Breast cancer type 2 susceptibility protein

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Reviewed, UniProtKB/Swiss-Prot P51587 (BRCA2_HUMAN)

Last modified June 16, 2009. Version 105. History...

Clusters with 100%, 90%, 50% identity |

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	3418 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation. Ref.5 Ref.6 Ref.7
Subunit structure	Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. Interacts with PALB2, enables the recombinational repair and checkpoints functions. Interacts with WDR16. Ref.5 Ref.6 Ref.8 Ref.9
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. Ref.6 Ref.10
Polymorphism	Genetic variations in BRCA2 may underlie susceptibility to uveal melanoma [MIM:155720]. Uveal melanoma is the most common type of ocular malignant tumor, consisting of overgrowth of uveal melanocytes and often preceded by a uveal nevus.
Involvement in disease	Defects in BRCA2 are a cause of genetic susceptibility to breast cancer (BC) [MIM:612555, 114480]; also called susceptibility to familial breast-ovarian cancer type 2 (BROVCA2). BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer. Mutations in BRCA2 are thought to be responsible for some inherited breast cancer. It is linked with male breast cancer. Ref.9 Ref.16 Ref.17 Ref.18 Ref.19 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27 Ref.28 Ref.30 Ref.35 Ref.36 Ref.37 Ref.40 Ref.45 Ref.46 Ref.48 Ref.50 Defects in BRCA2 are the cause of Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]. Fanconi anemia [MIM:227650] is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Ref.38 Ref.44 Ref.52
Sequence similarities	Contains 8 BRCA2 repeats.

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Ontologies

Keywords
Biological process	DNA damage DNA repair
Coding sequence diversity	Polymorphism
Disease	Disease mutation Fanconi anemia
Domain	Repeat
PTM	Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	centrosome duplication Inferred from direct assay. Source: UniProtKB cytokinesis during cell cycle Inferred from direct assay. Source: UniProtKB negative regulation of mammary gland epithelial cell proliferation Inferred from direct assay. Source: UniProtKB nucleotide-excision repair Inferred from mutant phenotype. Source: UniProtKB regulation of S phase of mitotic cell cycle Non-traceable author statement. Source: UniProtKB regulation of transcription, DNA-dependent Inferred by curator. Source: UniProtKB response to estrogen stimulus Inferred from direct assay. Source: UniProtKB response to genistein Inferred from direct assay. Source: UniProtKB
Cellular component	BRCA2-MAGE-D1 complex Inferred from direct assay. Source: UniProtKB centrosome Inferred from direct assay. Source: UniProtKB nucleoplasm Inferred from Experiment. Source: Reactome secretory granule Inferred from direct assay. Source: UniProtKB
Molecular function	gamma-tubulin binding Inferred from physical interaction. Source: UniProtKB single-stranded DNA binding Inferred from electronic annotation. Source: InterPro transcription activator activity Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct
ABL1	P00519	1	EBI-79792,EBI-375543
FANCD2	Q9BXW9	9	EBI-79792,EBI-359343
FANCD2	Q9BXW9-2	2	EBI-79792,EBI-596878
FYN	P06241	1	EBI-79792,EBI-515315
GRB2	P62993	1	EBI-79792,EBI-401755
RAD51	Q06609	7	EBI-79792,EBI-297202
SHFM1	P60896	3	EBI-79792,EBI-79819

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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

BRCA2 1

Repeat

1212 – 1246

BRCA2 2

Repeat

1421 – 1455

BRCA2 3

Repeat

1517 – 1551

BRCA2 4

Repeat

1664 – 1698

BRCA2 5

Repeat

1837 – 1871

BRCA2 6

Repeat

1971 – 2005

BRCA2 7

Repeat

2051 – 2085

BRCA2 8

Region

1 – 40

Interaction with PALB2

Region

2350 – 2545

196

Interaction with FANCD2

Amino acid modifications

Modified residue

683

Phosphoserine Ref.10

Modified residue

755

Phosphoserine Ref.10

Natural variations

Natural variant

G → R in BC; abolishes interaction with PALB2. Ref.9

VAR_028167

Natural variant

W → C in BC; abolishes interaction with PALB2. Ref.9

VAR_028168

Natural variant

W → R in BC; abolishes interaction with PALB2. Ref.9

VAR_028169

Natural variant

F → L in BC. Ref.19

VAR_005085

Natural variant

Y → C in BC and ovarian cancer; unknown pathological significance. dbSNP rs4987046.

