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BRCA2 Gene

protein-coding   GIFtS: 72

GC13P031787
breast cancer 2, early onset
(Previous names: Fanconi anemia, complementation group D1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: FANCD1, FACD, FANCD)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

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
External Ids
HGNC: 11011
Entrez Gene: 6752
UniProtKB: P515873
Ensembl: ENSG000001396187
Search outside databases for aliases for BRCA2 gene

Previous GC identifers: GC13P030875 GC13P026876 GC13P031826 GC13P030687

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for BRCA2:
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing
breast 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 protein
contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to
the 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-type
allele. [provided by RefSeq]

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587
Function: Involved in double-strand break repair and/or homologous recombination. May participate
in S phase checkpoint activation

Gene Wiki entry 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 SABiosciences)
About This Section

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  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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)
About This Section

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 PhosphoSite2


  • REFSEQ proteins: NP_000050.2  

    ENSEMBL proteins: 
    ENSP00000369497 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (BRCA2)
    Human Recombinant Proteins from Abnova (BRCA2)
                    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 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA9560268 9774970 17286961
    GO:0005654 nucleoplasm EXP12606939
    GO:0005737 cytoplasm IEA--
    GO:0005813 centrosome IDA17286961
    GO:0030141 secretory granule IDA8589722
    About this table

    Antibodies for BRCA2: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of BRCA2
    Sigma-Aldrich Antibodies for BRCA2
    R&D Systems Antibodies for BRCA2
    Antibodies from Abcam (BRCA2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (BRCA2)
    Novus Biologicals Antibodies for BRCA2

    Assays for BRCA2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/8 InterPro domains/families (see all 8 ):
     IPR015252 BRCA2_helical
     IPR018231 BRCA2_repeat_subgroup
     IPR015187 BRCA-2_OB_1
     IPR015188 BRCA-2_OB_3
     IPR002093 BRCA2_repeat


       GeneDecks  BRCA2 for the domains selected above  
    About GeneDecksing

    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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (BRCA2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (BRCA2)
                  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  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  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 participate
    in S phase checkpoint activation

    Genatlas biochemistry entry for BRCA2:
    BRCA2 homolog to C elegans T07E3 uncharacterized gene,expressed in many tissues and most abundant
    in the S phase,complexing and interacting with phosphorylated BRCA1,RAD51 and RAD52 for cell cycle
    control and DNA repair through homologous recombination,also involved in embryonic cellular
    proliferation

    15/18 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Brca2) (see all 18 ):

    behavior/neurologicalcellularembryogenesisendocrine/exocrine glandgrowth/size
    hematopoietic systemhomeostasis/metabolismimmune systemlethality-postnatallethality-prenatal/perinatal
    life span-post-weaning/aginglimbs/digits/tailnervous systemnormalreproductive system

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003697 single-stranded DNA binding IEA--
    GO:0004402NOT histone acetyltransferase activity IDA9824164
    GO:0005515 protein binding IPI9774970 10373512 11597317 12242698 15930293 15967112 16099937 16275750 17515903
    GO:0016563 transcription activator activity IDA9619837
    GO:0043015 gamma-tubulin binding IPI17286961
    About this table

    (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 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for BRCA2 (Maps provided by GeneGo):
     Role of Brca1 and Brca2 in DNA repair

       GeneDecks  BRCA2 for the pathways selected above  
    About GeneDecksing

    1 Millipore Pathway for BRCA2
     DNA damage Role of Brca1 and Brca2 in DNA repair

       GeneDecks  BRCA2 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  BRCA2  (Your Favorite Gene powered by Ingenuity) 
     Role of BRCA1 in DNA Damage Response

       GeneDecks  BRCA2 for the pathways selected above  
    About GeneDecksing

    3 Kegg Pathways  (Kegg details for BRCA2):
     hsa03440 Homologous recombination
     hsa05200 Pathways in cancer
     hsa05212 Pancreatic cancer

       GeneDecks  BRCA2 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  BRCA2 


    5/75 Interacting proteins for BRCA2 (ENSP000003694973 P515871, 2) via UniProtKB, MINT, and/or STRING (see all 75 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCD2Q9BXW91STRING (score=.999) EBI-79792, EBI-359343
    SHFM1P608961STRING (score=.996) EBI-79792, EBI-79819
    RAD51Q066091, 2STRING (score=.999) EBI-79792, EBI-297202 MINT-4980796 MINT-4980473 MINT-4980518 MINT-4980488 MINT-4980408 MINT-4980567 MINT-4980502 EBI-79792, EBI-297202 MINT-4980796 MINT-4980473 MINT-4980518 MINT-4980488 MINT-4980408 MINT-4980567 MINT-4980502
    ABL1P005191EBI-79792, EBI-375543
    FYNP062411EBI-79792, EBI-515315
    About this table

    5/30 Gene Ontology (GO) biological process terms (links to tree view) (see all 30 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724 double-strand break repair via homologous recombination IEA--
    GO:0001556 oocyte maturation IEA--
    GO:0001833 inner cell mass cell proliferation IEA--
    GO:0006289 nucleotide-excision repair IMP16845393
    GO:0006310 DNA recombination IEA--
    About this table
    (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)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for BRCA2
    10/20 Novoseek chemical compound relationships for BRCA2 gene (see all 20 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    nu1025 67.65 3 16251802 (1), 18990703 (1)
    progesterone 32.82 10 14732925 (2), 11429050 (1), 12548582 (1), 15933754 (1) (see all 9)
    3-aminobenzamide 13.89 2 16251802 (1)
    phosphatidylinositol 5.24 7 15805113 (2), 16754685 (2), 10608806 (1)
    estradiol 4.03 2 10375022 (1)
    thymidine 2.24 1 11103814 (1)
    gold 0.84 1 16825125 (1)
    mspi 0.00 1 9365162 (1)
    o6-methylguanine 0.00 1 19047179 (1)
    polyacrylamide 0.00 1 17572079 (1)
    About this table

