA2_OB_3.
IPR002093. BRCA2_repeat.
IPR015252. DNA_recomb/repair_BRCA2_hlx.
IPR012340. NA-bd_OB-fold.
IPR015205. Tower.
[Graphical view]
PANTHERPTHR11289. PTHR11289. 1 hit.
PfamPF09169. BRCA-2_helical. 1 hit.
PF09103. BRCA-2_OB1. 1 hit.
PF09104. BRCA-2_OB3. 1 hit.
PF00634. BRCA2. 8 hits.
PF09121. Tower. 1 hit.
[Graphical view]
PIRSFPIRSF002397. BRCA2. 1 hit.
SUPFAMSSF50249. SSF50249. 4 hits.
SSF81872. SSF81872. 1 hit.
PROSITEPS50138. BRCA2_REPEAT. 8 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP51587.
GeneWikiBRCA2.
GenomeRNAi675.
NextBio2780.
PROP51587.
SOURCESearch...

Entry information

Entry nameBRCA2_HUMAN
AccessionPrimary (citable) accession number: P51587
Secondary accession number(s): O00183 expand/collapse secondary AC list , O15008, Q13879, Q5TBJ7
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: June 20, 2001
Last modified: April 16, 2014
This is version 162 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM