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BRCA2 Gene(Protein Coding)

BRCA2, DNA Repair Associated

GCID:
GC13P032315
GIFtS:
59
Genes Participants
UDN Logo

Aliases for BRCA2 Gene

Aliases for BRCA2 Gene

  • BRCA2, DNA Repair Associated 2 3 5
  • BRCA1/BRCA2-Containing Complex, Subunit 2 2 3
  • Fanconi Anemia Group D1 Protein 3 4
  • Breast Cancer 2, Early Onset 2 3
  • FANCD1 3 4
  • FACD 3 4
  • Breast And Ovarian Cancer Susceptibility Gene, Early Onset 3
  • Breast And Ovarian Cancer Susceptibility Protein 2 3
  • Breast Cancer Type 2 Susceptibility Protein 3
  • Fanconi Anemia, Complementation Group D1 2
  • Breast Cancer 2 Tumor Suppressor 3
  • Truncated Breast Cancer 2 3
  • Breast Cancer 2 2
  • Mutant BRCA2 3
  • BROVCA2 3
  • XRCC11 3
  • BRCC2 3
  • PNCA2 3
  • FANCD 3
  • FAD1 3
  • GLM3 3
  • FAD 3

External Ids for BRCA2 Gene

Previous HGNC Symbols for BRCA2 Gene

  • FANCD1
  • FACD
  • FANCD

Previous GeneCards Identifiers for BRCA2 Gene

  • GC13P030875
  • GC13P026876
  • GC13P031826
  • GC13P030687
  • GC13P031787
  • GC13P032889
  • GC13P013701

Summaries for BRCA2 Gene

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]

CIViC summary for BRCA2 Gene

  • BRCA2 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. Variants that have been demonstrated to reduce the function of the protein have been shown to increase risk for these cancers, as well as prostate and pancreatic cancer. These findings have been the impetus for the increased popularity of genetic testing of healthy indivudals to assess risk.

GeneCards Summary for BRCA2 Gene

BRCA2 (BRCA2, DNA Repair Associated) is a Protein Coding gene. Diseases associated with BRCA2 include Fanconi Anemia, Complementation Group D1 and Breast Cancer. Among its related pathways are Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include protease binding and histone acetyltransferase activity.

UniProtKB/Swiss-Prot for BRCA2 Gene

  • 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. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180).

Gene Wiki entry for BRCA2 Gene

Additional gene information for BRCA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRCA2 Gene

Genomics for BRCA2 Gene

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GeneHancer (GH) Regulatory Elements for BRCA2 Gene

Promoters and enhancers for BRCA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH13I032314 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 562.9 +0.9 902 2.9 CLOCK SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 BRCA2 ZAR1L N4BP2L2 IFIT1P1
GH13I032340 Enhancer 0.5 Ensembl 12.9 +26.0 26039 0.2 ZNF316 MAFG NFE2 NFE2L2 BRCA2 ZAR1L IFIT1P1
GH13I032045 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.2 -267.8 -267761 2.6 ELF3 SMAD1 NFIB ARID4B FEZF1 YY1 SCRT2 CREM THAP11 MIXL1 FRY FRY-AS1 N4BP2L2 N4BP2L1 BRCA2 GC13P032060
GH13I032115 Enhancer 1 FANTOM5 Ensembl ENCODE 1.6 -199.2 -199187 2.4 POLR2A MAX REST MYC RUNX3 SPI1 N4BP2L2 BRCA2 N4BP2L1 GC13P032060 FRY GC13P032297
GH13I032117 Enhancer 0.9 FANTOM5 Ensembl ENCODE 1.6 -197.2 -197222 0.9 E2F1 POLR2A MAX N4BP2L2 BRCA2 N4BP2L1 GC13P032060 FRY GC13P032297
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BRCA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BRCA2 gene promoter:

Genomic Locations for BRCA2 Gene

Genomic Locations for BRCA2 Gene
chr13:32,314,862-32,400,266
(GRCh38/hg38)
Size:
85,405 bases
Orientation:
Plus strand
chr13:32,889,611-32,973,809
(GRCh37/hg19)

Genomic View for BRCA2 Gene

Genes around BRCA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRCA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRCA2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BRCA2 Gene

Proteins for BRCA2 Gene

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  • Protein details for BRCA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51587-BRCA2_HUMAN
    Recommended name:
    Breast cancer type 2 susceptibility protein
    Protein Accession:
    P51587
    Secondary Accessions:
    • O00183
    • O15008
    • Q13879
    • Q5TBJ7

