P51587 (BRCA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Breast cancer type 2 susceptibility protein

Alternative name(s):
Fanconi anemia group D1 protein

Gene names

Name:	BRCA2
Synonyms:	FACD, FANCD1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	3418 AA.
Sequence status	Complete.
Protein existence	Evidence 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. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. In concert with NPM1, regulates centrosome duplication. Ref.6 Ref.7 Ref.10 Ref.16 Ref.18 Ref.19 Ref.20 Ref.21
Subunit structure	Monomer and dimer. Interacts with RAD51; regulates RAD51 recruitment and function at sites of DNA repair. Interacts with DSS1. Interacts with both nonubiquitinated and monoubiquitinated FANCD2; this complex also includes XRCC3 and phosphorylated FANCG. Interacts with WDR16. Interacts with USP11. Interacts with DMC1. Part of a trimeric complex containing BRCA1, BRCA2 and PALB2. Interacts with PALB2. Interacts with BRCA1 only in the presence of PALB2 which serves as the bridging protein. Interacts with ROCK2 and NPM1. 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
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.28 Ref.29 Ref.30 Ref.31 Ref.34 Ref.35 Ref.37 Ref.38 Ref.39 Ref.40 Ref.42 Ref.47 Ref.48 Ref.49 Ref.52 Ref.56 Ref.57 Ref.59 Ref.61 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 Familial breast-ovarian cancer 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.50 Ref.55 Ref.64 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 process	Cell cycle DNA damage DNA recombination DNA repair
Coding sequence diversity	Polymorphism
Disease	Disease mutation Fanconi anemia Tumor suppressor
Domain	Repeat
Ligand	DNA-binding
PTM	Phosphoprotein Ubl conjugation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Inferred from electronic annotation. Source: Compara brain development Inferred from electronic annotation. Source: Compara cell aging Inferred from electronic annotation. Source: Compara cell cycle cytokinesis Inferred from direct assay PubMed 17286961. Source: UniProtKB centrosome duplication Inferred from mutant phenotype PubMed 17286961. 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: Compara hemopoiesis Inferred from electronic annotation. Source: Compara inner cell mass cell proliferation Inferred from electronic annotation. Source: Compara intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator Inferred from electronic annotation. Source: Compara male meiosis I Inferred from electronic annotation. Source: Compara 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: Compara positive regulation of mitotic cell cycle Inferred from electronic annotation. Source: Compara positive regulation of transcription, DNA-dependent Inferred from direct assay PubMed 9126734. Source: UniProtKB regulation of S phase of mitotic cell cycle Inferred from electronic annotation. Source: InterPro regulation of cytokinesis Inferred from electronic annotation. Source: Compara replication fork protection Inferred from electronic annotation. Source: Compara response to UV-C Inferred from electronic annotation. Source: Compara response to X-ray Inferred from electronic annotation. Source: Compara response to gamma radiation Inferred from electronic annotation. Source: Compara spermatogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	BRCA2-MAGE-D1 complex Inferred from direct assay PubMed 15930293. Source: UniProtKB centrosome Inferred from direct assay PubMed 17286961. Source: UniProtKB nucleoplasm Traceable author statement. Source: Reactome secretory granule Inferred from direct assay PubMed 8589722. Source: UniProtKB
Molecular_function	H3 histone acetyltransferase activity Inferred from direct assay PubMed 9619837. Source: UniProtKB H4 histone acetyltransferase activity Inferred from direct assay PubMed 9619837. Source: UniProtKB single-stranded DNA binding Inferred from direct assay Ref.20. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FANCD2	Q9BXW9	16	EBI-79792,EBI-359343
FANCD2	Q9BXW9-2	3	EBI-79792,EBI-596878
HMG20B	Q9P0W2	8	EBI-79792,EBI-713401
RAD51	Q06609	19	EBI-79792,EBI-297202
SHFM1	P60896	4	EBI-79792,EBI-79819

