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Aliases & Descriptions for BRCA2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases BRCC2 1 , 2 BROVCA2 2 , 5 FACD 2 , 3 FAD 1 , 2 FAD1 1 , 2 FANCB 2 FANCD 2 FANCD1 2 , 3 , 5 OTTHUMP00000018803 2 OTTHUMP00000042401 2
Descriptions BRCA1/BRCA2-containing complex, subunit 2 2 Fanconi anemia group D1 protein 3 Fanconi anemia, complementation group D1 1 breast and ovarian cancer susceptibility gene, early onset 2 breast cancer 2 tumor suppressor 2 breast cancer 2, early onset 2 breast cancer susceptibility protein BRCA2 2
Search outside databases for aliases for BRCA2 genePrevious GC identifers: GC13P030875 GC13P026876 GC13P031826 GC13P030687
Summaries for BRCA2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for BRCA2 : Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developingbreast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability,specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 proteincontains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding tothe RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene,as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-typeallele. [provided by RefSeq] UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587 Function : Involved in double-strand break repair and/or homologous recombination. May participatein S phase checkpoint activation
Gene Wiki entry for BRCA2
Genomic Location for BRCA2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the BRCA2 gene Entrez Gene cytogenetic band: 13q12.3 Ensembl cytogenetic band: 13q13.1 HGNC cytogenetic band: 13q12-q13 BRCA2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 13 GeneLoc Exon Structure
GeneLoc location for GC13P031787:
(about GC identifiers )
Start:
31,787,617 bp from pter
End:
31,871,809 bp from pter
Size:
84,193 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000013.9 NT_024524.13 Proteins for BRCA2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587 (See
protein sequence )Recommended Name: Breast cancer type 2 susceptibility protein Size : 3418 amino acids; 384225 Da
Subunit : Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. Interacts with PALB2,enables the recombinational repair and checkpoints functions. Interacts with WDR16
PDB structures from and Proteopedia : 1N0W (3D)
 
Secondary accessions : O00183 O15008 Q13879
Post-translational modifications:
Phosphorylated by ATM upon irradiation-induced DNA damage1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_000050.2 ENSEMBL proteins: ENSP00000369497 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for BRCA2: Assays for BRCA2:
Protein
Domains/ Families for BRCA2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P51587 ProtoNet protein and cluster: P51587
UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587 Similarity : Contains 8 BRCA2 repeats
Gene Function for BRCA2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
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Sigma-Aldrich ,
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Clones , and
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Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000059 Applied Biosystems Silencer ® siRNAs for BRCA2 Sigma-Aldrich siRNA and siRNA Panels for BRCA2 Sigma-Aldrich shRNA Panels and shRNA for BRCA2 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000059                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000059                                  untagged cDNA clone in CMV expression vector: NM_000059  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000059 UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587 Function : Involved in double-strand break repair and/or homologous recombination. May participatein S phase checkpoint activation
Genatlas biochemistry entry for BRCA2 :BRCA2 homolog to C elegans T07E3 uncharacterized gene,expressed in many tissues and most abundantin the S phase,complexing and interacting with phosphorylated BRCA1,RAD51 and RAD52 for cell cyclecontrol and DNA repair through homologous recombination,also involved in embryonic cellularproliferation
15/18 MGI mutant phenotypes (inferred from 14 alleles ) (MGI details for Brca2) (see all 18
):5 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for BRCA2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for BRCA2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for BRCA2 5/75 Interacting proteins for BRCA2 (ENSP00000369497 3 P51587 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 75
)About this table 5/30 Gene Ontology (GO) biological process terms (links to tree view) (see all 30
):
About this table
Drugs & Compounds for BRCA2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for BRCA2 10/20 Novoseek chemical compound relationships for BRCA2 gene (see all 20
)
About this table 1 PharmGKB drug compound relationship for BRCA2 gene
Drug compound
PharmGKB Relations
PubMed IDs for articles supporting these relationships
docetaxel CO  11400119
About this table
Transcripts for BRCA2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000059 Sigma-Aldrich siRNA and siRNA Panels for BRCA2 Sigma-Aldrich shRNA Panels and shRNA for BRCA2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000059
REFSEQ mRNAs for BRCA2 gene: NM_000059.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000059
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000059                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000059                                  untagged cDNA clone in CMV expression vector: NM_000059  
Additional cDNA sequence: BC026160.1 BC047568.1 DQ897648.1
3 DOTS entries : DT.212055 DT.91725304 DT.40111537
24/48 AceView cDNA sequences (see all 48
):BC026160 AL044849 BX102368 AI355687 U43746 BQ226936 BC047568 AL602008 NM_000059 BQ439258 BU568005 H48122 BM171992 BE552211 BV183238 BX496533 BG773203 AA741449 BM839248 AA215820 BG773127 AA280905 BG772619 AA767988
