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BRCA2 Gene

protein-coding GIFtS: 71

GC13P013701

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)

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

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

Export aliases for BRCA2 gene to outside databases

Previous GC identifers: GC13P030875 GC13P026876 GC13P031826 GC13P030687 GC13P031787 GC13P032889

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

Entrez Gene summary for BRCA2:

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian

cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous

recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called

the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is

considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of

the wild-type allele. (provided by RefSeq)

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

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 (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BRCA2 gene promoter:
         NF-kappaB1   NF-kappaB   CREB   p53   deltaCREB   GR-alpha   RFX1   MIF-1   MEF-2A   AREB6
         Other transcription factors

Search SABiosciences Chromatin IP Primers for BRCA2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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 gene densities for chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13P013701: view genomic region (about GC identifiers)

Start:	13,701,252 bp from pter
End:	13,785,592 bp from pter
Size:	84,341 bases
Orientation:	plus strand

1 alternative location:

Chr13+ 32,889,611-32,973,347

RefSeq DNA sequence:

NC_000013.10 NT_024524.14

(According to ¹UniProtKB, neXtProt, 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, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587 (See protein sequence)

Recommended Name: Breast cancer type 2 susceptibility protein

Size: 3418 amino acids; 384225 Da

Subunit: Monomer and dimer. Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. 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

PDB structure from and Proteopedia :

1N0W (3D)

3EU7 (3D)

Secondary accessions: O00183 O15008 Q13879 Q5TBJ7

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

Post-translational modifications:

Phosphorylated by ATM upon irradiation-induced DNA damage¹

Ubiquitinated in the absence of DNA damage; this does not lead to proteasomal degradation. In contrast, ubiquitination

in response to DNA damage leads to proteasomal degradation¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000050.2

ENSEMBL proteins:

ENSP00000369497

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for BRCA2
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates
	GenScript Custom Purified and Recombinant Proteins Services for BRCA2
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	17286961
GO:0005654	nucleoplasm	EXP	19369211
GO:0005730	NOT nucleolus	IDA	18029348
GO:0005737	cytoplasm	IDA	18029348
GO:0005813	centrosome	IDA	17286961

About this table

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
	Browse OriGene Antibodies
	GenScript Superior Antibodies for BRCA2
	Novus Biologicals Antibodies for BRCA2
	Browse antibodies at Epitomics

Assays for BRCA2:

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

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

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 BRCA2_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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for BRCA2 Sigma-Aldrich shRNA Panels and shRNA for BRCA2
		OriGene 29mer shRNA kits in GFP-retroviral vector: BRCA2 OriGene shRNA RFP: BRCA2 OriGene basic RS shRNA: BRCA2 OriGene siRNA: BRCA2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of BRCA2

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of BRCA2
		1 SABiosciences Assays for microRNA that regulate BRCA2:
		hsa-miR-1245

Gene
Editing:

Sigma-Aldrich CompoZr Knockout ZFN for BRCA2

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 OriGene 3'-UTR clone: BRCA2 Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for BRCA2
		Sino Biological Human cDNA Clone for BRCA2

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for BRCA2

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

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

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	--
GO:0004402	NOT histone acetyltransferase activity	IDA	9824164
GO:0005515	protein binding	IPI	17515903

About this table

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, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

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" (powered by Ingenuity) Pathways for BRCA2

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

3 Kegg Pathways (Kegg details for BRCA2):

	hsa03440 Homologous recombination
	hsa05200 Pathways in cancer
	hsa05212 Pancreatic cancer

SABiosciences Pathway-Focused PCR Arrays including BRCA2 (see all 6): PAHS-004A PAHS-020A

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for BRCA2

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
ABL1	P00519¹^,²	EBI-79792,EBI-375543 MINT-7243738
FYN	P06241¹^,²	EBI-79792,EBI-515315 MINT-7247350
FANCD2	Q9BXW9¹	STRING: ENSP00000287647 EBI-79792,EBI-359343
SHFM1	P60896¹	STRING: ENSP00000248566 EBI-79792,EBI-79819

About this table

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

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

About this table

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)
About This Section

BRCA2 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BRCA2
10/48 Novoseek chemical compound relationships for BRCA2 gene (see all 48)

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)

About this table

1 PharmGKB drug compound relationship for BRCA2 gene

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

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for BRCA2 Sigma-Aldrich shRNA Panels and shRNA for BRCA2
		OriGene 29mer shRNA kits in GFP-retroviral vector: BRCA2 OriGene shRNA RFP: BRCA2 OriGene basic RS shRNA: BRCA2 OriGene siRNA: BRCA2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of BRCA2

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of BRCA2
		1 SABiosciences Assays for microRNA that regulate BRCA2:
		hsa-miR-1245

Clones:		Browse FLAG tag genes 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 OriGene 3'-UTR Clone: BRCA2 Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for BRCA2

Primers:		OriGene genome-wide validated SYBR primer pairs: BRCA2 Browse OriGene validated miRNA SYBR primer pairs
		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):

BQ439258 BX102368 BC026160 AL602008 AL044849 AI355687 BC047568 BQ226936

U43746 NM_000059 BM839248 CF143354 AA280905 BG772619 BG773203 AA740751

AA765738 AI688632 H48122 BG773127 AL601892 BM171992 BG290037 BV183238

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, and UCSC links where relevant:

ENST00000380152(uc001uua.1 uc001uub.1) ENST00000470094

(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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

BRCA2 expression in normal and diseased human tissues

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	--	--	--	--	--	--	--

About this table

BRCA2 for expression About GeneDecksing

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

BRCA2 gene electronic northern expression

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 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for BRCA2: PPH00321A