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 3418

3418

Breast cancer type 2 susceptibility protein

PRO_0000064984

Regions

Repeat

1002 – 1036

35

BRCA2 1

Repeat

1212 – 1246

35

BRCA2 2

Repeat

1421 – 1455

35

BRCA2 3

Repeat

1517 – 1551

35

BRCA2 4

Repeat

1664 – 1698

35

BRCA2 5

Repeat

1837 – 1871

35

BRCA2 6

Repeat

1971 – 2005

35

BRCA2 7

Repeat

2051 – 2085

35

BRCA2 8

Region

1 – 40

40

Interaction with PALB2

Region

639 – 1000

362

Interaction with NPM1

Region

2350 – 2545

196

Interaction with FANCD2

Amino acid modifications

Modified residue

755

1

Phosphoserine Ref.14

Modified residue

3291

1

Phosphoserine; by CDK1 and CDK2 Ref.11

Modified residue

3387

1

Phosphothreonine; by CHEK1 and CHEK2 Ref.16

Natural variations

Natural variant

25

1

G → R in BC; abolishes interaction with PALB2. Ref.13

VAR_028167

Natural variant

31

1

W → C in BC; abolishes interaction with PALB2. Ref.13

VAR_028168

Natural variant

31

1

W → R in BC; abolishes interaction with PALB2. Ref.13

VAR_028169

Natural variant

32

1

F → L in BC. Ref.31

VAR_005085

Natural variant

42

1

Y → C in BC and ovarian cancer; unknown pathological significance. Ref.48 Ref.58
Corresponds to variant rs4987046 [ dbSNP | Ensembl ].

VAR_020705

Natural variant

53

1

K → R in BC. Ref.31

VAR_005086

Natural variant

60

1

N → S in BC; unknown pathological significance. Ref.56

VAR_020706

Natural variant

64

1

T → I in BC. Ref.57

VAR_032712

Natural variant

75

1

A → P in ovarian cancer and renal cancer; unknown pathological significance. Ref.32
Corresponds to variant rs28897701 [ dbSNP | Ensembl ].

VAR_005087

Natural variant

81

1

F → L in BC. Ref.31

VAR_005088

Natural variant

108

1

N → H.

VAR_008766

Natural variant

118

1

R → H in one patient with esophageal carcinoma. Ref.44

VAR_032713

Natural variant

192

1

M → T in one patient with pancreatic cancer. Ref.43

VAR_032714

Natural variant

201

1

P → R in BC. Ref.31

VAR_005089

Natural variant

211

1

V → A in BC. Ref.31

VAR_005090

Natural variant

222

1

P → S in BC. Ref.31

VAR_005091

Natural variant

225

1

T → A in one patient with BC; normal RNA expression and splicing. Ref.60

VAR_032715

Natural variant

289

1

N → H Common polymorphism; was originally thought to be linked to ovarian cancer. Ref.3 Ref.33 Ref.37 Ref.51 Ref.57 Ref.61
Corresponds to variant rs766173 [ dbSNP | Ensembl ].

VAR_005092

Natural variant

315

1

C → S in one patient with esophageal carcinoma. Ref.44

VAR_032716

Natural variant

322

1

K → Q. Ref.3
Corresponds to variant rs11571640 [ dbSNP | Ensembl ].

VAR_018908

Natural variant

326

1

S → R in BC. Ref.35
Corresponds to variant rs28897706 [ dbSNP | Ensembl ].

VAR_032717

Natural variant

327

1

K → E in BC; unknown pathological significance.

VAR_008767

Natural variant

355

1

V → L in lung cancer.

VAR_005093

Natural variant

372

1

H → 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.24 Ref.25 Ref.33 Ref.36 Ref.37 Ref.51 Ref.57 Ref.61
Corresponds to variant rs144848 [ dbSNP | Ensembl ].

