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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BRCA2 Gene

protein-coding   GIFtS: 68
GCID: GC13P032889

breast cancer 2, early onset

(Previous names: Fanconi anemia, complementation group D1 )
(Previous symbols: FANCD1, FACD, FANCD)
 Explore 119 diseases affiliated with
BRCA2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BRCA2    

Aliases
for BRCA2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Breast Cancer 2, Early Onset1 2     GLM32 5
FANCD11 2 3 5     PNCA22 5
FACD1 2 3     Fanconi Anemia, Complementation Group D11
BRCC21 2     FANCB2
FAD1 2     BRCA1/BRCA2-Containing Complex, Subunit 22
FAD11 2     Breast And Ovarian Cancer Susceptibility Gene, Early Onset2
FANCD1 2     Breast Cancer 2 Tumor Suppressor2
Fanconi Anemia Group D1 Protein2 3     Breast Cancer Type 2 Susceptibility Protein2
BROVCA22 5     Truncated Breast And Ovarian Cancer Susceptibility Protein 22

External Ids:    HGNC: 11011   Entrez Gene: 6752   Ensembl: ENSG000001396187   OMIM: 6001855   UniProtKB: P515873   

Export aliases for BRCA2 gene to outside databases

Previous GC identifers: GC13P030875 GC13P026876 GC13P031826 GC13P030687 GC13P031787 GC13P013701


Summaries
for BRCA2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene 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, Dec 2008)

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587
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

Gene Wiki entry for BRCA2


Genomic Views
for BRCA2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BRCA2 gene promoter:
         GR   NF-1   AML1a   CREB   MEF-2A   Nkx6-1   deltaCREB   POU2F1c   GR-alpha   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BRCA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for BRCA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRCA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
BRCA2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P032889:  view genomic region     (about GC identifiers)

Start:
 32,889,611 bp from pter      End:
 32,973,809 bp from pter
Size:
 84,199 bases      Orientation:
 plus strand

Proteins
for BRCA2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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: 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
2 PDB 3D structures from and Proteopedia for BRCA2:
1N0W (3D)        3EU7 (3D)    
Secondary accessions: O00183 O15008 Q13879 Q5TBJ7

Explore the universe of human proteins at neXtProt for BRCA2: NX_P51587

Post-translational modifications:

  • 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 binding1
  • 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 degradation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51587

    • BRCA2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000050.2  
    ENSEMBL proteins: 
     ENSP00000369497   ENSP00000435699   ENSP00000433168   ENSP00000434898   ENSP00000439902  
    Reactome Protein details: P51587
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for BRCA2 
    GenScript Custom Purified and Recombinant Proteins Services for BRCA2
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BRCA2

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA17286961


    BRCA2 for ontologies           About GeneDecksing



    BRCA2 Antibody Products: 
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    R&D Systems Antibodies for BRCA2
    Cell Signaling Technology (CST) Antibodies for BRCA2 
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    GenScript Superior Antibodies for BRCA2
    Novus Biologicals BRCA2 Antibodies
    Search for Antibodies for BRCA2 at Abcam  
    Uscn Antibodies for BRCA2
    ThermoFisher Antibodies for BRCA2

    Assay Products for BRCA2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BRCA2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for BRCA2

    Protein Domains /
    Families
    for BRCA2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BRCA2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR012340 NA-bd_OB-fold
     IPR015252 DNA_recomb/repair_BRCA2_hlx
     IPR015187 BRCA2_OB_1
     IPR015188 BRCA2_OB_3
     IPR002093 BRCA2_repeat

    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


    Function
    for BRCA2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587
    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

         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

    miRNA
    Products:            		miRTarBase miRNAs that target BRCA2:
    hsa-mir-146a (MIRT001919)

    OriGene 3'-UTR Clone: BRCA2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BRCA2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate BRCA2:
    hsa-miR-875-3p hsa-miR-1245
    SwitchGear 3'UTR luciferase reporter plasmid: BRCA2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BRCA2 (see all 4)
    OriGene shRNA RFP: BRCA2
    OriGene siRNA: BRCA2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BRCA2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for BRCA2

