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	BCR
Previous Symbol	D22S11, BCR1
Symbol Alias	D22S662, CML, PHL, ALL
Approved Name	breakpoint cluster region
Location	22q11
Position	chr22:23179704-23318037, 1
External Links	HGNC: 1014 Entrez Gene: 613 Ensembl: ENSG00000186716 UCSC: uc002zww.3
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Yosifova, A.,2009	SNP: rs131690, rs131702, rs140504, rs2156921, rs2213172, rs2267013, rs2267015, rs2267020, rs3761418	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Hashimoto, R.,2005(a)	SNP: rs131690, rs131702, rs140504, rs1811017, rs2156921, rs2213172, rs2267012, rs2267013, rs2267015, rs2267020, rs3761418 Haplotype: rs1811017 - rs140504 - rs131690 - rs131702(A-A-A-T), rs1811017 - rs140504 - rs131690 - rs131702(A-G-G-G)	Our results suggest that genetic variations in the BCR gene could confer susceptibility to bipolar disorder and major depressive disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 33)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005089	Rho guanyl-nucleotide exchange factor activity	molecular function	IEA	7
GO:0007420	brain development	biological process	IEA	25
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0004674	protein serine/threonine kinase activity	molecular function	IEA	27

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016301	kinase activity	molecular function	TAS	7
GO:0046777	protein autophosphorylation	biological process	IEA	16
GO:0048008	platelet-derived growth factor receptor signaling pathway	biological process	IEA	2
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0051056	regulation of small GTPase mediated signal transduction	biological process	TAS	9
GO:0051726	regulation of cell cycle	biological process	IEA	6
GO:0005829	cytosol	cellular component	TAS	223
GO:0032496	response to lipopolysaccharide	biological process	IEA	22
GO:0005524	ATP binding	molecular function	IEA	118
GO:0030336	negative regulation of cell migration	biological process	IEA	12
GO:0043547	positive regulation of GTPase activity	biological process	IEA; TAS[1903516]	30
GO:0043234	protein complex	cellular component	IDA[23382219]	27
GO:0050728	negative regulation of inflammatory response	biological process	IEA	6
GO:0014069	postsynaptic density	cellular component	ISS	26
GO:0030054	cell junction	cellular component	IEA	88
GO:0043314	negative regulation of neutrophil degranulation	biological process	IEA	1
GO:0019899	enzyme binding	molecular function	IEA	34
GO:0005515	protein binding	molecular function	IPI[10887132]	563
GO:0018108	peptidyl-tyrosine phosphorylation	biological process	TAS	12
GO:0007165	signal transduction	biological process	TAS[1657398]	136
GO:0050766	positive regulation of phagocytosis	biological process	IEA	3
GO:0042472	inner ear morphogenesis	biological process	IEA	8
GO:0006468	protein phosphorylation	biological process	TAS[1657398]	42
GO:0050885	neuromuscular process controlling balance	biological process	IEA	6
GO:0030036	actin cytoskeleton organization	biological process	IEA	9
GO:0004713	protein tyrosine kinase activity	molecular function	TAS	9
GO:0005096	GTPase activator activity	molecular function	IEA	19
GO:0007264	small GTPase mediated signal transduction	biological process	TAS	18

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05220	Chronic myeloid leukemia	6

Gene related BioCarta pathways (count: 2)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
gleevecpathway	Inhibition of Cellular Proliferation by Gleevec	4
integrinPathway	Integrin Signaling Pathway	3