VAR_005094

Natural variant

405

1

G → R in BC; unknown pathological significance. Ref.56

VAR_020707

Natural variant

431

1

T → I in BC; unknown pathological significance. Ref.52

VAR_020708

Natural variant

448

1

R → H in BC; unknown pathological significance. Ref.56

VAR_020709

Natural variant

462

1

E → G in BC; unknown pathological significance. Ref.51 Ref.56 Ref.57
Corresponds to variant rs56403624 [ dbSNP | Ensembl ].

VAR_020710

Natural variant

505

1

I → T in BC. Ref.39
Corresponds to variant rs28897708 [ dbSNP | Ensembl ].

VAR_032718

Natural variant

513

1

K → R.
Corresponds to variant rs28897709 [ dbSNP | Ensembl ].

VAR_056751

Natural variant

554

1

C → W in BC and pancreas cancer. Ref.30

VAR_005095

Natural variant

582

1

T → P. Ref.53

VAR_008768

Natural variant

598

1

T → A. Ref.45
Corresponds to variant rs28897710 [ dbSNP | Ensembl ].

VAR_020711

Natural variant

599

1

S → F. Ref.2
Corresponds to variant rs1046984 [ dbSNP | Ensembl ].

VAR_035436

Natural variant

613

1

L → R in BC; unknown pathological significance. Ref.48

VAR_020712

Natural variant

630

1

T → I in ovarian cancer.

VAR_005096

Natural variant

707

1

D → Y.

VAR_008769

Natural variant

728

1

D → A in BC.

VAR_005097

Natural variant

729

1

I → M in BC. Ref.37

VAR_032719

Natural variant

784

1

M → V. Ref.3 Ref.61
Corresponds to variant rs11571653 [ dbSNP | Ensembl ].

VAR_008770

Natural variant

886

1

N → I.

VAR_008771

Natural variant

929

1

L → S. Ref.3
Corresponds to variant rs2227943 [ dbSNP | Ensembl ].

VAR_018909

Natural variant

935

1

D → N in BC; unknown pathological significance.
Corresponds to variant rs28897716 [ dbSNP | Ensembl ].

VAR_008772

Natural variant

976

1

S → F. Ref.3
Corresponds to variant rs11571656 [ dbSNP | Ensembl ].

VAR_018910

Natural variant

982

1

I → L.
Corresponds to variant rs28897717 [ dbSNP | Ensembl ].

VAR_056752

Natural variant

987

1

N → I. Ref.3
Corresponds to variant rs2227944 [ dbSNP | Ensembl ].

VAR_018911

Natural variant

991

1

N → D Common polymorphism. Ref.3 Ref.25 Ref.33 Ref.37 Ref.51 Ref.56 Ref.57 Ref.61
Corresponds to variant rs1799944 [ dbSNP | Ensembl ].

VAR_005098

Natural variant

1036

1

E → K in BC; unknown pathological significance. Ref.52

VAR_020713

Natural variant

1106

1

S → R in BC; unknown pathological significance. Ref.52

VAR_020714

Natural variant

1147

1

N → S. Ref.25
Corresponds to variant rs1799951 [ dbSNP | Ensembl ].

VAR_005099

Natural variant

1172

1

S → L in BC; unknown pathological significance. Ref.62

VAR_032720

Natural variant

1179

1

S → N in BC. Ref.38

VAR_020715

Natural variant

1279

1

N → S. Ref.51 Ref.57

VAR_020716

Natural variant

1286

1

Missing.

VAR_008773

Natural variant

1290

1

C → Y.

VAR_008774

Natural variant

1302

1

Missing in BC.

VAR_005100

Natural variant

1414

1

T → M.

VAR_008775

Natural variant

1420

1

D → Y. Ref.38 Ref.45 Ref.51 Ref.57 Ref.62

VAR_008776

Natural variant

1445

1

K → T in BC; unknown pathological significance. Ref.61

VAR_020717

Natural variant

1513

1

D → N.