highest scoring ESTs for BRCA2 :AA740751 AA741449 AA767988 BF814836 BG166449 H48122 U43746 AA215820 AA280905 AA333018
Unigene Cluster for BRCA2: Breast cancer 2, early onset Hs.34012 [show with all ESTs ] Unigene Representative Sequence: NM_000059 GeneLoc Exon Structure 1 Ensembl transcript including schematic representation : ENST00000380152
Expression for BRCA2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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BRCA2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for BRCA2 1 / 2 / 3
7 probe-sets matching BRCA2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ATTATAAGAASOURCE GeneReport for Unigene cluster: Hs.34012 Expression variation in blood from EXPOLDB for BRCA2
UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587 Tissue specificity : Highest levels of expression in breast and thymus, with slightly lower levelsin lung, ovary and spleen
Orthologs for BRCA2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for BRCA2 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for BRCA2 ENSEMBL Gene Tree for BRCA2 Paralogs for BRCA2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for BRCA2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587 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 ofovergrowth of uveal melanocytes and often preceded by a uveal nevus
HapMap Linkage Disequilibrium images for BRCA2 (up to first 250kb)
Disorders & Mutations for BRCA2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600185 UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587
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 anextremely common malignancy, affecting one in eight women during their lifetime. A positive familyhistory has been identified as major contributor to risk of development of the disease, and thislink is striking for early-onset breast cancer. Mutations in BRCA2 are thought to be responsiblefor some inherited breast cancer. It is linked with male breast cancer 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 bonemarrow elements and associated with cardiac, renal, and limb malformations as well as dermalpigmentary changes
10/93 Novoseek disease relationships for BRCA2 gene (see all 93
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
ovarian cancer
94.48
1051
10560359 (7), 17196508 (6), 12237285 (5), 19066131 (5) (see all 99 )
breast cancer
92.11
2059
9145678 (9), 11044354 (8), 18355772 (7), 10359546 (7) (see all 99 )
prophylactic oophorectomy
91.40
37
15863145 (5), 9148160 (3), 12023993 (3), 18341607 (2) (see all 25 )
germ-line mutation
89.74
135
10969800 (4), 17001151 (4), 14732925 (3), 12543786 (3) (see all 99 )
bilateral breast cancer
85.55
25
11556836 (3), 10573018 (2), 19372713 (2), 15319244 (1) (see all 14 )
cancer
80.55
520
14966099 (7), 10972993 (5), 10433620 (4), 17148771 (4) (see all 99 )
fanconis anemia
77.97
41
16243825 (3), 14559878 (2), 17200671 (2), 17200672 (2) (see all 27 )
fallopian tube cancer
71.38
6
16835424 (1), 12237285 (1), 15254695 (1), 19141781 (1) (see all 6 )
li-fraumeni syndrome
71.08
5
10432928 (2), 11205230 (1), 10962444 (1), 17541742 (1)
peritoneal cancer
70.89
9
16835424 (3), 15516851 (1), 18268356 (1), 17617523 (1) (see all 6 )
About this table 1 PharmGKB disease relationship for BRCA2 gene About this table Genatlas disease: BRCA2 familial breast carcinoma,2,with a high incidence of male breast cancer,sporadic or familial,andof laryngeal,prostate,ovarian carcinomas (see TSG13D) GeneTests: BRCA2 Fanconi Anemia Human Gene Mutation Database : BRCA2 Genetic Association Database: BRCA2 Human Genome Epidemiology Navigator: BRCA2 (522 documents) Tumor Gene Database : BRCA2 Breast Cancer Gene Database : BRCA2
Medical News for BRCA2 (Possibly Related Articles in
Doctor's Guide )
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Publications for BRCA2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/1392 PubMed articles for BRCA2 gene (see all 1392
): Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. (PubMed id 14670928) 3, 4, 6 Hirsch B.... D'Andrea A.D. (2004) Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. (PubMed id 12556369) 3, 4, 6 Hearle N.... Houlston R.S. (2003) A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. (PubMed id 11062481) 3, 4, 6 Healey C.S.... Ponder B.A.J. (2000) Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. (PubMed id 11948477) 1, 3, 4 Kwiatkowska E.... Mackiewicz A. (2002) Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. (PubMed id 14722926) 1, 3, 4 Valarmathi M.T.... Das S.N. (2004) Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. (PubMed id 15199141) 1, 3, 4 Wang X.Z.... D'Andrea A.D. (2004) BRCA2 germline mutations in familial pancreatic carcinoma. (PubMed id 12569143) 1, 3, 4 Hahn S.A....Bartsch D.K. (2003) A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. (PubMed id 11857015) 1, 3, 6 Antoniou A.C....Easton D.F. (2002) [Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai] (PubMed id 16324400) 1, 3, 6 Song C.G....Shao Z.M. (2005) Mutations of the BRCA2 gene in ovarian carcinomas. (PubMed id 8665505) 1, 3, 4 Takahashi H.... Boyd J. (1996)
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Genome Databases showing BRCA2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing BRCA2
(According to HUGE )
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Specialized Databases showing BRCA2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
ATLAS Chromosomes in Cancer entry for BRCA2 Genetics and Cytogenetics in Oncology and Haematology Fanconi Anemia Mutation Database http://www.rockefeller.edu/fanconi/mutate/jumpd1.html GeneReviews http://www.genetests.org/query?gene=BRCA2 NIEHS-SNPs http://egp.gs.washington.edu/data/brca2/ Wikipedia http://en.wikipedia.org/wiki/BRCA2
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-- Services for BRCA2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for BRCA2:
Search Tocris compounds for BRCA2
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009