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRCA2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRCA2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: BRCA2 (NM_000059)
    Sino Biological Human cDNA Clone for BRCA2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRCA2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BRCA2 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for BRCA2
    Search LifeMap BioReagents cell lines for BRCA2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRCA2

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI15314155
    GO:0003697single-stranded DNA binding IDA--
    GO:0004402NOT histone acetyltransferase activity IDA9824164
    GO:0005515protein binding IPI--
    GO:0010484H3 histone acetyltransferase activity IDA9619837


    BRCA2 for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for BRCA2:
     Decreased viability with cispl  Increased circadian rhythm amp  Synthetic lethal with Ras  Synthetic lethal with cisplati 
     Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for BRCA2: Brca2tm1Mbn Brca2tm1Kamc Brca2tm1Arge Brca2tm1Cbl Brca2tm1Mhun Brca2tm1Hst
                                                   Brca2tm1.1Brn Brca2tm1Mak Brca2tm2Hst Brca2tm1Brd
         15/17 MGI mutant phenotypes (inferred from 15 alleles) (MGI details for Brca2) (see all 17):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  nervous system  normal  reproductive system 

    BRCA2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BRCA2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of Meiotic Holliday Junction
    		Formation of Meiotic Holliday Junction1.00
    		Formation of Meiotic Single-stranded DNA Invasion Complex0.83
    		Formation of Meiotic Heteroduplex0.83
    		Resolution of Meiotic Holliday Junction0.31
    2Homologous Recombination Repair
    		Homologous Recombination Repair1.00
    		Double-Strand Break Repair0.71
    		Homologous recombination repair of replication-independent double-strand breaks1.00
    3Fanconi Anemia pathway
    		Fanconi Anemia pathway1.00
    		Fanconi's Anaemia Pathway0.43
    4Integrated Pancreatic Cancer Pathway
    		Integrated Pancreatic Cancer Pathway1.00
    		Integrated Pancreatic Cancer Pathway0.99
    5Homologous recombination
    		Homologous recombination1.00
    		Homologous recombination0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BRCA2
        Fanconi's Anaemia Pathway
    BRCA1 Pathway
    DNA Repair Mechanisms
    Pancreatic Adenocarcinoma

    2 Cell Signaling Technology (CST) Pathways for BRCA2
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for BRCA2
        DNA damage Role of Brca1 and Brca2 in DNA repair

    5/6 BioSystems Pathways for BRCA2 (see all 6) 
        Integrated Breast Cancer Pathway
    Homologous recombination
    Signaling Pathways in Glioblastoma
    Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway

    5/13        Reactome Pathways for BRCA2 (see all 13)
        DNA Repair
    Homologous recombination repair of replication-independent double-strand breaks
    Formation of Meiotic Single-stranded DNA Invasion Complex
    Meiotic Recombination
    Presynaptic phase of homologous DNA pairing and strand exchange


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


    BRCA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BRCA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/92 Interacting proteins for BRCA2 (P515871, 2, 3 ENSP000003694974) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAD51Q066091, 2, 3, ENSP000002678684EBI-79792,EBI-1059207 MINT-8176347 MINT-8361862 MINT-8384735 MINT-4980518 MINT-8329250 MINT-8303499 MINT-4980488 MINT-4980408 MINT-8384781 MINT-8385051 MINT-8385019 MINT-8384801 MINT-8384999 MINT-8329389 MINT-8176308 MINT-4980796 MINT-4980473 MINT-8329289 MINT-8176323 MINT-4980567 MINT-8384752 MINT-4980502 I2D: score=10 STRING: ENSP00000267868
    PALB2Q86YC22, 3, ENSP000002615844MINT-8361862 MINT-8385019 MINT-8384999 MINT-8329389 MINT-8329250 MINT-8329289 MINT-8384768 MINT-7262259 MINT-7262208 MINT-8384781 MINT-7262197 MINT-7262227 I2D: score=3 STRING: ENSP00000261584
    PDS5BQ9NTI52MINT-8384735 MINT-8392646 MINT-8384678 MINT-8384908 MINT-8384717 MINT-8392542 MINT-8384781 MINT-8384942 MINT-8384857 MINT-8392595 MINT-8384958 MINT-8385051 MINT-8392612 MINT-8384892 MINT-8385019 MINT-8384999 MINT-8385117 MINT-8385079 MINT-8384691 MINT-8391711 MINT-8392578 MINT-8384926 MINT-8385033 MINT-8392560 MINT-8385100 MINT-8392629
    DMC1Q145652, 3, ENSP000002160244MINT-4980903 MINT-4980810 MINT-4980826 MINT-4980585 MINT-4980429 MINT-4980889 MINT-4980408 MINT-4980860 MINT-4980845 MINT-4980457 MINT-4980775 I2D: score=1 STRING: ENSP00000216024
    BRCA1P383982, 3, ENSP000003502834MINT-8361862 MINT-8329389 MINT-8329250 MINT-8329289 I2D: score=5 STRING: ENSP00000350283
    About this table

    Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0001556oocyte maturation IEA--
    GO:0001833inner cell mass cell proliferation IEA--
    GO:0006281DNA repair TAS--
    GO:0006289nucleotide-excision repair IMP16845393


    BRCA2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BRCA2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BRCA2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BRCA2
    10/48 Novoseek chemical compound relationships for BRCA2 gene (see all 48)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nu1025 65.2 3 16251802 (1), 18990703 (1)
    tamoxifen 60.3 33 11710890 (5), 11130383 (4), 14645421 (4), 11870509 (3) (see all 19)
    estrogen 54.4 40 8895509 (5), 18765668 (3), 18086271 (2), 15381448 (2) (see all 22)
    mitomycin c 42.4 32 20174566 (3), 15314155 (2), 18469443 (2), 16920162 (2) (see all 16)
    progesterone 39.1 12 14732925 (2), 11429050 (1), 12548582 (1), 15933754 (1) (see all 11)
    adpribose 26.1 3 19074863 (1), 16082177 (1), 19553641 (1)
    camptothecin 17.9 10 12007633 (1), 15258697 (1), 9679765 (1), 12673354 (1) (see all 7)
    3-aminobenzamide 11.9 2 16251802 (1)
    daidzein 11.1 7 12881020 (3), 20127002 (2), 11694309 (1)
    cisplatin 5.31 19 19654294 (5), 18264087 (4), 10446958 (1), 18413725 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about BRCA2 

    Transcripts
    for BRCA2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for BRCA2 gene: 
    NM_000059.3  

    Unigene Cluster for BRCA2:

    Breast cancer 2, early onset
    Hs.34012  [show with all ESTs]
    Unigene Representative Sequence: NM_000059
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380152(uc001uua.1) ENST00000530893 ENST00000528762 ENST00000470094
    ENST00000533776 ENST00000544455(uc001uub.1)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: BRCA2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BRCA2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate BRCA2:
    hsa-miR-875-3p hsa-miR-1245
    SwitchGear 3'UTR luciferase reporter plasmid: BRCA2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BRCA2 (see all 4)
    OriGene shRNA RFP: BRCA2
    OriGene siRNA: BRCA2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BRCA2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRCA2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRCA2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: BRCA2 (NM_000059)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRCA2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BRCA2 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BRCA2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BRCA2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BRCA2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BRCA2

    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):

    NM_000059 BQ439258 AL044849 BC026160 BC047568 AL602008 BX102368 AI355687 
    U43746 BQ226936 H48122 AU143426 CF143354 BM839248 BG290037 AA741449 
    AL601892 AI688632 BU568005 BG773127 AA767988 BX496533 AA215820 BM171992 

    GeneLoc Exon Structure


    Expression
    for BRCA2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BRCA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTATAAGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See BRCA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BRCA2

    SOURCE GeneReport for Unigene cluster: Hs.34012

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including BRCA2 (see all 10): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat
              Cell Cycle in human mouse rat