VAR_008777

Natural variant

1522

1

L → F in one patient with BC. Ref.53

VAR_032721

Natural variant

1524

1

F → V in BC; unknown pathological significance. Ref.52

VAR_020718

Natural variant

1529

1

G → R in bladder cancer.

VAR_005101

Natural variant

1542

1

V → M.
Corresponds to variant rs28897729 [ dbSNP | Ensembl ].

VAR_056753

Natural variant

1561

1

H → N. Ref.3

VAR_018912

Natural variant

1580

1

C → Y in BC; somatic mutation. Ref.49

VAR_020719

Natural variant

1593

1

E → D. Ref.46

VAR_008778

Natural variant

1643

1

V → A.
Corresponds to variant rs28897731 [ dbSNP | Ensembl ].

VAR_056754

Natural variant

1679

1

T → I in BC. Ref.59

VAR_020720

Natural variant

1690

1

K → N in BC. Ref.57

VAR_032722

Natural variant

1730

1

N → Y in BC. Ref.39

VAR_032723

Natural variant

1771

1

G → D in BC; unknown pathological significance. Ref.51 Ref.57

VAR_008779

Natural variant

1804

1

V → A in BC. Ref.59

VAR_020721

Natural variant

1805

1

N → S.

VAR_008780

Natural variant

1880

1

N → K Polymorphism; was originally thought to be linked to breast cancer. Ref.3 Ref.39
Corresponds to variant rs11571657 [ dbSNP | Ensembl ].

VAR_005102

Natural variant

1887

1

T → M in BC. Ref.57

VAR_032724

Natural variant

1901

1

E → K in BC. Ref.59

VAR_020722

Natural variant

1902

1

D → N.

VAR_008781

Natural variant

1915

1

T → M May be a rare polymorphism; somatic mutation. Ref.3 Ref.24 Ref.25 Ref.37 Ref.49 Ref.57
Corresponds to variant rs4987117 [ dbSNP | Ensembl ].

VAR_005103

Natural variant

1929

1

I → V in BC; unknown pathological significance. Ref.61

VAR_020723

Natural variant

1979

1

S → R.
Corresponds to variant rs28897737 [ dbSNP | Ensembl ].

VAR_056755

Natural variant

1988

1

V → I in one patient with esophageal carcinoma; somatic mutation. Ref.44

VAR_032725

Natural variant

2031

1

T → A in BC; unknown pathological significance. Ref.61

VAR_020724

Natural variant

2034

1

R → C. Ref.25 Ref.45 Ref.54
Corresponds to variant rs1799954 [ dbSNP | Ensembl ].

VAR_005104

Natural variant

2044

1

G → V in one patient with BC. Ref.53

VAR_032726

Natural variant

2072

1

S → C in BC. Ref.42

VAR_020725

Natural variant

2074

1

H → N.

VAR_008782

Natural variant

2089

1

E → D in BC. Ref.29

VAR_008783

Natural variant

2094

1

Y → C in BC. Ref.42

VAR_020726

Natural variant

2096

1

P → L in BC. Ref.59

VAR_020727

Natural variant

2108

1

R → C. Ref.57

VAR_032727

Natural variant

2116

1

H → R.
Corresponds to variant rs55953736 [ dbSNP | Ensembl ].

VAR_061563

Natural variant

2118

1

V → L in BC; unknown pathological significance. Ref.48

VAR_020728

Natural variant

2128

1

K → N in BC. Ref.42

VAR_020729

Natural variant

2135

1

N → H in BC. Ref.39

VAR_032728

Natural variant

2138

1

V → F. Ref.3

VAR_008784

Natural variant

2162

1

K → R. Ref.3

VAR_018913

Natural variant

2222

1

Y → C in BC. Ref.39

VAR_032729

Natural variant

2238

1

D → E.
Corresponds to variant rs28897742 [ dbSNP | Ensembl ].

