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BRCA2 Gene

protein-coding GIFtS: 71

GC13P032889

breast cancer 2, early onset
(Previous names: Fanconi anemia, complementation group D1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: FANCD1, FACD, FANCD)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases & Descriptions
breast cancer 2, early onset¹ ²		PNCA2² ⁵
FANCD1² ³ ⁵		Fanconi anemia, complementation group D1¹
BRCC2¹ ²		FANCB²
FAD1¹ ²		breast cancer susceptibility protein BRCA2²
FAD¹ ²		breast cancer type 2 susceptibility protein²
Fanconi anemia group D1 protein² ³		breast cancer 2 tumor suppressor²
FACD² ³		FANCD²
GLM3² ⁵		breast and ovarian cancer susceptibility gene, early onset²
BROVCA2² ⁵		BRCA1/BRCA2-containing complex, subunit 2²

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

Search outside databases for aliases for BRCA2 gene

Previous GC identifers: GC13P030875 GC13P026876 GC13P031826 GC13P030687 GC13P031787

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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)

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587

Function: Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint

activation

Gene Wiki entry for BRCA2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BRCA2 gene upstream (promoter) region

:
NF-kappaB1 NF-kappaB CREB p53 deltaCREB GR-alpha RFX1 MIF-1 MEF-2A AREB6

Epigenetics:

SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for BRCA2:

MePH28473-1A

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)

GeneLoc gene densities for 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

RefSeq DNA sequence:

NC_000013.10 NT_024524.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587 (See protein sequence)

Recommended Name: Breast cancer type 2 susceptibility protein

Size: 3418 amino acids; 384225 Da

Subunit: Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. Interacts with PALB2, enables the

recombinational repair and checkpoints functions. Interacts with WDR16

PDB structure from and Proteopedia :

1N0W (3D)

3EU7 (3D)

Secondary accessions: O00183 O15008 Q13879

Post-translational modifications:

Phosphorylated by ATM upon irradiation-induced DNA damage¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000050.2

ENSEMBL proteins:

ENSP00000369497

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	HuPro® and/or Recombinant Proteins from Abnova for BRCA2
	Browse Origene full length recombinant human proteins expressed in human HEK293 cells
	Browse Sino Biological Recombinant Proteins

5/7 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	9560268 9774970 17286961
GO:0005654	nucleoplasm	EXP	12606939
GO:0005737	cytoplasm	IEA	--
GO:0005813	centrosome	IDA	17286961
GO:0030141	secretory granule	IDA	8589722

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BRCA2 for ontologies About GeneDecksing

Antibodies for BRCA2:

	Millipore Mono- and Polyclonal Antibodies for the study of BRCA2
	Sigma-Aldrich Antibodies for BRCA2
	R&D Systems Antibodies for BRCA2
	Monoclonal and Polyclonal Antibodies from Abnova (BRCA2)
	Browse Origene Antibodies
	Novus Biologicals Antibodies for BRCA2
	Browse antibodies at Epitomics

Assays for BRCA2:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	Browse R&D Systems for biochemical assays
	Browse Enzo Life Sciences for kits & assays

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

5/8 InterPro domains/families (see all 8 ):

IPR015252 DNA_recomb/repair_BRCA2_hlx

IPR015205 Tower

IPR016027 NA-bd_OB-fold-like

IPR011370 DNA_recomb/repair_BRCA2

IPR015187 BRCA-2_OB_1

Graphical View of Domain Structure for InterPro Entry P51587

ProtoNet protein and cluster: P51587

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587

Similarity: Contains 8 BRCA2 repeats

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BRCA2)
		Origene 29mer shRNA kits in GFP-retroviral vector: BRCA2 Origene shRNA RFP: BRCA2 Origene basic RS shRNA: BRCA2
		Applied Biosystems Silencer® siRNAs for BRCA2
		Sigma-Aldrich siRNA Panels and siRNA for BRCA2 Sigma-Aldrich shRNA Panels and shRNA for BRCA2 Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		Origene GFP tagged cDNA clones in CMV expression vector: BRCA2 Origene Myc/DDK tagged cDNA clones in CMV expression vector: BRCA2 Origene untagged cDNA clones in CMV expression vector: BRCA2
		Sino Biological Human cDNA Clone for BRCA2