Gene related interactors from protein-protein interactions data in HPRD (count: 33)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
BCR	IRS1	NO	in vivo	12560071
BCR	HCK	NO	in vivo	9178913 , 12522270 , 8955135 , 9407116
BCR	FES	NO	in vitro;in vivo	7529874 , 8955135
BCR	CRKL	NO	in vitro;yeast 2-hybrid	8978305
BCR	VAV1	NO	in vitro;in vivo;yeast 2-hybrid	11790798
BCR	PTPN6	NO	in vivo	9211920
BCR	ERCC3	NO	in vitro;in vivo	9874796
BCR	SRC	NO	in vitro	1383690
BCR	HNF1A	NO	in vivo	16442529
BCR	MAP4K5	NO	in vivo	9949177
BCR	APBA3	NO	in vitro;in vivo	15494376
BCR	TP53	NO	yeast 2-hybrid	16169070
BCR	YWHAQ	YES	in vitro	16045749
BCR	IGSF21	YES	yeast 2-hybrid	16169070
BCR	YWHAB	NO	in vitro	16045749
BCR	ABL1	NO	in vitro;in vivo	11780146
BCR	YWHAG	NO	in vitro	16045749
BCR	RASA1	NO	in vitro	1383690
BCR	GRB2	NO	in vitro;in vivo	8112292 , 9178913
BCR	JAK2	NO	in vitro;in vivo	12370803 , 12023981
BCR	GRB10	NO	in vitro;in vivo	9747873
BCR	UNC119	NO	yeast 2-hybrid	16169070
BCR	CRK	NO	yeast 2-hybrid	8978305
BCR	YWHAZ	NO	in vitro	7939633 , 16045749
BCR	ABL2	NO	in vitro	1383690
BCR	PTPN11	NO	in vivo	12115002
BCR	PLCG1	YES	in vitro	1383690
BCR	SHC1	NO	in vitro	9209414
BCR	BLK	NO	in vivo	8756631
BCR	PTPN1	NO	in vitro;in vivo	9566916
BCR	SFN	NO	in vitro	16045749
BCR	YWHAE	YES	in vivo	16045749
BCR	MLLT4	NO	in vitro;yeast 2-hybrid	12808105

Related other genetic factors

Gene related SNPs (count: 76)

Literature-origin SNPs (count: 11)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2267020	chr22:23250255 - 23250255(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	2(1/1/0)
rs1811017	chr22:23264771 - 23264771(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs131702	chr22:23308800 - 23308800(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	2(1/1/0)
rs2213172	chr22:23237323 - 23237323(1)	intron_variant; non_coding_transcript_variant	2(1/1/0)
rs2267012	chr22:23193795 - 23193795(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs2267015	chr22:23216374 - 23216374(1)	intron_variant; non_coding_transcript_variant	2(1/1/0)
rs3761418	chr22:23178907 - 23178907(1)	downstream_gene_variant; upstream_gene_variant	2(1/1/0)
rs131690	chr22:23305822 - 23305822(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	2(1/1/0)
rs2267013	chr22:23203692 - 23203692(1)	intron_variant; non_coding_transcript_variant	2(1/1/0)
rs2156921	chr22:23226876 - 23226876(1)	intron_variant; non_coding_transcript_variant	2(1/1/0)
rs140504	chr22:23285182 - 23285182(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	2(1/1/0)

LD-proxies (count: 65)