    Protein attributes for BRCA2 Gene

    Size:
    3418 amino acids
    Molecular mass:
    384202 Da
    Quaternary structure:
    • Monomer and dimer (PubMed:20729858). Interacts with RAD51; regulates RAD51 recruitment and function at sites of DNA repair (PubMed:12442171, PubMed:15800615, PubMed:18317453, PubMed:20729832, PubMed:20729859). Interacts with WDR16, USP11, DMC1, ROCK2 and NPM1 (PubMed:15314155, PubMed:15967112, PubMed:20729832, PubMed:21084279). Interacts with SEM1; the interaction masks a nuclear export signal in BRCA2 (PubMed:10373512, PubMed:16205630, PubMed:21719596, PubMed:24013206). Interacts with both nonubiquitinated and monoubiquitinated FANCD2; this complex also includes XRCC3 and phosphorylated FANCG (PubMed:15115758, PubMed:15199141, PubMed:18212739). Part of a BRCA complex containing BRCA1, BRCA2 and PALB2 (PubMed:19369211). Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3 (PubMed:19369211, PubMed:24141787, PubMed:28319063, PubMed:16793542, PubMed:19609323). Interacts with BRCA1 only in the presence of PALB2 which serves as the bridging protein (PubMed:19369211). Interacts with POLH; the interaction is direct (PubMed:24485656). Interacts with the TREX-2 complex subunits PCID2 and SEM1 (PubMed:24896180, PubMed:21719596).

    Three dimensional structures from OCA and Proteopedia for BRCA2 Gene

neXtProt entry for BRCA2 Gene

Protein Expression for BRCA2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BRCA2 Gene

  • 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 binding.
  • 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 degradation.
  • Ubiquitination at Lys1872 and Lys2077
  • Modification sites at PhosphoSitePlus

Other Protein References for BRCA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BRCA2 Gene

Domains & Families for BRCA2 Gene

Gene Families for BRCA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BRCA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BRCA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BRCA2: view

No data available for UniProtKB/Swiss-Prot for BRCA2 Gene

Function for BRCA2 Gene

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Molecular function for BRCA2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180).

Phenotypes From GWAS Catalog for BRCA2 Gene

Gene Ontology (GO) - Molecular Function for BRCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 15314155
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IDA 20729832
GO:0004402 NOT histone acetyltransferase activity IDA 9824164
GO:0005515 protein binding IPI 9560268
genes like me logo Genes that share ontologies with BRCA2: view
genes like me logo Genes that share phenotypes with BRCA2: view

Human Phenotype Ontology for BRCA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BRCA2 Gene

MGI Knock Outs for BRCA2:

Animal Model Products

Clone Products

  • Addgene plasmids for BRCA2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BRCA2 Gene

Localization for BRCA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRCA2 Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRCA2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 21076401
GO:0000800 lateral element IDA 9774970
GO:0005634 nucleus IEA,IDA 9560268
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with BRCA2: view

Pathways & Interactions for BRCA2 Gene

genes like me logo Genes that share pathways with BRCA2: view

Interacting Proteins for BRCA2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000369497%0d%0a9606.ENSP00000358151%0d%0a9606.ENSP00000260810%0d%0a9606.ENSP00000342886%0d%0a9606.ENSP00000311873%0d%0a9606.ENSP00000380177%0d%0a
Selected Interacting proteins: P51587-BRCA2_HUMAN ENSP00000369497 for BRCA2 Gene via IID STRING UniProtKB MINT

Symbol External ID(s) Details
PDS5B
RAD51
DMC1
PALB2
SEM1

SIGNOR curated interactions for BRCA2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BRCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination IEA --
GO:0000724 double-strand break repair via homologous recombination IMP 21719596
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0000910 cytokinesis IDA 17286961
genes like me logo Genes that share ontologies with BRCA2: view

Drugs & Compounds for BRCA2 Gene

Products:

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(68) Drugs for BRCA2 Gene - From: PharmGKB, ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Olaparib Approved Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other, Poly(ADPRIBOSE) polymerase (PARP) inhibitors 162
Rucaparib Approved, Investigational Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other 23
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1400
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3027

(22) Additional Compounds for BRCA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BRCA2: view

Transcripts for BRCA2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BRCA2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(48) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BRCA2 Gene

Breast cancer 2, early onset:
Representative Sequences:

Clone Products

  • Addgene plasmids for BRCA2

Alternative Splicing Database (ASD) splice patterns (SP) for BRCA2 Gene

No ASD Table

Relevant External Links for BRCA2 Gene

GeneLoc Exon Structure for
BRCA2
ECgene alternative splicing isoforms for
BRCA2

Expression for BRCA2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BRCA2 Gene

mRNA expression in normal human tissues for BRCA2 Gene
mRNA expression by GTEx for BRCA2 GenemRNA expression by BioGPS for BRCA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BRCA2 Gene

This gene is overexpressed in Testis (x4.6).

Protein differential expression in normal tissues from HIPED for BRCA2 Gene

This gene is overexpressed in Cerebrospinal fluid (33.4), Cervix (23.0), and Heart (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRCA2 Gene



Protein tissue co-expression partners for BRCA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BRCA2 Gene:

BRCA2

SOURCE GeneReport for Unigene cluster for BRCA2 Gene:

Hs.34012

mRNA Expression by UniProt/SwissProt for BRCA2 Gene:

P51587-BRCA2_HUMAN
Tissue specificity: Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.