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587

Function: Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint

activation

Genatlas biochemistry entry for BRCA2:

BRCA2 homolog to C elegans T07E3 uncharacterized gene,expressed in many tissues and most abundant in the S

phase,complexing and interacting with phosphorylated BRCA1,RAD51 and RAD52 for cell cycle control and DNA repair

through homologous recombination,also involved in embryonic cellular proliferation

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003697	single-stranded DNA binding	IEA	--
GO:0004402	NOT histone acetyltransferase activity	IDA	9824164
GO:0005515	protein binding	IPI	9560268 9774970 10373512 11597317 12242698 15930293 15967112 16099937 16275750 17474147 17515903 18212739
GO:0016563	transcription activator activity	IDA	9619837
GO:0043015	gamma-tubulin binding	IPI	17286961

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BRCA2 for ontologies About GeneDecksing

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

behavior/neurological	cellular	embryogenesis	endocrine/exocrine gland	growth/size
hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal	lethality-prenatal/perinatal
life span-post-weaning/aging	limbs/digits/tail	nervous system	normal	reproductive system

BRCA2 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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BRCA2 for pathways About GeneDecksing

1 Millipore Pathway for BRCA2

DNA damage Role of Brca1 and Brca2 in DNA repair

4 Sigma-Aldrich "Your Favorite Gene" Pathways for BRCA2 (Your Favorite Gene powered by Ingenuity)

	Pancreatic Adenocarcinoma Signaling
	Ovarian Cancer Signaling
	Role of BRCA1 in DNA Damage Response
	Hereditary Breast Cancer Signaling

5 GeneAssist Pathways for BRCA2

	DNA Repair Mechanism
	Pancreatic Adenocarcinoma
	Intraepithelial Neoplasia of Pancreas
	Fanconi's Anaemia Pathway
	BRCA1 Pathway

3 Kegg Pathways (Kegg details for BRCA2):

	hsa03440 Homologous recombination
	hsa05200 Pathways in cancer
	hsa05212 Pancreatic cancer

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BRCA2

5/17 Interacting proteins for BRCA2 (ENSP00000369497³ P51587^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 17 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAD51	Q06609¹^,²	STRING: ENSP00000372088 EBI-79792,EBI-297202 MINT-4980796 MINT-4980473 MINT-4980518 MINT-4980488 MINT-4980408 MINT-4980567 MINT-4980502 EBI-79792,EBI-297202 MINT-4980796 MINT-4980473 MINT-4980518 MINT-4980488 MINT-4980408 MINT-4980567 MINT-4980502
ABL1	P00519¹^,²	EBI-79792,EBI-375543 MINT-7243738 EBI-79792,EBI-375543 MINT-7243738
FYN	P06241¹^,²	EBI-79792,EBI-515315 MINT-7247350 EBI-79792,EBI-515315 MINT-7247350
FANCD2	Q9BXW9¹	STRING: ENSP00000287647 EBI-79792,EBI-359343
SHFM1	P60896¹	STRING: ENSP00000248566 EBI-79792,EBI-79819

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5/35 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 35 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000724	double-strand break repair via homologous recombination	IEA	--
GO:0001556	oocyte maturation	IEA	--
GO:0001833	inner cell mass cell proliferation	IEA	--
GO:0006281	DNA repair	--	--
GO:0006289	nucleotide-excision repair	IMP	16845393

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BRCA2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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BRCA2 for compounds About GeneDecksing