VAR_020705

Natural variant

K → R in BC. Ref.19

VAR_005086

Natural variant

N → S in BC; unknown pathological significance. Ref.45

VAR_020706

Natural variant

T → I in BC. Ref.46

VAR_032712

Natural variant

A → P in ovarian cancer and renal cancer; could be a polymorphism. dbSNP rs28897701. Ref.20

VAR_005087

Natural variant

F → L in BC. Ref.19

VAR_005088

Natural variant

108

N → H

VAR_008766

Natural variant

118

R → H in one patient with esophageal carcinoma. Ref.32

VAR_032713

Natural variant

192

M → T in one patient with pancreatic cancer. Ref.31

VAR_032714

Natural variant

201

P → R in BC. Ref.19

VAR_005089

Natural variant

211

V → A in BC. Ref.19

VAR_005090

Natural variant

222

P → S in BC. Ref.19

VAR_005091

Natural variant

225

T → A in one patient with BC; normal RNA expression and splicing. Ref.49

VAR_032715

Natural variant

289

N → H Common polymorphism; was originally thought to be linked to ovarian cancer. dbSNP rs766173. Ref.25 Ref.46 Ref.50 Ref.3 Ref.21 Ref.39

VAR_005092

Natural variant

315

C → S in one patient with esophageal carcinoma. Ref.32

VAR_032716

Natural variant

322

K → Q: dbSNP rs11571640. Ref.3

VAR_018908

Natural variant

326

S → R in BC. dbSNP rs28897706. Ref.23

VAR_032717

Natural variant

327

K → E in BC; could be a polymorphism.

VAR_008767

Natural variant

355

V → L in lung cancer.

VAR_005093

Natural variant

372

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. dbSNP rs144848. Ref.25 Ref.46 Ref.50 Ref.3 Ref.21 Ref.39 Ref.12 Ref.13 Ref.24

VAR_005094

Natural variant

405

G → R in BC; unknown pathological significance. Ref.45

VAR_020707

Natural variant

431

T → I in BC; unknown pathological significance. Ref.40

VAR_020708

Natural variant

448

R → H in BC; unknown pathological significance. Ref.45

VAR_020709

Natural variant

462

E → G in BC; unknown pathological significance. Ref.45 Ref.46

VAR_020710

Natural variant

505

I → T in BC. dbSNP rs28897708. Ref.27

VAR_032718

Natural variant

513

K → R: dbSNP rs28897709.

VAR_056751

Natural variant

554

C → W in BC and pancreas cancer.

VAR_005095

Natural variant

582

T → P Ref.42

VAR_008768

Natural variant

598

T → A: dbSNP rs28897710. Ref.33

VAR_020711

Natural variant

599

S → F: dbSNP rs1046984. Ref.2

VAR_035436

Natural variant

613

L → R in BC; unknown pathological significance. Ref.36

VAR_020712

Natural variant

630

T → I in ovarian cancer.

VAR_005096

Natural variant

707

D → Y

VAR_008769

Natural variant

728

D → A in BC.

VAR_005097

Natural variant

729

I → M in BC. Ref.25

VAR_032719

Natural variant

784

M → V: dbSNP rs11571653. Ref.50 Ref.3

VAR_008770

Natural variant

886

N → I

VAR_008771

Natural variant

929

L → S: dbSNP rs2227943. Ref.3

VAR_018909

Natural variant

935

D → N in BC; could be a polymorphism. dbSNP rs28897716.

VAR_008772

Natural variant

976

S → F: dbSNP rs11571656. Ref.3

VAR_018910

Natural variant

982

I → L: dbSNP rs28897717.

VAR_056752

Natural variant

987

N → I: dbSNP rs2227944. Ref.3

VAR_018911

Natural variant

991

N → D Common polymorphism. dbSNP rs1799944. Ref.25 Ref.45 Ref.46 Ref.50 Ref.3 Ref.21 Ref.39 Ref.13

VAR_005098

Natural variant

1036

E → K in BC; unknown pathological significance. Ref.40

VAR_020713

Natural variant

1106

S → R in BC; unknown pathological significance. Ref.40

VAR_020714

Natural variant

1147

N → S: dbSNP rs1799951. Ref.13

VAR_005099

Natural variant

1172

S → L in BC; unknown pathological significance.

VAR_032720

Natural variant

1179

S → N in BC. Ref.26

VAR_020715

Natural variant

1279

N → S Ref.46 Ref.39

VAR_020716

Natural variant

1286

Missing

VAR_008773

Natural variant

1290

C → Y

VAR_008774

Natural variant

1302

Missing in BC.

