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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)
Pneumococci & Pneumococcal Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Breast Cancer 2, Early Onset1 2     Fanconi Anemia, Complementation Group D11
FANCD11 2 3 5     Subunit 21
FACD1 2 3     BRCC22
FANCD1 2     FAD2
Fanconi Anemia Group D1 Protein2 3     FAD12
BROVCA22 5     BRCA1/BRCA2-Containing Complex, Subunit 22
GLM32 5     Breast And Ovarian Cancer Susceptibility Gene, Early Onset2
PNCA22 5     Breast Cancer 2 Tumor Suppressor2
BRCA1/BRCA2-Containing Complex1     Breast Cancer Type 2 Susceptibility Protein2

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BRCA2 Gene:
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)

GeneCards Summary for BRCA2 Gene:
BRCA2 (breast cancer 2, early onset) is a protein-coding gene. Diseases associated with BRCA2 include pancreatic cancer, and brca1 and brca2 hereditary breast and ovarian cancer. GO annotations related to this gene include histone acetyltransferase activity and single-stranded DNA binding.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NC_018924.2  NT_024524.15  
Regulatory elements:
   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 plasmidBRCA2 promoter sequence
   Search Chromatin IP Primers for BRCA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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: 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

Explore proteomics data for BRCA2 at MOPED

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
  • Ubiquitination2 at Lys1872, Lys2077
  • Modification sites at PhosphoSitePlus

  • See BRCA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000050.2  
    ENSEMBL proteins: 
     ENSP00000369497   ENSP00000435699   ENSP00000433168   ENSP00000434898   ENSP00000439902  
    Reactome Protein details: P51587

    BRCA2 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BRCA2
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BRCA2

    BRCA2 Antibody Products:

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    R&D Systems Antibodies for BRCA2
    Cell Signaling Technology (CST) Antibodies for BRCA2 
    OriGene Antibodies for BRCA2
    OriGene Custom Antibody Services for BRCA2
    Novus Biologicals BRCA2 Antibodies
    Abcam antibodies for BRCA2 (Q5TBJ7, P51587)
    Cloud-Clone Corp. Antibodies for BRCA2
    ThermoFisher Antibodies for BRCA2
    Search LSBio for Antibodies for BRCA2

    BRCA2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BRCA2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BRCA2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BRCA2
    Cloud-Clone Corp. CLIAs for BRCA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FANC: Fanconi anemia, complementation groups

    Selected InterPro protein domains (see all 7):
     IPR015252 DNA_recomb/repair_BRCA2_hlx
     IPR015205 Tower
     IPR012340 NA-bd_OB-fold
     IPR015187 BRCA2_OB_1
     IPR015188 BRCA2_OB_3

    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


    BRCA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (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 IPI10373512
    GO:0010484H3 histone acetyltransferase activity IDA9619837
         
    BRCA2 for ontologies           About GeneDecksing


    Phenotypes:
         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 

         Selected 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/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  nervous system  normal  reproductive system 

    BRCA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BRCA2: Brca2tm1Mbn Brca2tm1Kamc Brca2tm1Arge Brca2tm1Cbl Brca2tm1Mhun Brca2tm1Hst
                                                         Brca2tm1.1Brn Brca2tm1Mak Brca2tm2Hst Brca2tm1Brd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BRCA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BRCA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BRCA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BRCA2

    miRNA
    Products:
        
    miRTarBase miRNAs that target BRCA2:
    hsa-mir-128-3p (MIRT022036), hsa-mir-146a-5p (MIRT001919), hsa-mir-1245a (MIRT006574), hsa-mir-122-5p (MIRT023360), hsa-mir-192-5p (MIRT026685), hsa-mir-215-5p (MIRT024347)

    Block miRNA regulation of human, mouse, rat BRCA2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate BRCA2:
    hsa-miR-875-3p hsa-miR-1245
    SwitchGear 3'UTR luciferase reporter plasmidBRCA2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BRCA2
    Predesigned siRNA for gene silencing in human, mouse, rat BRCA2

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

    Clone
    Products:
         
    OriGene clones in human, mouse for BRCA2 (see all 5)
    OriGene ORF clones in 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)
    Browse Sino Biological Human cDNA Clones
    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
    Browse ESI BIO Cell Lines and PureStem Progenitors for BRCA2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRCA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (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


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for BRCA2 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Homologous recombination
    Homologous recombination0.40
    Homologous recombination0.40
    2Homologous Recombination Repair
    Homologous Recombination Repair0.70
    Homologous recombination repair of replication-independent double-strand breaks0.00
    Double-Strand Break Repair0.70
    Homologous DNA pairing and strand exchange0.00
    Presynaptic phase of homologous DNA pairing and strand exchange0.00
    3Meiosis (REACTOME)
    Meiosis0.74
    Meiotic Recombination0.74
    4Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32
    5BRCA1 Pathway
    BRCA1 Pathway
    Fanconi's Anaemia Pathway0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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 BioSystems Pathways for BRCA2
        Homologous recombination
    Integrated Breast Cancer Pathway
    Signaling Pathways in Glioblastoma
    Integrated Pancreatic Cancer Pathway
    FOXM1 transcription factor network