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for BRCA2
10/92 Novoseek chemical compound relationships for BRCA2 gene (see all 92 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
[b-].[rh+2]	22.20	10	19941814 (2), 19941822 (1), 19919104 (1), 18174332 (1) (see all 9)
poly(adpribose)	6.60	16	19383921 (2), 17624601 (2), 20371688 (1), 20124459 (1) (see all 14)
mitomycin c	3.98	24	20174566 (3), 15314155 (3), 18469443 (2), 16243825 (2) (see all 17)
lsp 1	3.83	3	19656774 (2), 19887619 (1)
daidzein	3.63	8	20127002 (3), 12881020 (3), 19442290 (1), 11694309 (1)
tamoxifen	3.56	34	11710890 (5), 14645421 (4), 11130383 (4), 12457141 (3) (see all 19)
nu1025	3.34	2	18990703 (1), 16251802 (1)
nimustine	2.73	2	20008842 (2)
hboc	2.68	3	17636423 (2), 9971877 (1)
platin	2.38	2	18418074 (2)

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1 PharmGKB drug compound relationship for BRCA2 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
docetaxel	CO	11400119

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BRCA2)
		Applied Biosystems Silencer® siRNAs: NM_000059
		Origene 29mer shRNA kits in GFP-retroviral vector: BRCA2 Origene shRNA RFP: BRCA2 Origene basic RS shRNA: BRCA2
		Sigma-Aldrich siRNA Panels and siRNA for BRCA2 Sigma-Aldrich shRNA Panels and shRNA for BRCA2 Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:

Search SABiosciences for microRNAs that regulate BRCA2:

Assays:

Applied Biosystems TaqMan® Gene Expression Assays:

NM_000059

Clones:

Origene GFP tagged cDNA clones in CMV expression vector: BRCA2
Origene Myc/DDK tagged cDNA clones in CMV expression vector: BRCA2
Origene untagged cDNA clones in CMV expression vector: BRCA2

Primers:		Origene genome-wide validated SYBR primer pairs: BRCA2
		SABiosciences RT2 qPCR Primer Assay for BRCA2: PPH00321A

REFSEQ mRNAs for BRCA2 gene:

NM_000059.3

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 ):

BX102368 BC026160 BC047568 NM_000059 AL044849 BQ226936 U43746 AL602008

AI355687 BQ439258 AU143426 AA767988 BU568005 BV183238 BE552211 AA740751

BM171992 AI343430 AA765738 BM839248 BG290037 CF143354 BG772619 BG773203

highest scoring ESTs for BRCA2:

AA740751 AA741449 AA767988 BF814836 BG166449 H48122 U43746 AA215820 AA280905 AA333018

Unigene Cluster for BRCA2:

Breast cancer 2, early onset

Hs.34012 [show with all ESTs]

Unigene Representative Sequence: NM_000059

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000470094 ENST00000380152

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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BRCA2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BRCA2

¹ / ² / ³

7 probe-sets matching BRCA2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1990_g_at²^{, 3}	U95-A	1	0.75	1.00	0.96	0.89	U43746	0.80	0.88	0.84	1
1503_at²^{, 3}	U95-A	1	0.50	1.00	0.94	1.13	X95152	0.20	1.00	0.72	1
1989_at²^{, 3}	U95-A	1	0.44	1.00	0.74	0.75	U43746	0.80	0.88	0.84	1
208368_s_at²^{, 3}	U133-A	1	0.73	1.00	--	--	NM_000059	0.60	1.00	0.82	1
214727_at*²^{, 3}	U133-A	NULL	0.00	0.00	--	--	X95152	0.20	1.00	0.72	1
208368_s_at²	U133Plus2	1	0.73	1.00	--	--	--	--	--	--	--
214727_at*²	U133Plus2	NULL	0.00	0.00	--	--	--	--	--	--	--

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BRCA2 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: ATTATAAGAA