Evidence on tissue expression from TISSUES for BRCA2 Gene

  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BRCA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BRCA2: view

Orthologs for BRCA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BRCA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia BRCA2 33 34
  • 99.38 (n)
dog
(Canis familiaris)
 Mammalia BRCA2 33 34
  • 83.02 (n)
cow
(Bos Taurus)
 Mammalia BRCA2 33 34
  • 82.64 (n)
mouse
(Mus musculus)
 Mammalia Brca2 33 16 34
  • 73.85 (n)
rat
(Rattus norvegicus)
 Mammalia Brca2 33
  • 72.97 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 63 (a)
 OneToMany
-- 34
  • 41 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia BRCA2 34
  • 45 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BRCA2 33 34
  • 56.29 (n)
lizard
(Anolis carolinensis)
 Reptilia BRCA2 34
  • 50 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii brca2 34
  • 27 (a)
 OneToOne
Species where no ortholog for BRCA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BRCA2 Gene

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

Paralogs for BRCA2 Gene

No data available for Paralogs for BRCA2 Gene

Variants for BRCA2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for BRCA2 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000705954 likely-benign, Hereditary breast and ovarian cancer syndrome 32,354,918(+) A/C/G coding_sequence_variant, missense_variant, synonymous_variant
rs1002791506 likely-benign, not specified, Breast-ovarian cancer, familial 2 32,338,297(+) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs1005568368 uncertain-significance, Hereditary cancer-predisposing syndrome 32,332,695(+) C/G coding_sequence_variant, missense_variant
rs1010143466 uncertain-significance, Hereditary breast and ovarian cancer syndrome 32,337,504(+) C/T coding_sequence_variant, missense_variant
rs1012059623 likely-benign, Hereditary breast and ovarian cancer syndrome 32,354,851(+) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BRCA2 Gene

Variant ID Type Subtype PubMed ID
esv3306840 CNV mobile element insertion 20981092
esv3329650 CNV insertion 20981092
esv3426269 CNV insertion 20981092
esv3580597 CNV loss 25503493
nsv1127324 CNV deletion 24896259
nsv1145657 CNV deletion 24896259
nsv475474 CNV novel sequence insertion 20440878
nsv819799 CNV gain 19587683
nsv832576 CNV gain 17160897

Variation tolerance for BRCA2 Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.51; 71.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BRCA2 Gene

Human Gene Mutation Database (HGMD)
BRCA2
BRCA Exchange expert-reviewed variants for
BRCA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRCA2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRCA2 Gene

Disorders for BRCA2 Gene

MalaCards: The human disease database

(71) MalaCards diseases for BRCA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group d1
  • fancd1
breast cancer
  • breast cancer, familial
breast-ovarian cancer, familial 2
  • breast-ovarian cancer, familial, susceptibility to, 2
pancreatic cancer 2
  • pancreatic cancer, susceptibility to, 2
glioma susceptibility 3
  • glm3
- elite association - COSMIC cancer census association via MalaCards
Search BRCA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BRCA2_HUMAN
  • 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. {ECO:0000269 PubMed:10399947, ECO:0000269 PubMed:10978364, ECO:0000269 PubMed:11139248, ECO:0000269 PubMed:11241844, ECO:0000269 PubMed:11948477, ECO:0000269 PubMed:12145750, ECO:0000269 PubMed:12373604, ECO:0000269 PubMed:12442274, ECO:0000269 PubMed:12442275, ECO:0000269 PubMed:12938098, ECO:0000269 PubMed:14722926, ECO:0000269 PubMed:15026808, ECO:0000269 PubMed:15172753, ECO:0000269 PubMed:15365993, ECO:0000269 PubMed:16793542, ECO:0000269 PubMed:24013206, ECO:0000269 PubMed:8640237, ECO:0000269 PubMed:9150152, ECO:0000269 PubMed:9609997, ECO:0000269 PubMed:9654203, ECO:0000269 PubMed:9971877}. Note=Disease susceptibility is associated with variations 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. {ECO:0000269 PubMed:12065746, ECO:0000269 PubMed:14670928, ECO:0000269 PubMed:16825431, ECO:0000269 PubMed:21719596}. 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. {ECO:0000269 PubMed:15689453}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:9140390}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for BRCA2 Gene

familial breast carcinoma,2,with a high incidence of male breast cancer,sporadic or familial,and of laryngeal,prostate,ovarian carcinomas (see TSG13D)

Additional Disease Information for BRCA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BRCA2: view

Publications for BRCA2 Gene

  1. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. (PMID: 19241424) Hall MJ … Noll WW (Cancer 2009) 3 22 44 58
  2. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. (PMID: 19553641) Fong PC … de Bono JS (The New England journal of medicine 2009) 3 22 44 58
  3. BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation. (PMID: 19805903) Vaidyanathan K … Somasundaram K (Journal of biosciences 2009) 3 22 44 58
  4. Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1. (PMID: 18176857) Miramar MD … García de Jalón A (Breast cancer research and treatment 2008) 3 22 44 58
  5. [BRCA1 and BRCA2 mutations in families studied in the program of genetic counselling in cancer of the Valencian community (Spain)]. (PMID: 18279628) Esteban Cardeñosa E … Grupo de Asesoramiento en Cáncer Hereditario de la Comunidad Valenciana (Medicina clinica 2008) 3 22 44 58

Products for BRCA2 Gene