    Primer
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    Orthologs
    for BRCA2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BRCA2 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Brca21 , 5 breast cancer 21, 5 73.67(n)1
    60.24(a)1    		   5 (89.52 cM)5
    121901  NM_009765.21  NP_033895.21 
     1505226305 
    chicken
    (Gallus gallus)    		 Aves BRCA21 breast cancer 2, early onset 52.83(n)
    39.7(a)    		   374139  NM_204276.2  NP_989607.2 
    lizard
    (Anolis carolinensis)    		 Reptilia BRCA26
    		 --
    		 51(a)
    		 1 ↔ 1
    		 3(183721820-183740656)
    zebrafish
    (Danio rerio)    		 Actinopterygii brca21 breast cancer 2, early onset 46.3(n)
    34.35(a)    		   566758  NM_001110394.2  NP_001103864.2 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 27(a)
    		 1 ↔ 1
    		 Group11.27(177799-182155)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons BRCA2B6
    BRCA2A6
    		 breast cancer protein 2 like 2A
    		 20(a)
    19(a)
    		 many → 1
    many → 1
    		 5(234851-240911)
    4(2895-10455)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 BRCA2 repeat family protein, expressed
    		 19(a)
    		 1 ↔ 1
    		 1(3344203-3354066)


    ENSEMBL Gene Tree for BRCA2 (if available)
    TreeFam Gene Tree for BRCA2 (if available) 

    Paralogs
    for BRCA2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for BRCA2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3298 NCBI SNPs in BRCA2 are shown (see all 3298)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803586951,2
    		Cpathogenic13724775(+) AAAAAG/TAGCAA 2 E * stg10--------
    rs803587851,2
    		Cpathogenic13725772(+) TAAATA/C/GAAAAA 3 * S stg10--------
    rs803589791,2
    		Cpathogenic13742270(+) CAGTCC/TGTATC 2 P L mis10--------
    rs803590701,2
    		Cpathogenic13749169(+) TGTCTA/TAAAGA 2 * L stg10--------
    rs803591801,2
    		Cpathogenic13766000(+) ACTTTC/G/TAGCCA 3 Q E * mis1 stg10--------
    rs17999431,2
    		C,F,O,A,H,untested13702207(+) ACCAAA/C/G/T 
                CATTG     		3 -- ut5143MN NS NA EA WA EU 5716
    rs1387052021,2
    		C,untested13702218(+) GAGGAA/CTATCG 1 -- ut511Minor allele frequency- C:0.00EU 1269
    rs2761747951,2
    		Cuntested13702221(+) GAATAC/G/TCGTAG 2 -- ut510--------
    rs768747701,2
    		C,F,untested13702222(+) AATATC/TGTAGG 1 -- ut511Minor allele frequency- T:0.03WA 118
    rs803586501,2
    		Cuntested13702235(+) AAAATA/G/TCCTAT 3 I M mis10--------

    HapMap Linkage Disequilibrium report for BRCA2 (32889611 - 32973809 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BRCA2
         1 Indel: 58621
    Human Gene Mutation Database (HGMD): BRCA2

    Locus Specific Mutation Databases (LSDB): BRCA2

    2 SABiosciences Cancer Mutation PCR Assays for BRCA2:
    Cosmic IdAA Change
    13844p.K1517fs*23
    13843p.E1593*
    1 SABiosciences qBiomarker Copy Number PCR Array containing BRCA2:
    Oncogenes & Tumor Suppressor Genes 384HC
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BRCA2
    DNA2.0 Custom Variant and Variant Library Synthesis for BRCA2

    Disorders / Diseases
    for BRCA2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    BRCA2 for disorders           About GeneDecksing

    OMIM gene information: 600185   
    OMIM disorders: 612555  605724  176807  114480  194070  155255  613029  613347  
    UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587
  • Defects in BRCA2 are a cause of susceptibility to 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
  • Defects in BRCA2 are the cause of pancreatic cancer type 2 (PNCA2) [MIM:613347]. It is 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
  • Defects in BRCA2 are a cause of susceptibility to familial breast-ovarian cancer type 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
  • Defects in BRCA2 are the cause of Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]. It is 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
  • Defects in BRCA2 are a cause of glioma type 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

    20/119 diseases for BRCA2 (see all 119):    About MalaCards
    breast-ovarian cancer    fanconi anemia, complementation group d1    ovarian cancer    fanconi's anemia
    breast cancer    li-fraumeni-like syndrome    tay-sachs disease    li-fraumeni syndrome
    peutz-jeghers syndrome    anemia    von hippel-lindau disease    pre-b-cell acute lymphoblastic leukemia
    fallopian tube carcinoma    fallopian tube cancer    breast-ovarian cancer, familial, 2    synchronous bilateral breast carcinoma
    diffuse large b-cell lymphoma    bile duct cancer    multiple endocrine neoplasia    breast cancer, early-onset