SOURCE GeneReport for Unigene cluster: Hs.34012

Expression variation in blood from EXPOLDB for BRCA2

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587

Tissue specificity: Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and

spleen

Primers:		Origene genome-wide validated SYBR primer pairs: BRCA2
		SABiosciences RT2 qPCR Primer Assay for BRCA2: PPH00321A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for BRCA2 gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BRCA2¹	--	breast cancer 2, early onset	82.88(n) 71.13(a)	474180 NM_001006653.4 NP_001006654.2
chimpanzee (Pan troglodytes)	BRCA2¹	--	breast cancer 2, early onset	99.38(n) 99.09(a)	452526 XM_509619.2 XP_509619.2
rat (Rattus norvegicus)	Brca2¹	--	breast cancer 2	72.62(n) 59.07(a)	360254 NM_031542.1 NP_113730.1
mouse (Mus musculus)	Brca2^{1, 5}	5 (84.00 cM)⁵	breast cancer 2^{1, 5}	73.67(n)¹ 60.24(a)¹	12190¹ NM_001081001.1¹ NP_001074470.1¹ AI256696⁵ AK132864⁵ (see all 48)
chicken (Gallus gallus)	BRCA2¹	--	breast cancer 2, early onset	52.48(n) 38.82(a)	374139 NM_204276.1 NP_989607.1

About this table Species with no ortholog for BRCA2

ENSEMBL Gene Tree for BRCA2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587

Polymorphism: Genetic variations in BRCA2 may underlie susceptibility to uveal melanoma [MIM:155720]. Uveal melanoma is

the most common type of ocular malignant tumor, consisting of overgrowth of uveal melanocytes and often preceded by a

uveal nevus

10/862 NCBI SNPs in BRCA2 are shown (see all 862 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 305)

AB	SNP ID	Valid	Chr 13 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Related Data				Allele Frequencies
				--	--	--		--	--			--
	rs206116^1,2	C,F,O,A,H	13700118(-)	`GCAACC/TTTGGA`	1	--	ng5¹		26	NS EA NA MN WA	1718
	rs1148321^1,2	C,F,O,A,H	13786072(+)	`TTAATA/TGCATG`	1	--	ng3¹		18	NS EA NA	1250
--	rs206117^1,2	C,F,A,H	13700344(-)	`cacccG/AgccCA`	1	--	ng5¹		10	NS EA NA WA	708
--	rs7334543^1,2	C,F,A,H	32973276(+)	`TTTACA/GAAGAA`	1	--	ut3¹ ese³ trp³		10	NS EA NA WA	698
	rs144848^1,2	C,F,O,A	32906729(-)	`CTGATT/GTGCTA`	2	/N /H	ref¹ mis¹		42	NS MN EA NA WA	3558
	rs206115^1,2	C,F,A,H	13700108(-)	`ATTAGA/GAAAAG`	1	--	ng5¹ trp³		12	NS EA NA WA	804
	rs1799943^1,2	C,F,O,A	32890572(+)	`ACCAAG/ACATTG`	1	--	ut5¹		32	MN NS NA EA	2746
	rs3092989^1,2	C,F,O	13700998(+)	`GAAAGG/AGATGG`	1	--	ng5¹ trp³		17	NS EA NA WA	1594
	rs1046984^1,2	C,F,H	32907411(+)	`AACATC/TTTATA`	2	S F	ref¹ mis¹ ese³		13	MN NS EA	1436
	rs15869^1,2	C,F,O	32973012(+)	`ATGAGA/CAAAGA`	1	--	ut3¹ trp³		26	MN EA NA NS	2522

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HapMap Linkage Disequilibrium images for BRCA2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for BRCA2
1 Indel: 58621

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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BRCA2 for disorders About GeneDecksing

OMIM: 600185

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587

Defects in BRCA2 are a cause of genetic susceptibility to breast cancer (BC) [MIM:612555, 114480]; also called

susceptibility to familial breast-ovarian cancer type 2 (BROVCA2). BC is an extremely common malignancy, affecting one

in eight women during their lifetime. A positive family history has been identified as major contributor to risk of

development of the disease, and this link is striking for early-onset breast cancer. Mutations in BRCA2 are thought to

be responsible for some inherited breast cancer. It is linked with male breast cancer