VAR_056756

Natural variant

2274

1

G → V in BC.

VAR_005105

Natural variant

2275

1

E → G in BC; unknown pathological significance. Ref.56

VAR_020730

Natural variant

2293

1

F → L in BC; unknown pathological significance. Ref.48

VAR_020731

Natural variant

2336

1

R → H in FANCD1. Ref.63 Ref.64

VAR_032730

Natural variant

2336

1

R → Q.
Corresponds to variant rs28897743 [ dbSNP | Ensembl ].

VAR_056757

Natural variant

2353

1

G → R in BC; unknown pathological significance. Ref.56

VAR_020732

Natural variant

2415

1

H → N in BC. Ref.28

VAR_005106

Natural variant

2421

1

Q → H in BC.

VAR_005107

Natural variant

2440

1

H → R. Ref.3

VAR_018914

Natural variant

2447

1

N → D.
Corresponds to variant rs4986859 [ dbSNP | Ensembl ].

VAR_056758

Natural variant

2456

1

Q → E in BC. Ref.57

VAR_032731

Natural variant

2466

1

A → V Polymorphism; was originally thought to be linked to ovarian cancer. Ref.3 Ref.4 Ref.24 Ref.51 Ref.57

VAR_008785

Natural variant

2480

1

L → V.

VAR_008786

Natural variant

2488

1

R → K in BC; unknown pathological significance. Ref.56

VAR_020733

Natural variant

2490

1

I → T. Ref.3

VAR_008787

Natural variant

2502

1

R → C in BC; unknown pathological significance. Ref.63

VAR_063911

Natural variant

2502

1

R → H in ovarian cancer; unknown pathological significance. Ref.32

VAR_008788

Natural variant

2510

1

L → P in FANCD1. Ref.55

VAR_032732

Natural variant

2515

1

T → I in BC; unknown pathological significance. Ref.37

VAR_008789

Natural variant

2626

1

W → C in FANCD1. Ref.63 Ref.64

VAR_032733

Natural variant

2627

1

I → F in BC; unknown pathological significance. Ref.63

VAR_063912

Natural variant

2653

1

L → P in BC; unknown pathological significance. Ref.63

VAR_063913

Natural variant

2659

1

R → K in BC; unknown pathological significance. Ref.63

VAR_063914

Natural variant

2663

1

E → V Could be associated with cancer susceptibility; major splicing aberration identified with this mutant; multifactorial likelihood analysis provides evidence for pathogenicity. Ref.63 Ref.65

VAR_063915

Natural variant

2686

1

L → P.
Corresponds to variant rs28897746 [ dbSNP | Ensembl ].

VAR_056759

Natural variant

2706

1

N → S. Ref.46

VAR_020734

Natural variant

2722

1

T → R in BC. Ref.40 Ref.63

VAR_018661

Natural variant

2723

1

D → G Could be associated with cancer susceptibility; has abrogated function consistent with pathogenicity; major splicing aberration identified with this mutant. Ref.63 Ref.65

VAR_063916

Natural variant

2723

1

D → H in BC; unknown pathological significance. Ref.56

VAR_020735

Natural variant

2728

1

V → I in BC. Ref.35 Ref.37 Ref.45

VAR_020736

Natural variant

2729

1

K → N in BC. Ref.47

VAR_020737

Natural variant

2748

1

G → D in BC; unknown pathological significance. Ref.63

VAR_063917

Natural variant

2787

1

R → H in ovarian cancer; somatic mutation. Ref.24

VAR_008790

Natural variant

2792

1

L → P.
Corresponds to variant rs28897751 [ dbSNP | Ensembl ].