rs_ID	Location	Functional Annotation
rs2267014	chr22:23204713 - 23204713(1)	intron_variant; non_coding_transcript_variant
rs2267010	chr22:23192179 - 23192179(1)	intron_variant; non_coding_transcript_variant
rs2267028	chr22:23309116 - 23309116(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5759666	chr22:23260155 - 23260155(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs180807	chr22:23313433 - 23313433(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs5759668	chr22:23264197 - 23264197(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs5759665	chr22:23260033 - 23260033(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5751611	chr22:23223832 - 23223832(1)	intron_variant; non_coding_transcript_variant
rs1557496	chr22:23218194 - 23218194(1)	intron_variant; non_coding_transcript_variant
rs180817	chr22:23315820 - 23315820(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs6003579	chr22:23231680 - 23231680(1)	intron_variant; non_coding_transcript_variant
rs1557497	chr22:23229596 - 23229596(1)	intron_variant; non_coding_transcript_variant
rs762601	chr22:23226671 - 23226671(1)	intron_variant; non_coding_transcript_variant
rs877590	chr22:23225874 - 23225874(1)	intron_variant; non_coding_transcript_variant
rs4820548	chr22:23237668 - 23237668(1)	intron_variant; non_coding_transcript_variant
rs11090228	chr22:23289452 - 23289452(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1005184	chr22:23238800 - 23238800(1)	intron_variant; non_coding_transcript_variant
rs5759682	chr22:23288992 - 23288992(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1010609	chr22:23232307 - 23232307(1)	intron_variant; non_coding_transcript_variant
rs5759681	chr22:23287365 - 23287365(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs4822375	chr22:23233455 - 23233455(1)	intron_variant; non_coding_transcript_variant
rs5759679	chr22:23286826 - 23286826(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5751619	chr22:23288503 - 23288503(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2330369	chr22:23265255 - 23265255(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs2256725	chr22:23220704 - 23220704(1)	intron_variant; non_coding_transcript_variant
rs4822379	chr22:23303531 - 23303531(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2267016	chr22:23221793 - 23221793(1)	intron_variant; non_coding_transcript_variant
rs9608102	chr22:23302607 - 23302607(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs3788358	chr22:23274168 - 23274168(1)	intron_variant
rs5759671	chr22:23273159 - 23273159(1)	intron_variant
rs5759670	chr22:23272239 - 23272239(1)	intron_variant
rs5759669	chr22:23267313 - 23267313(1)	downstream_gene_variant; intron_variant
rs5759676	chr22:23279200 - 23279200(1)	intron_variant; upstream_gene_variant
rs5759675	chr22:23278154 - 23278154(1)	intron_variant
rs5996509	chr22:23276045 - 23276045(1)	intron_variant
rs12166802	chr22:23274246 - 23274246(1)	intron_variant
rs131682	chr22:23303227 - 23303227(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5751620	chr22:23288805 - 23288805(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs16802	chr22:23290326 - 23290326(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs2267022	chr22:23291286 - 23291286(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs3788360	chr22:23291655 - 23291655(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5751621	chr22:23293187 - 23293187(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs131686	chr22:23304766 - 23304766(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs131693	chr22:23307055 - 23307055(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5751604	chr22:23184456 - 23184456(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5996483	chr22:23192948 - 23192948(1)	intron_variant; non_coding_transcript_variant
rs4820542	chr22:23189844 - 23189844(1)	intron_variant; non_coding_transcript_variant
rs2071431	chr22:23198227 - 23198227(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5751606	chr22:23196170 - 23196170(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5751603	chr22:23182895 - 23182895(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5759631	chr22:23176859 - 23176859(1)	downstream_gene_variant; upstream_gene_variant
rs713617	chr22:23188247 - 23188247(1)	intron_variant; non_coding_transcript_variant
rs2267009	chr22:23187981 - 23187981(1)	intron_variant; non_coding_transcript_variant
rs2071433	chr22:23198726 - 23198726(1)	intron_variant; non_coding_transcript_variant
rs2071432	chr22:23198612 - 23198612(1)	intron_variant; non_coding_transcript_variant
rs2071436	chr22:23199301 - 23199301(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs3788359	chr22:23275370 - 23275370(1)	intron_variant
rs2267011	chr22:23193312 - 23193312(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5759660	chr22:23244758 - 23244758(1)	intron_variant; non_coding_transcript_variant
rs5751614	chr22:23250864 - 23250864(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5751613	chr22:23245707 - 23245707(1)	intron_variant; non_coding_transcript_variant
rs2267018	chr22:23246006 - 23246006(1)	intron_variant; non_coding_transcript_variant
rs1004040	chr22:23242945 - 23242945(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs2283805	chr22:23247755 - 23247755(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs5996505	chr22:23247296 - 23247296(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q11	chr22:15000000-25500000	1 (0/1/0)
22q11.2	chr22:17400000-25500000	2 (0/2/0)
Chr 22	chr22:0-50818468	2 (0/1/1)

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

Gene relationship with SZ

Gene relationship with MDD

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

Reference	Description	Category in MDD
15866548	Our results suggest that genetic variations in the BCR gene could confer susceptibility to bipolar disorder and major depressive disorder.	Positive

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr22:23179704..23318037 View in gBrowse