    1 PharmGKB drug compound relationship for BRCA2 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    docetaxelCO  11400119
    About this table


    (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, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (BRCA2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (BRCA2)
                  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  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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 )
    About This Section

    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


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    1503_at2, 3 U95-A 1 1.00 1.00 0.94 1.13 X95152 0.20 1.00 0.72 1

    1989_at2, 3 U95-A 1 1.00 1.00 0.74 0.75 U43746 0.80 0.88 0.84 1

    1990_g_at2, 3 U95-A 1 1.00 1.00 0.96 0.89 U43746 0.80 0.88 0.84 1

    208368_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000059 0.60 1.00 0.82 1

    214727_at2, 3 U133-A 1 1.00 1.00 -- -- X95152 0.20 1.00 0.72 1

    208368_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    214727_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ATTATAAGAA

    SOURCE 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 levels
    in lung, ovary and spleen

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for BRCA2 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    BRCA21   -- breast cancer 2, early onset 82.88(n)
    71.13(a)
    474180  NM_001006653.4  NP_001006654.2 
    chimpanzee
    (Pan troglodytes)
    BRCA21   -- breast cancer 2, early onset 99.38(n)
    99.09(a)
    452526  XM_509619.2  XP_509619.2 
    rat
    (Rattus norvegicus)
    Brca21   -- breast cancer 2 72.62(n)
    59.07(a)
    360254  NM_031542.1  NP_113730.1 
    mouse
    (Mus musculus)
    Brca21, 5 5 (84.00 cM)5
    breast cancer 21, 5 73.67(n)1
    60.24(a)1
    121901  NM_001081001.11  NP_001074470.11 
     AI2566965  AK1328645  (see all 48)
    chicken
    (Gallus gallus)
    BRCA21   -- breast cancer 2, early onset 52.48(n)
    38.82(a)
    374139  NM_204276.1  NP_989607.1 
    About this table        Species with no ortholog for BRCA2

    ENSEMBL Gene Tree for BRCA2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    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 of
    overgrowth of uveal melanocytes and often preceded by a uveal nevus


    10/903 NCBI SNPs in BRCA2 are shown (see all 903 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 328)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 13 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs2061161,2
    A,C,F,H,O31786483(-) GCAACC/TTTGGA 1 -- ng5119Minor allele frequency- T:0.47NS EU EA WA NA MN 1500
    rs1448481,2
    A,C,F,H,O31804729(-) CTGATT/GTGCTA 1 H/N mis139Minor allele frequency- G:0.25NS MN EA NA CSAM EU WA 3348
    rs11483211,2
    A,C,F,H,O31872288(+) TTAATA/TGCATG 1 -- ng3112Minor allele frequency- T:0.22EU EA WA NS NA 1080
    rs17999431,2
    A,C,F,H,O31788572(+) ACCAAG/ACATTG 1 -- ut5127Minor allele frequency- A:0.25MN CSAM EA NS NA EU WA 2580
    --
    rs2061171,2
    A,C,F,H31786709(-) cacccG/AgccCA 1 -- ng515Minor allele frequency- A:0.43EU EA WA NS 580
    rs30929891,2
    C,F,H,O31787363(+) GAAAGG/AGATGG 1 -- ng51 trp314Minor allele frequency- A:0.14NS EU EA WA NA 1384
    rs158691,2
    C,F,H,O31871012(+) ATGAGA/CAAAGA 1 -- ut31 trp324Minor allele frequency- C:0.19MN EA NA EU WA CSAM NS 2362
    rs17999441,2
    C,F,H,O31809463(+) ACATGA/GACAAA 1 N/D mis128Minor allele frequency- G:0.06MN CSAM EA NS NA EU WA 2360
    --
    rs73345431,2
    A,C,F,H31871276(+) TTTACA/GAAGAA 1 -- ut31 ese3 trp35Minor allele frequency- G:0.19NS EU EA WA 568
    rs2061151,2
    A,C,F,H31786473(-) ATTAGA/GAAAAG 1 -- ng51 trp35Minor allele frequency- G:0.44EU EA WA NS 586
    About this table

    HapMap Linkage Disequilibrium images for BRCA2 (up to first 250kb)

    (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.)
    About This Section

    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 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
  • 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
  • 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
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Breast NeoplasmsCO  FA  11400119 15375219
    About this table

    Genatlas disease: BRCA2
    familial breast carcinoma,2,with a high incidence of male breast cancer,sporadic or familial,and
    of 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

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/1392 PubMed articles for BRCA2 gene (see all 1392 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 675 HGNC: 1101 AceView: BRCA2 Ensembl:ENSG00000139618 euGenes: HUgn675
    ECgene: BRCA2 H-InvDB: BRCA2
    (According to HUGE)
    About This Section

      --
    (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

    NameDescription
    ATLAS Chromosomes in Cancer entry for BRCA2 Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpd1.html
    GeneReviewshttp://www.genetests.org/query?gene=BRCA2
    NIEHS-SNPshttp://egp.gs.washington.edu/data/brca2/
    Wikipedia http://en.wikipedia.org/wiki/BRCA2
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (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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