Defects in BRCA2 are the cause of Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]. Fanconi

anemia (FA) [MIM:227650] is an autosomal recessive disorder affecting all bone marrow elements and associated with

cardiac, renal and limb malformations as well as dermal pigmentary changes

10/287 Novoseek disease relationships for BRCA2 gene (see all 287 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	100.00	1930	9145678 (9), 17767707 (8), 12680164 (8), 11044354 (8) (see all 100)
anemia; fanconi	100.00	94	12967657 (6), 16154163 (5), 15070707 (5), 16243825 (4) (see all 53)
ovarian cancer	100.00	1126	17196508 (7), 10560359 (7), 8705994 (6), 8665505 (6) (see all 100)
breast cancer, familial	100.00	276	8616762 (5), 8751855 (4), 9669814 (3), 18327210 (3) (see all 100)
sporadic breast cancer	100.00	73	8909313 (3), 15365993 (3), 11429050 (3), 9365162 (2) (see all 57)
brca1 mutation	100.00	235	17196508 (5), 11207349 (5), 11844822 (4), 18577985 (3) (see all 100)
brca2 mutation	100.00	1952	11844822 (9), 17196508 (8), 18437078 (7), 17700570 (7) (see all 100)
germline mutation	100.00	484	12569143 (5), 11158174 (5), 12352190 (4), 12204006 (4) (see all 100)
brcax	100.00	47	20174566 (6), 18327210 (5), 16614877 (5), 16623759 (4) (see all 21)
breast-ovarian cancer	100.00	46	11207042 (3), 9150153 (2), 16980226 (2), 16875939 (2) (see all 38)

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1 PharmGKB disease relationship for BRCA2 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Breast Neoplasms	CO FA	11400119 15375219

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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

Locus Specific Mutation Databases: BRCA2
Human Gene Mutation Database: BRCA2
Genetic Association Database: BRCA2
Human Genome Epidemiology Navigator: BRCA2 (629 documents)
Tumor Gene Database: BRCA2
Breast Cancer Gene Database: BRCA2

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/1554 PubMed articles for BRCA2 gene (see all 1554 ):

Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. (PubMed id 12556369)^{1, 3, 4, 6} Hearle N.... Houlston R.S. (2003)
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. (PubMed id 14670928)^{3, 4, 6} Hirsch B.... D'Andrea A.D. (2004)
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. (PubMed id 11062481)^{3, 4, 6} Healey C.S.... Ponder B.A.J. (2000)
Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. (PubMed id 15199141)^{1, 3, 4} Wang X.Z.... D'Andrea A.D. (2004)
Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. (PubMed id 11948477)^{1, 3, 4} Kwiatkowska E.... Mackiewicz A. (2002)
Mutations of the BRCA2 gene in ovarian carcinomas. (PubMed id 8665505)^{1, 3, 4} Takahashi H.... Boyd J. (1996)
BRCA2 germline mutations in male breast cancer cases and breast cancer families. (PubMed id 8673091)^{1, 3, 4} Couch F.J.... Weber B.L. (1996)
BRCA2 germline mutations in familial pancreatic carcinoma. (PubMed id 12569143)^{1, 3, 4} Hahn S.A....Bartsch D.K. (2003)
[Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai] (PubMed id 16324400)^{1, 3, 6} Song C.G....Shao Z.M. (2005)
A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer. (PubMed id 14647210)^{1, 3, 6} Jakubowska A....Lubinski J. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for BRCA2	Genetics and Cytogenetics in Oncology and Haematology
Fanconi Anemia Mutation Database	http://www.rockefeller.edu/fanconi/mutate/jumpd1.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRCA2
NIEHS-SNPs	http://egp.gs.washington.edu/data/brca2/
Wikipedia	http://en.wikipedia.org/wiki/BRCA2

Intellectual Property for BRCA2 gene
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Patent Information for BRCA2 gene:

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GeneCards and IP:

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

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Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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Products for BRCA2:

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ovarian cancer, familial
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BRCA2 Gene

protein-coding GIFtS: 71

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