VAR_005100

Natural variant

1414

T → M

VAR_008775

Natural variant

1420

D → Y Ref.26 Ref.46 Ref.39 Ref.33 Ref.51

VAR_008776

Natural variant

1445

K → T in BC; unknown pathological significance. Ref.50

VAR_020717

Natural variant

1513

D → N

VAR_008777

Natural variant

1522

L → F in one patient with BC. Ref.42

VAR_032721

Natural variant

1524

F → V in BC; unknown pathological significance. Ref.40

VAR_020718

Natural variant

1529

G → R in bladder cancer.

VAR_005101

Natural variant

1542

V → M: dbSNP rs28897729.

VAR_056753

Natural variant

1561

H → N Ref.3

VAR_018912

Natural variant

1580

C → Y in BC; somatic mutation. Ref.37

VAR_020719

Natural variant

1593

E → D Ref.34

VAR_008778

Natural variant

1643

V → A: dbSNP rs28897731.

VAR_056754

Natural variant

1679

T → I in BC. Ref.48

VAR_020720

Natural variant

1690

K → N in BC. Ref.46

VAR_032722

Natural variant

1730

N → Y in BC. Ref.27

VAR_032723

Natural variant

1771

G → D in BC; unknown pathological significance. Ref.46

VAR_008779

Natural variant

1804

V → A in BC. Ref.48

VAR_020721

Natural variant

1805

N → S

VAR_008780

Natural variant

1880

N → K Polymorphism; was originally thought to be linked to breast cancer. dbSNP rs11571657. Ref.27 Ref.3

VAR_005102

Natural variant

1887

T → M in BC. Ref.46

VAR_032724

Natural variant

1901

E → K in BC. Ref.48

VAR_020722

Natural variant

1902

D → N

VAR_008781

Natural variant

1915

T → M May be a rare polymorphism; somatic mutation. dbSNP rs4987117. Ref.25 Ref.37 Ref.46 Ref.3 Ref.12 Ref.13

VAR_005103

Natural variant

1929

I → V in BC; unknown pathological significance. Ref.50

VAR_020723

Natural variant

1979

S → R: dbSNP rs28897737.

VAR_056755

Natural variant

1988

V → I in one patient with esophageal carcinoma; somatic mutation. Ref.32

VAR_032725

Natural variant

2031

T → A in BC; unknown pathological significance. Ref.50

VAR_020724

Natural variant

2034

R → C: dbSNP rs1799954. Ref.13 Ref.33 Ref.43

VAR_005104

Natural variant

2044

G → V in one patient with BC. Ref.42

VAR_032726

Natural variant

2072

S → C in BC. Ref.30

VAR_020725

Natural variant

2074

H → N

VAR_008782

Natural variant

2089

E → D in BC. Ref.17

VAR_008783

Natural variant

2094

Y → C in BC. Ref.30

VAR_020726

Natural variant

2096

P → L in BC. Ref.48

VAR_020727

Natural variant

2108

R → C Ref.46

VAR_032727

Natural variant

2118

V → L in BC; unknown pathological significance. Ref.36

VAR_020728

Natural variant

2128

K → N in BC. Ref.30

VAR_020729

Natural variant

2135

N → H in BC. Ref.27

VAR_032728

Natural variant

2138

V → F Ref.3

VAR_008784

Natural variant

2162

K → R Ref.3

VAR_018913

Natural variant

2222

Y → C in BC. Ref.27

VAR_032729

Natural variant

2238

D → E: dbSNP rs28897742.

VAR_056756

Natural variant

2274

G → V in BC.

VAR_005105

Natural variant

2275

E → G in BC; unknown pathological significance. Ref.45

VAR_020730

Natural variant

2293

F → L in BC; unknown pathological significance. Ref.36

VAR_020731

Natural variant

2336

R → H in FANCD1. Ref.52

VAR_032730

Natural variant

2336

R → Q: dbSNP rs28897743.

VAR_056757

Natural variant

2353

G → R in BC; unknown pathological significance. Ref.45

VAR_020732

Natural variant

2415

H → N in BC. Ref.16

VAR_005106

Natural variant

2421

Q → H in BC.

VAR_005107

Natural variant

2440

H → R Ref.3

VAR_018914

Natural variant

2447

N → D: dbSNP rs4986859.