    14 diseases from the University of Copenhagen DISEASES database for BRCA2:
    Ovarian cancer     Breast cancer     Hereditary breast ovarian cancer     Aplastic anemia
    Fallopian tube cancer     Li-Fraumeni syndrome     Pancreatic cancer     Lynch syndrome
    Peritoneal carcinoma     Ductal carcinoma in situ     Prostate cancer     Peutz-Jeghers syndrome
    Carcinoma     Dysplastic nevus syndrome

    10/93 Novoseek disease relationships for BRCA2 gene (see all 93)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian cancer 94.5 1150 10560359 (7), 17196508 (6), 12237285 (5), 19066131 (5) (see all 99)
    breast cancer 92.3 2276 9145678 (9), 11044354 (8), 18355772 (7), 10359546 (7) (see all 99)
    prophylactic oophorectomy 91.4 37 15863145 (5), 9148160 (3), 12023993 (3), 18341607 (2) (see all 25)
    germ-line mutation 89.9 143 10969800 (4), 17001151 (4), 14732925 (3), 10862052 (3) (see all 99)
    bilateral breast cancer 85.8 31 11556836 (3), 10573018 (2), 19649703 (2), 19372713 (2) (see all 18)
    cancer 81.2 585 19620486 (7), 14966099 (7), 10972993 (5), 10433620 (4) (see all 99)
    fanconis anemia 77.9 48 19530235 (3), 16243825 (3), 14559878 (2), 17200671 (2) (see all 29)
    li-fraumeni syndrome 71 6 10432928 (2), 11205230 (1), 10962444 (1), 20014426 (1) (see all 5)
    cancer syndromes hereditary 70.5 5 19140568 (1), 16237564 (1), 19825178 (1), 10667595 (1) (see all 5)
    fallopian tube cancer 69.4 6 16835424 (1), 12237285 (1), 15254695 (1), 19141781 (1) (see all 6)

    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
    BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer

    Genetic Association Database (GAD): BRCA2
    Human Genome Epidemiology (HuGE) Navigator: BRCA2 (733 documents)
    Tumor Gene Database (TGDB): BRCA2

    Export disorders for BRCA2 gene to outside databases

    Publications
    for BRCA2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BRCA2 gene, integrated from 9 sources (see all 1888):
    (articles sorted by number of sources associating them with BRCA2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2, 3 Dunham A.... Ross M.T. (2004)
    2. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. (PubMed id 14670928)1, 2, 4 Hirsch B.... D'Andrea A.D. (2004)
    3. A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. (PubMed id 11062481)1, 2, 4 Healey C.S.... Ponder B.A.J. (2000)
    4. Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. (PubMed id 11948477)1, 2, 9 Kwiatkowska E.... Mackiewicz A. (2002)
    5. Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. (PubMed id 14722926)1, 2, 9 Valarmathi M.T.... Das S.N. (2004)
    6. BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage. (PubMed id 15314155)1, 2, 9 Schoenfeld A.R....Aaronson S.A. (2004)
    7. Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. (PubMed id 15199141)1, 2, 9 Wang X.Z.... D'Andrea A.D. (2004)
    8. BRCA2 germline mutations in familial pancreatic carcinoma. (PubMed id 12569143)1, 2, 9 Hahn S.A....Bartsch D.K. (2003)
    9. A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer. (PubMed id 14647210)1, 4, 9 Jakubowska A....Lubinski J. (2003)
    10. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. (PubMed id 11857015)1, 4, 9 Antoniou A.C....Easton D.F. (2002)

    External Searches for BRCA2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BRCA2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 675 HGNC: 1101 AceView: BRCA2 Ensembl:ENSG00000139618 euGenes: HUgn675
    ECgene: BRCA2 Kegg: 675 H-InvDB: BRCA2

    Other Databases showing BRCA2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BRCA2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BRCA2 Pharmacogenomics, SNPs, Pathways
    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.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRCA2
    NIEHS-SNPshttp://egp.gs.washington.edu/data/brca2/
    Wikipedia http://en.wikipedia.org/wiki/BRCA2

    Intellectual Property
    for BRCA2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for BRCA2 gene:
    Search GeneIP for patents involving BRCA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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