    3 Reactome Pathways for BRCA2
        Presynaptic phase of homologous DNA pairing and strand exchange
    Fanconi Anemia pathway
    Meiotic recombination


    4 Kegg Pathways  (Kegg details for BRCA2):
        Homologous recombination
    Fanconi anemia pathway
    Pathways in cancer
    Pancreatic cancer


    BRCA2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for BRCA2

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

    Selected 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-297202 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
    PALB2Q86YC21, 2, 3, ENSP000002615844EBI-79792,EBI-1222653 MINT-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
    PDS5BQ9NTI51, 2EBI-79792,EBI-1175604 MINT-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
    DMC1Q145651, 2, 3, ENSP000002160244EBI-79792,EBI-930865 MINT-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): Selected biological process terms (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0000910cytokinesis IDA17286961
    GO:0001556oocyte maturation IEA--
    GO:0001833inner cell mass cell proliferation IEA--
    GO:0006281DNA repair TAS--

    BRCA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BRCA2

    Selected Novoseek inferred 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)



    BRCA2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
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    Block miRNA regulation of human, mouse, rat BRCA2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate BRCA2:
    hsa-miR-875-3p hsa-miR-1245
    SwitchGear 3'UTR luciferase reporter plasmidBRCA2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BRCA2
    Predesigned siRNA for gene silencing in human, mouse, rat BRCA2
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    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
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    OriGene qSTAR qPCR primer pairs in human, mouse for BRCA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BRCA2
      QuantiTect SYBR Green Assays in human, mouse, rat BRCA2
      QuantiFast Probe-based Assays in human, mouse, rat BRCA2

    Additional mRNA sequence: 

    BC026160.1 BC047568.1 DQ897648.1 

    3 DOTS entries:

    DT.212055  DT.91725304  DT.40111537 

    Selected AceView cDNA sequences (see all 48):

    BQ226936 BX102368 NM_000059 AI355687 U43746 BQ439258 AL044849 BC047568 
    BC026160 AL602008 BG772619 AA765738 AL601892 BM839248 BU568005 AA215820 
    AA280905 AI688632 AA740751 BX496533 AU143426 BV183238 BE552211 BG290037 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BRCA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTATAAGAA
    BRCA2 Expression
    About this image


    BRCA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    BRCA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BRCA2 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BRCA2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brca21 , 5 breast cancer 21, 5 73.85(n)1
    60.49(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 56.29(n)
    44.41(a)
      374139  NM_204276.2  NP_989607.2 
    lizard
    (Anolis carolinensis)
    Reptilia BRCA26
    breast cancer 2, early onset
    50(a)
    1 ↔ 1
    3(183721796-183749387)
    zebrafish
    (Danio rerio)
    Actinopterygii brca26
    breast cancer 2, early onset
    27(a)
    1 ↔ 1
    15(31158358-31174888) ENSDARG00000079015


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BRCA2 gene
    1 SIMAP similar gene for BRCA2 using alignment to 23 protein entries:     BRCA2_HUMAN (see all proteins):
    ATL2

    BRCA2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BRCA2 (see all 3808)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs794832011,2,,4
    C,FOne patient with esophageal carcinoma4 unknown113856364(+) CTAAAT/AGTAGA 4 /S /C mis11Minor allele frequency- A:0.02EA 120
    rs288977061,2,,4
    C,F,HBreast cancer (BC)4 untested113856399(+) ACTAGC/AAAGAC 4 /R /S mis16Minor allele frequency- A:0.00EA NS NA 4496
    rs288977081,2,,4
    C,F,HBreast cancer (BC)4 probable-non-pathogenic113856935(+) GTCTAT/CATTCA 4 /T /I mis15Minor allele frequency- C:0.00NS NA EU 5249
    rs288977281,2,,4
    C,F,HBladder cancer4 non-pathogenic113862883(+) CTAGCG/AGGAAA 4 /R /G mis1 ese3 trp38Minor allele frequency- A:0.00EA NS NA 4514
    rs288977491,2,,4
    C,F,HBreast cancer (BC)4 untested113887309(+) ATGCTA/C/GTTAAG 6 I L V mis1 ese36NS NA EU 6199
    rs803590651,2,,4
    CBreast cancer (BC)4 untested113887314(+) GTTAAA/G/TGCCCA 6 K N syn1 mis10--------
    rs803592281,2,,4
    CBreast cancer (BC)4 probable-non-pathogenic113920876(+) CAACTA/GAAGAC 4 K E mis11Minor allele frequency- G:0.00NA 4552
    VAR_0327294
    Breast cancer (BC)4--see VAR_0327292 Y C mis40--------
    VAR_0327224
    Breast cancer (BC)4--see VAR_0327222 K N mis40--------
    VAR_0051114
    Breast cancer (BC)4--see VAR_0051112 T R mis40--------