SABiosciences Expression via Pathway-Focused PCR Arrays including BRCA2 (see all 6): PAHS-004A PAHS-020A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for BRCA2 gene from 5/6 species (see all 6)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BRCA2¹	--	breast cancer 2, early onset	82.88(n) 71.13(a)	474180 NM_001006653.4 NP_001006654.2
chimpanzee (Pan troglodytes)	BRCA2¹	--	breast cancer 2, early onset	99.38(n) 99.09(a)	452526 XM_509619.2 XP_509619.2
rat (Rattus norvegicus)	Brca2¹	--	breast cancer 2	72.62(n) 59.07(a)	360254 NM_031542.1 NP_113730.1
mouse (Mus musculus)	Brca2^{1 , 5}	5 (89.52 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 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(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, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 13 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs144848^1,2	C,F,O,A,	32906729(-)	`CTGATA/C/G/T TGCTA`	2	N H	ref¹ mis¹		43		NS MN EA NA WA	3560
rs169546^1,2	A	32942948(+)	`tttggG/Tttttt`	1	--	int¹		0	--	--	--	--
rs169547^1,2	C,F,H,	32929387(-)	`CAGCTA/C/G/T CTGCT`	2	A V	ref¹ mis¹		28		MN NS EA NA WA	2116
rs176176^1,2	--	32946948(+)	`ttcatC/Ttgaga`	1	--	int¹		0	--	--	--	--
rs189979^1,2	--	32901697(-)	`cctgaG/Ttagct`	1	--	int¹		0	--	--	--	--
rs206067^1,2	C,F,H,	32946011(-)	`ttagaC/Tacaat`	1	--	int¹		12		NS EA NA WA	616
rs206068^1,2	C,H,	32946415(-)	`tgagaA/Gggaat`	1	--	int¹		7		NA WA	14
rs206069^1,2	C,F,A,H,	32928317(-)	`GATGCG/ACGCAA`	1	--	int¹		9		NS NA WA	198
rs206070^1,2	C,F,	32896846(-)	`actggC/Tcccaa`	1	--	int¹		6		NS EA NA	558
rs206071^1,2	C,F,H	32899878(-)	`aacacA/Ggtgaa`	1	--	int¹		8		NS NA WA	190

About this table

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

QIAGEN SeqTarget long-range PCR primers for resequencing BRCA2

(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, and/or TGDB.)
About This Section

BRCA2 for disorders About GeneDecksing

OMIM: 600185

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587

Defects in BRCA2 are a cause of susceptibility to breast cancer (BC) [MIM:114480]. A common malignancy

originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive

ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous.

Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than

one locus can be involved in different families or even in the same case

Defects in BRCA2 are the cause of pancreatic cancer type 2 (PNCA2) [MIM:613347]. It is a malignant neoplasm of

the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop

from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue

Defects in BRCA2 are a cause of susceptibility to breast-ovarian cancer familial type 2 (BROVCA2)

[MIM:612555]. A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic

features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of

bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast

cancer among men, increased incidence of tumors of other specific organs, such as the prostate

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

disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated

with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of

malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal

instability (increased chromosome breakage) and defective DNA repair

Defects in BRCA2 are associated with glioma type 3 susceptibility (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

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

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)

About this table

1 PharmGKB disease relationship for BRCA2 gene

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

About this table

Genatlas disease: BRCA2

familial breast carcinoma,2,with a high incidence of male breast cancer,sporadic or familial,and of

laryngeal,prostate,ovarian carcinomas (see TSG13D)

GeneTests: BRCA2

Fanconi Anemia

Locus Specific Mutation Databases (LSDB): BRCA2
Human Gene Mutation Database (HGMD): BRCA2
Genetic Association Database (GAD): BRCA2
Human Genome Epidemiology (HuGE) Navigator: BRCA2 (694 documents)
Tumor Gene Database (TGDB): BRCA2

Export disorders and mutations for BRCA2 gene to outside databases

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

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

10/1692 PubMed articles for BRCA2 gene, integrated from 7 sources (see all 1692):
(articles sorted by number of sources associating them with BRCA2)

Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. (PubMed id 14670928)^{1, 2, 4} Hirsch B.... D'Andrea A.D. (2004)
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. (PubMed id 11062481)^{1, 2, 4} Healey C.S.... Ponder B.A.J. (2000)
Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. (PubMed id 11948477)^{1, 2, 7} Kwiatkowska E.... Mackiewicz A. (2002)
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. (PubMed id 14722926)^{1, 2, 7} Valarmathi M.T.... Das S.N. (2004)
BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage. (PubMed id 15314155)^{1, 2, 7} Schoenfeld A.R....Aaronson S.A. (2004)
Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin. (PubMed id 15199141)^{1, 2, 7} Wang X.Z.... D'Andrea A.D. (2004)
BRCA2 germline mutations in familial pancreatic carcinoma. (PubMed id 12569143)^{1, 2, 7} Hahn S.A....Bartsch D.K. (2003)
A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer. (PubMed id 14647210)^{1, 4, 7} Jakubowska A....Lubinski J. (2003)
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. (PubMed id 11857015)^{1, 4, 7} Antoniou A.C....Easton D.F. (2002)
BRCA2 germline mutations in male breast cancer cases and breast cancer families. (PubMed id 8673091)^{1, 2, 7} Couch F.J.... Weber B.L. (1996)

(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

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Microsatellite Instability
Genetic Susceptibility
Retinoblastoma
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BREAST MALE CARCINOMA
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Dysgerminoma
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Adenocarcinoma
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Cancer
hereditary nonpolyposis colon cancer
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FALLOPIAN TUBE CARCINOMA
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Gynecomastia
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ENDOMETRIAL CARCINOMA
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OVARIAN CARCINOMA
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