VAR_056758

Natural variant

2456

Q → E in BC. Ref.46

VAR_032731

Natural variant

2466

A → V Polymorphism; was originally thought to be linked to ovarian cancer. Ref.46 Ref.3 Ref.39 Ref.12

VAR_008785

Natural variant

2480

L → V

VAR_008786

Natural variant

2488

R → K in BC; unknown pathological significance. Ref.45

VAR_020733

Natural variant

2490

I → T Ref.3

VAR_008787

Natural variant

2502

R → H in ovarian cancer; could be a polymorphism. Ref.20

VAR_008788

Natural variant

2510

L → P in FANCD1. Ref.44

VAR_032732

Natural variant

2515

T → I in BC; could be a polymorphism. Ref.25

VAR_008789

Natural variant

2626

W → C in FANCD1. Ref.52

VAR_032733

Natural variant

2686

L → P: dbSNP rs28897746.

VAR_056759

Natural variant

2706

N → S Ref.34

VAR_020734

Natural variant

2722

T → R in BC. Ref.28

VAR_018661

Natural variant

2723

D → H in BC; unknown pathological significance. Ref.45

VAR_020735

Natural variant

2728

V → I in BC. Ref.25

VAR_020736

Natural variant

2729

K → N in BC. Ref.35

VAR_020737

Natural variant

2787

R → H in ovarian cancer; somatic mutation. Ref.12

VAR_008790

Natural variant

2792

L → P: dbSNP rs28897751.

VAR_056760

Natural variant

2793

G → R in BC; unknown pathological significance. Ref.36

VAR_020738

Natural variant

2835

S → P Ref.3

VAR_018915

Natural variant

2842

R → C in one patient with esophageal carcinoma; somatic mutation. Ref.32

VAR_032734

Natural variant

2856

E → A Ref.45 Ref.3

VAR_018916

Natural variant

2944

I → F Ref.3 Ref.51

VAR_008791

Natural variant

2950

K → N in BC; unknown pathological significance. Ref.45

VAR_020739

Natural variant

2951

A → T Ref.3 Ref.33

VAR_008792

Natural variant

2969

V → M

VAR_008793

Natural variant

3013

T → I in BC; unknown pathological significance. Ref.45

VAR_020740

Natural variant

3063

P → S in a patient with ovarian cancer; unknown pathological significance. Ref.47

VAR_020741

Natural variant

3076

G → E Ref.43

VAR_020742

Natural variant

3095

D → E Ref.14

VAR_005108

Natural variant

3098

Y → H in BC and ovarian cancer; could be a polymorphism.

VAR_008794

Natural variant

3101

L → R: dbSNP rs28897758.

VAR_056761

Natural variant

3103

I → M in melanoma.

VAR_005109

Natural variant

3118

M → T in BC. Ref.19

VAR_005110

Natural variant

3124

N → I in BC. Ref.26

VAR_020743

Natural variant

3196

K → E in BC. Ref.26

VAR_020744

Natural variant

3244

V → I Ref.3

VAR_018917

Natural variant

3257

K → R

VAR_008795

Natural variant

3276

R → S

VAR_008796

Natural variant

3300

P → S in one patient with esophageal carcinoma. Ref.32

VAR_032735

Natural variant

3357

T → R in BC.

VAR_005111

Natural variant

3374

T → I Ref.36

VAR_020745

Natural variant

3412

I → V Polymorphism; was originally thought to be associated with breast cancer. dbSNP rs1801426. Ref.17 Ref.25 Ref.35 Ref.45 Ref.50 Ref.3 Ref.21 Ref.47

VAR_005112

Experimental info

Sequence conflict

758

S → N in CAA64484. Ref.1

Sequence conflict

1761 – 1762

GY → RI in CAA64484. Ref.1

Sequence conflict

1767

K → N in CAA64484. Ref.1

Sequence conflict

2536

S → P in CAA98995. Ref.4

Sequence conflict

3216

L → LVS in CAA97728. Ref.4

Secondary structure

3418

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

P51587-1 [UniParc].

