Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	BRCA2
Previous Symbol	FANCD1, FACD, FANCD
Symbol Alias	FAD, FAD1, BRCC2, XRCC11
Approved Name	breast cancer 2, early onset
Previous Name	Fanconi anemia, complementation group D1
Name Alias	BRCA1/BRCA2-containing complex, subunit 2
Location	13q12-q13
Position	chr13:32315474-32400266, 1
External Links	HGNC: 1101 Entrez Gene: 675 Ensembl: ENSG00000139618 UCSC: uc001uub.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Tesli, M.,2010	SNP: rs9567552	Our findings support PALB2 and BRCA2 as risk genes specifically for BD, and suggest that altered DNA repair related to neurogenesis may be involved in BD pathophysiology.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 40)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA	283
GO:0007420	brain development	biological process	IEA	25

GO terms by database search (count: 38)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[9126734]	58
GO:0010485	H4 histone acetyltransferase activity	molecular function	IDA[9619837]	1
GO:0045931	positive regulation of mitotic cell cycle	biological process	IEA	2
GO:0051298	centrosome duplication	biological process	IMP[17286961]	3
GO:0010165	response to X-ray	biological process	IEA	3
GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	biological process	IEA	2
GO:0043966	histone H3 acetylation	biological process	IDA[9619837]	4
GO:0043234	protein complex	cellular component	IDA[9774970]	27
GO:0033593	BRCA2-MAGE-D1 complex	cellular component	IDA[15930293]	1
GO:0043967	histone H4 acetylation	biological process	IDA[9619837]	4
GO:0043015	gamma-tubulin binding	molecular function	IPI[17286961]	2
GO:0032465	regulation of cytokinesis	biological process	IEA	2
GO:0033600	negative regulation of mammary gland epithelial cell proliferation	biological process	IDA[15930293]	1
GO:0030097	hemopoiesis	biological process	IEA	7
GO:0007283	spermatogenesis	biological process	IEA	29
GO:0004402	histone acetyltransferase activity	molecular function	IDA[9824164]	5
GO:0005813	centrosome	cellular component	IDA[17286961]	34
GO:0002020	protease binding	molecular function	IPI[15314155]	10
GO:0030141	secretory granule	cellular component	IDA[8589722]	14
GO:0006302	double-strand break repair	biological process	IMP[16845393]; TAS	6
GO:0010225	response to UV-C	biological process	IEA	2
GO:0006289	nucleotide-excision repair	biological process	IMP[16845393]	4
GO:0008585	female gonad development	biological process	IEA	2
GO:0005515	protein binding	molecular function	IPI[10373512]	563
GO:0001833	inner cell mass cell proliferation	biological process	IEA	2
GO:0003697	single-stranded DNA binding	molecular function	IDA[20729832]	7
GO:0006281	DNA repair	biological process	TAS	16
GO:0010332	response to gamma radiation	biological process	IEA	5
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	biological process	IEA	3
GO:0007141	male meiosis I	biological process	IEA	1
GO:0000910	cytokinesis	biological process	IDA[17286961]	5
GO:0007569	cell aging	biological process	IEA	5
GO:0001556	oocyte maturation	biological process	IEA	3
GO:0048478	replication fork protection	biological process	IEA	2
GO:0010484	H3 histone acetyltransferase activity	molecular function	IDA[9619837]	1
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0000724	double-strand break repair via homologous recombination	biological process	IDA[20729832]; TAS	9

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05212	Pancreatic cancer	10
hsa03440	Homologous recombination	3

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
atrbrcaPathway	Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility	1

Gene related interactors from protein-protein interactions data in HPRD (count: 23)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
BRCA2	WDR16	NO	in vivo	15967112
BRCA2	HMG20B	NO	in vitro;in vivo	11207365
BRCA2	C11orf30	NO	in vitro;in vivo	14651845
BRCA2	CDK1	NO	in vitro	15800651
BRCA2	BUB1B	NO	in vitro;yeast 2-hybrid	10749118
BRCA2	TP53	NO	in vivo	9811893
BRCA2	FANCD2	NO	in vitro;in vivo	15115758
BRCA2	RAD51	NO	in vitro;in vivo;yeast 2-hybrid	9126738 , 12619154 , 11477095 , 15800651 , 15800615 , 9560268 , 10551859 , 9523196 , 9405383 , 15065660
BRCA2	KAT2B	NO	in vitro;in vivo	9824164
BRCA2	RPA1	NO	in vitro;in vivo	12527904
BRCA2	PLK1	NO	in vitro;in vivo	12815053
BRCA2	SHFM1	NO	in vivo;yeast 2-hybrid	12228710 , 10373512
BRCA2	CDK2	NO	in vitro	15800651 , 15800615
BRCA2	FANCG	NO	in vitro;in vivo;yeast 2-hybrid	16621732 , 12915460
BRCA2	SMAD3	NO	in vitro;in vivo	12165866
BRCA2	PALB2	YES	in vivo	16793542
BRCA2	STAT5A	NO	in vivo	12459499
BRCA2	BCCIP	NO	in vivo;yeast 2-hybrid	11313963
BRCA2	BRCA1	NO	in vitro;in vivo	9774970 , 11477095
BRCA2	FANCE	YES	in vitro	15199141
BRCA2	CCNE1	NO	in vitro	15800651
BRCA2	FLNA	NO	in vitro;in vivo;yeast 2-hybrid	11602572
BRCA2	CCNA2	NO	in vitro	15800651

Related other genetic factors

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9567552	chr13:32316090 - 32316090(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs1799943		chr13:32316435 - 32316435(1)	5_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
13p11.1-13q13	chr13:16500000-39500000	1 (0/0/1)
13q13	chr13:31600000-39500000	1 (0/0/1)
13q12-14	chr13:18900000-54700000	1 (0/1/0)
13q13-q14	chr13:31600000-54700000	1 (1/0/0)
Chr 13	chr13:0-114364328	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
20872766	Neither the PALB2 SNP rs420259 nor the BRCA2 SNP rs9567552 were nominally significantly associated with the SCZ phenotype in our Scandinavian sample.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
20872766	1001	Negative

Gene relationship with MDD

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Region: chr13:32315474..32400266 View in gBrowse