    HapMap Linkage Disequilibrium report for BRCA2 (32889611 - 32973809 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for BRCA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv271116CNV Insertion20981092
    nsv819799CNV Gain19587683
    nsv832576CNV Gain17160897

    Human Gene Mutation Database (HGMD): BRCA2
    Locus Specific Mutation Databases (LSDB): BRCA2

    2 Site Specific Mutation Identification with PCR Assays for BRCA2:
    Cosmic IdAA Change
    13844p.K1517fs*23
    13843p.E1593*
    1 Copy Number PCR Panel containing BRCA2:
    Oncogenes & Tumor Suppressor Genes 384HC
    SeqTarget long-range PCR primers for resequencing BRCA2
    DNA2.0 Custom Variant and Variant Library Synthesis for BRCA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600185   
    OMIM disorders: 612555  605724  176807  114480  194070  155255  613029  613347  
    UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast
    neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common
    type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated
    by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different
    families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry
  • Pancreatic cancer 2 (PNCA2) [MIM:613347]: A malignant neoplasm of the pancreas. Tumors can arise from
    both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion,
    including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Breast-ovarian cancer, familial, 2 (BROVCA2) [MIM:612555]: A condition associated with familial
    predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age
    of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in
    both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased
    incidence of tumors of other specific organs, such as the prostate. Note=Disease susceptibility is associated
    with variations affecting the gene represented in this entry
  • Fanconi anemia complementation group D1 (FANCD1) [MIM:605724]: A disorder affecting all bone marrow
    elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb
    malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the
    cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased
    chromosome breakage) and defective DNA repair. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Glioma 3 (GLM3) [MIM:613029]: Gliomas are benign or malignant central nervous system neoplasms derived
    from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes,
    oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for BRCA2 (see all 126):    
    About MalaCards
    pancreatic cancer    brca1 and brca2 hereditary breast and ovarian cancer    glioblastoma 3    hereditary site-specific ovarian cancer syndrome
    pre-b-cell acute lymphoblastic leukemia    brca2 hereditary breast and ovarian cancer    brca2-related fanconi anemia    male breast cancer
    breast-ovarian cancer, familial, 2    fanconi anemia, complementation group d1    wilms tumor    pancreatic cancer susceptibility 2
    medulloblastoma    hereditary breast ovarian cancer    fallopian tube cancer    breast cancer, early-onset
    synchronous bilateral breast carcinoma    bilateral breast cancer    ocular melanoma    breast cancer susceptibility

    15 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     Peutz-Jeghers syndrome     Carcinoma     Prostate cancer
    Ductal carcinoma in situ     Dysplastic nevus syndrome     Cowden disease

    BRCA2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred 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
    GeneReviews: BRCA2
    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

    (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)
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    PubMed articles for BRCA2 gene, integrated from 10 sources (see all 1990):
    (articles sorted by number of sources associating them with BRCA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. (PubMed id 14722926)1, 2, 4, 9 Valarmathi M.T.... Das S.N. (Hum. Mutat. 2004)
    2. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2, 3 Dunham A.... Ross M.T. (Nature 2004)
    3. BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. (PubMed id 15365993)1, 2, 4 Seo J.H.... Koo B.H. (Hum. Mutat. 2004)
    4. 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. (Blood 2004)
    5. 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. (Nat. Genet. 2000)
    6. 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. (Int. J. Cancer 2002)
    7. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. (PubMed id 18355772)1, 4, 9 Antoniou A.C....Easton D.F. (Am. J. Hum. Genet. 2008)
    8. Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus. (PubMed id 17250666)1, 4, 9 Loizidou M....Kyriacou K. (Clin. Genet. 2007)
    9. BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. (PubMed id 16644204)1, 4, 9 Lalloo F....Evans D.G. (Eur. J. Cancer 2006)
    10. Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ. (PubMed id 15728167)1, 4, 9 Claus E.B....Carter D. (JAMA 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 675 HGNC: 1101 AceView: BRCA2 Ensembl:ENSG00000139618 euGenes: HUgn675
    ECgene: BRCA2 Kegg: 675 H-InvDB: BRCA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=BRCA2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/brca2/
    Wikipedia http://en.wikipedia.org/wiki/BRCA2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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