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

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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. Stratton M.R. Nature 378:789-792(1995) [PubMed: 8524414] [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. Goldar D.E. Nat. Genet. 12:333-337(1996) [PubMed: 8589730] [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. Ross M.T. Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15115758] [Abstract] Cited for: FUNCTION, INTERACTION WITH FANCD2.
[6]	"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: 15199141] [Abstract] Cited for: FUNCTION, PHOSPHORYLATION, INTERACTION WITH FANCD2.
[7]	"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: 15671039] [Abstract] Cited for: FUNCTION.
[8]	"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: 15967112] [Abstract] Cited for: INTERACTION WITH WDR16.
[9]	"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: 16793542] [Abstract] Cited for: INTERACTION WITH PALB2, CHARACTERIZATION OF VARIANTS BC ARG-25; CYS-31 AND ARG-31.
[10]	"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: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-683 AND SER-755, MASS SPECTROMETRY.
[11]	"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: 12442171] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 1519-1551 IN COMPLEX WITH RAD51.
[12]	"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: 8665505] [Abstract] Cited for: VARIANT OVARIAN CANCER HIS-2787, VARIANTS ASN-372; MET-1915 AND VAL-2466.
[13]	"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: 8673091] [Abstract] Cited for: VARIANTS ASN-372; ASP-991; SER-1147; MET-1915 AND CYS-2034.
[14]	"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: 8640235] [Abstract] Cited for: VARIANT GLU-3095.
[15]	"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: 8640236] [Abstract] Cited for: VARIANTS.
[16]	"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: 8640237] [Abstract] Cited for: VARIANT BC ASN-2415.
[17]	"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: 9150152] [Abstract] Cited for: VARIANT BC ASP-2089, VARIANT VAL-3412.
[18]	"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: 9654203] [Abstract] Cited for: VARIANT BC/PANCREAS CANCER TRP-554.
[19]	"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. Miki Y. J. Hum. Genet. 43:42-48(1998) [PubMed: 9609997] [Abstract] Cited for: VARIANTS BC LEU-32; ARG-53; LEU-81; ARG-201; ALA-211; SER-222 AND THR-3118.
[20]	"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: 10486320] [Abstract] Cited for: VARIANTS OVARIAN CANCER PRO-75; HIS-2502 AND HIS-3098.
[21]	"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: 10323242] [Abstract] Cited for: VARIANTS HIS-289; ASN-372; ASP-991 AND VAL-3412.
[22]	"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: 9971877] [Abstract] Cited for: VARIANTS BC, VARIANTS.
[23]	"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: 10399947] [Abstract] Cited for: VARIANT BC ARG-326, VARIANT ILE-2728.
[24]	"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: 11062481] [Abstract] Cited for: VARIANT ASN-372.
[25]	"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: 10978364] [Abstract] Cited for: VARIANTS BC MET-729; ILE-2515 AND ILE-2728, VARIANTS HIS-289; ASN-372; ASP-991; MET-1915 AND VAL-3412.
[26]	"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: 11139248] [Abstract] Cited for: VARIANTS BC ASN-1179; ILE-3124 AND GLU-3196, VARIANT TYR-1420.
[27]	"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: 11241844] [Abstract] Cited for: VARIANTS BC THR-505; TYR-1730; HIS-2135 AND CYS-2222, VARIANT LYS-1880.
[28]	"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: 12145750] [Abstract] Cited for: VARIANT BC ARG-2722.
[29]	Erratum Fackenthal J.D., Cartegni L., Krainer A.R., Olopade O.I. Am. J. Hum. Genet. 73:1477-1477(2002)
[30]	"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: 12373604] [Abstract] Cited for: VARIANTS BC CYS-2072; CYS-2094 AND ASN-2128.
[31]	"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: 12097290] [Abstract] Cited for: VARIANT THR-192.
[32]	"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: 11948123] [Abstract] Cited for: VARIANTS HIS-118; SER-315; ILE-1988; CYS-2842 AND SER-3300.
[33]	"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: 12215251] [Abstract] Cited for: VARIANTS ALA-598; TYR-1420; CYS-2034; ILE-2728 AND THR-2951.
[34]	"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: 12442273] [Abstract] Cited for: VARIANTS ASP-1593 AND SER-2706.
[35]	"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: 12442274] [Abstract] Cited for: VARIANT BC ASN-2729, VARIANT VAL-3412.
[36]	"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: 12442275] [Abstract] Cited for: VARIANTS BC CYS-42; ARG-613; LEU-2118; LEU-2293 AND ARG-2793, VARIANT ILE-3374.
[37]	"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: 11948477] [Abstract] Cited for: VARIANTS BC TYR-1580 AND MET-1915.
[38]	"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: 12065746] [Abstract] Cited for: INVOLVEMENT IN FANCD1.
[39]	"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: 12552570] [Abstract] Cited for: VARIANTS HIS-289; ASN-372; GLY-462; ASP-991; SER-1279; TYR-1420; ASP-1771 AND VAL-2466.
[40]	"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: 12938098] [Abstract] Cited for: VARIANTS BC ILE-431; LYS-1036; ARG-1106 AND VAL-1524.
[41]	"Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma." Hearle N., Damato B.E., Humphreys J., Wixey J., Green H., Stone J., Easton D.F., Houlston R.S. Invest. Ophthalmol. Vis. Sci. 44:458-462(2003) [PubMed: 12556369] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO UVEAL MELANOMA.
[42]	"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: 12624724] [Abstract] Cited for: VARIANTS PRO-582; PHE-1522 AND VAL-2044.
[43]	"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: 12569143] [Abstract] Cited for: VARIANTS CYS-2034 AND GLU-3076.
[44]	"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: 14670928] [Abstract] Cited for: VARIANT FANCD1 PRO-2510.
[45]	"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: 15026808] [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.
[46]	"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: 15172753] [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.
[47]	"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: 14746861] [Abstract] Cited for: VARIANT OVARIAN CANCER CYS-42, VARIANTS SER-3063 AND VAL-3412.
[48]	"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: 14722926] [Abstract] Cited for: VARIANTS BC ILE-1679; ALA-1804; LYS-1901 AND LEU-2096.
[49]	"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: 15300854] [Abstract] Cited for: VARIANT ALA-225, CHARACTERIZATION OF VARIANT ALA-225.
[50]	"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: 15365993] [Abstract] Cited for: VARIANTS BC THR-1445; VAL-1929 AND ALA-2031, VARIANTS HIS-289; ASN-372; VAL-784; ASP-991 AND VAL-3412.
[51]	"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: 15635067] [Abstract] Cited for: VARIANTS LEU-1172; TYR-1420; PHE-2944; ASN-2950 AND ILE-3013.
[52]	"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: 16825431] [Abstract] Cited for: VARIANTS FANCD1 HIS-2336 AND CYS-2626.
+	Additional computationally mapped references.