VAR_056760

Natural variant

2793

1

G → R in BC; unknown pathological significance. Ref.48

VAR_020738

Natural variant

2835

1

S → P. Ref.3

VAR_018915

Natural variant

2842

1

R → C in one patient with esophageal carcinoma; somatic mutation. Ref.44

VAR_032734

Natural variant

2856

1

E → A. Ref.3 Ref.56

VAR_018916

Natural variant

2944

1

I → F. Ref.3 Ref.62

VAR_008791

Natural variant

2950

1

K → N in BC; unknown pathological significance. Ref.56 Ref.62

VAR_020739

Natural variant

2951

1

A → T. Ref.3 Ref.45

VAR_008792

Natural variant

2969

1

V → M.

VAR_008793

Natural variant

3013

1

T → I in BC; unknown pathological significance. Ref.56 Ref.62

VAR_020740

Natural variant

3052

1

R → W Could be associated with cancer susceptibility; has abrogated function consistent with pathogenicity; multifactorial likelihood analysis provides evidence for pathogenicity. Ref.65

VAR_063918

Natural variant

3063

1

P → S in a patient with ovarian cancer; unknown pathological significance. Ref.58

VAR_020741

Natural variant

3076

1

G → E. Ref.54

VAR_020742

Natural variant

3095

1

D → E in BC; unknown pathological significance. Ref.26 Ref.63

VAR_005108

Natural variant

3098

1

Y → H in BC and ovarian cancer; unknown pathological significance. Ref.32 Ref.56

VAR_008794

Natural variant

3101

1

L → R.
Corresponds to variant rs28897758 [ dbSNP | Ensembl ].

VAR_056761

Natural variant

3103

1

I → M in melanoma.

VAR_005109

Natural variant

3118

1

M → T in BC. Ref.31

VAR_005110

Natural variant

3124

1

N → I in BC. Ref.38

VAR_020743

Natural variant

3196

1

K → E in BC. Ref.38

VAR_020744

Natural variant

3244

1

V → I. Ref.3

VAR_018917

Natural variant

3257

1

K → R.

VAR_008795

Natural variant

3276

1

R → S.

VAR_008796

Natural variant

3300

1

P → S in one patient with esophageal carcinoma. Ref.44

VAR_032735

Natural variant

3357

1

T → R in BC.

VAR_005111

Natural variant

3374

1

T → I. Ref.48

VAR_020745

Natural variant

3412

1

I → V Polymorphism; was originally thought to be associated with breast cancer. Ref.3 Ref.29 Ref.33 Ref.37 Ref.47 Ref.56 Ref.58 Ref.61
Corresponds to variant rs1801426 [ dbSNP | Ensembl ].

VAR_005112

Experimental info

Mutagenesis

3291

1

S → E: Impaired interaction with RAD51. Ref.11

Mutagenesis

3387

1

T → A: Loss of phosphorylation by CHEK1 and CHEK2 (in vitro). Ref.16

Sequence conflict

758

1

S → N in CAA64484. Ref.1

Sequence conflict

1761 – 1762

2

GY → RI in CAA64484. Ref.1

Sequence conflict

1767

1

K → N in CAA64484. Ref.1

Sequence conflict

2536

1

S → P in CAA98995. Ref.4

Sequence conflict

3216

1

L → LVS in CAA97728. Ref.4

Secondary structure

1

.

.

.

.

.

.

.

.

3418

Helix Strand Turn

Details...

Helix

31 – 35

5

Helix

1520 – 1522

3

Helix

1536 – 1541

6

Turn

1542 – 1546

5

Sequences

	Sequence		Length	Mass (Da)
	P51587 [UniParc]. Last modified June 20, 2001. Version 2. Checksum: 2D14D996FD8241C2	FASTA	3,418	384,225
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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, MASS SPECTROMETRY. 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 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]	"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.
[23]	"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.
[24]	"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.
[25]	"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.
[26]	"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.
[27]	"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.
[28]	"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.
[29]	"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.
[30]	"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.
[31]	"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. , 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.
[32]	"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.
[33]	"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.
[34]	"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. , Stierer M., Zielinski C., Oefner P. Hum. Mol. Genet. 8:413-423(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BC, VARIANTS.
[35]	"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.
[36]	"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.
[37]	"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.
[38]	"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.
[39]	"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.
[40]	"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.
[41]	Erratum Fackenthal J.D., Cartegni L., Krainer A.R., Olopade O.I. Am. J. Hum. Genet. 73:1477-1477(2002)
[42]	"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.
[43]	"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.
[44]	"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.
[45]	"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.
[46]	"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.
[47]	"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.
[48]	"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.
[49]	"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.
[50]	"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.
[51]	"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.
[52]	"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.
[53]	"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.
[54]	"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.
[55]	"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.
[56]	"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.
[57]	"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.
[58]	"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.
[59]	"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.
[60]	"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.
[61]	"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.
[62]	"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.
[63]	"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.
[64]	"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.
[65]	"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.

Web resources

Fanconi Anemia Mutation Database

GeneReviews

NIEHS-SNPs

Wikipedia

BRCA2 entry

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

X95152 , 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.

IPI

IPI00412408.

PIR

G02334.

RefSeq

NP_000050.2. NM_000059.3.

UniGene

Hs.34012.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1N0W	X-ray	1.70	B	1517-1551	[»]
3EU7	X-ray	2.20	X	21-39	[»]

ProteinModelPortal

P51587.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-24214N.

IntAct

P51587. 10 interactions.

MINT

MINT-1540184.

STRING

9606.ENSP00000369497.

PTM databases

PhosphoSite

P51587.

Polymorphism databases

DMDM

14424438.

Proteomic databases

PaxDb

P51587.

PRIDE

P51587.

Protocols and materials databases

DNASU

675.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000380152; ENSP00000369497; ENSG00000139618.
ENST00000544455; ENSP00000439902; ENSG00000139618.

GeneID

675.

KEGG

hsa:675.

UCSC

uc001uub.1. human.

Organism-specific databases

CTD

675.

GeneCards

GC13P032889.

HGNC

HGNC:1101. BRCA2.

HPA

HPA026815.

MIM

114480. phenotype.
227650. phenotype.
600185. gene.
605724. phenotype.
612555. phenotype.
613029. phenotype.
613347. phenotype.

neXtProt

NX_P51587.

Orphanet

1333. Familial pancreatic carcinoma.
1331. Familial prostate cancer.
84. Fanconi anemia.
145. Hereditary breast and ovarian cancer syndrome.
319462. Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations.

PharmGKB

PA25412.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG331296.

HOGENOM

HOG000139693.

HOVERGEN

HBG050731.

InParanoid

P51587.

KO

K08775.

OrthoDB

EOG4ZCT3K.

Enzyme and pathway databases

Pathway_Interaction_DB

foxm1pathway. FOXM1 transcription factor network.

Reactome

REACT_111183. Meiosis.
REACT_216. DNA Repair.

SignaLink

P51587.

Gene expression databases

ArrayExpress

P51587.

Bgee

P51587.

CleanEx

HS_BRCA2.

Genevestigator

P51587.

GermOnline

ENSG00000139618. Homo sapiens.

Family and domain databases

Gene3D

2.40.50.140. 4 hits.

InterPro

IPR015525. 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]

PANTHER

PTHR11289. PTHR11289. 1 hit.

Pfam

PF09169. 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]

PIRSF

PIRSF002397. BRCA2. 1 hit.

SUPFAM

SSF81872. BRCA2_helical. 1 hit.
SSF50249. Nucleic_acid_OB. 3 hits.

PROSITE

PS50138. BRCA2_REPEAT. 8 hits.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

P51587.

GenomeRNAi

675.

NextBio

2780.

SOURCE

Search...

Entry information

Entry name

BRCA2_HUMAN

Accession

Primary (citable) accession number: P51587
Secondary accession number(s): O00183 , O15008, Q13879, Q5TBJ7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	June 20, 2001
Last modified:	May 29, 2013
This is version 152 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.