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Web resources

Fanconi Anemia Mutation Database

GeneReviews

NIEHS-SNPs

Wikipedia

BRCA2 entry

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Cross-references

Sequence databases

X95152

X95177 Genomic DNA. Translation: CAA64484.1.
U43746 mRNA. Translation: AAB07223.1.
AY436640 Genomic DNA. Translation: AAQ97181.1.
Z74739 Genomic DNA. Translation: CAA98995.2.
Z73359 Genomic DNA. Translation: CAA97728.1.

IPI

IPI00412408.

PIR

G02334.

RefSeq

NP_000050.2.

UniGene

Hs.34012

3D structure databases

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

SMR

P51587. Positions 2479-2854.

ModBase

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Protein-protein interaction databases

DIP

DIP:24214N.

IntAct

P51587. 10 interactions.

PTM databases

PhosphoSite

P51587.

Proteomic databases

PRIDE

P51587.

Genome annotation databases

Ensembl

ENSG00000139618. Homo sapiens. [Contig view]

GeneID

675.

KEGG

hsa:675.

Organism-specific databases

GeneCards

GC13P031787.

HGNC

HGNC:1101. BRCA2.

MIM

114480. phenotype.
155720. phenotype.
227650. phenotype.
600185. gene.
605724. phenotype.
612555. phenotype.

Orphanet

145. Breast cancer, familial.
84. Fanconi anemia.
513. Leukemia, lymphoblastic, acute.
654. Nephroblastoma.
1331. Prostate cancer, familial.

PharmGKB

PA25412.

GenAtlas

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Phylogenomic databases

HOGENOM

P51587.

HOVERGEN

P51587.

Enzyme and pathway databases

Pathway_Interaction_DB

foxm1pathway. FOXM1 transcription factor network.

Reactome

REACT_216. DNA Repair.

Gene expression databases

Bgee

P51587.

CleanEx

HS_BRCA2.

GermOnline

ENSG00000139618. Homo sapiens.

Family and domain databases

InterPro

IPR015187. BRCA-2_OB_1.
IPR015188. BRCA-2_OB_3.
IPR011370. BRCA2.
IPR015252. BRCA2_helical.
IPR002093. BRCA2_repeat.
IPR018231. BRCA2_repeat_subgroup.
IPR015525. BRCA_2.
IPR015205. Tower.
[Graphical view]

PANTHER

PTHR11289. BRCA_2. 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.

PROSITE

PS50138. BRCA2_REPEAT. 8 hits.
[Graphical view]

ProtoNet

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Other Resources

NextBio

2780.

SOURCE

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Entry information

Entry name

BRCA2_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	June 20, 2001
Last modified:	June 16, 2009
This is version 105 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 13

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Secondary structure

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents