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	BCL2L11
Symbol Alias	BOD, BimL, BimEL, BimS, BIM
Approved Name	BCL2-like 11 (apoptosis facilitator)
Location	2q13
Position	chr2:111119378-111168447, 1
External Links	HGNC: 994 Entrez Gene: 10018 Ensembl: ENSG00000153094 UCSC: uc002tgv.1
No. of Studies	1 (Positive: 0; Negative: 1; 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
Gonzalez, S., 2014	SNP: rs744531	The associated SNP in this gene showed no significant association with BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 53)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007420	brain development	biological process	IEA	25

GO terms by database search (count: 52)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0097141	BIM-BCL-2 complex	cellular component	IDA[21671007]	1
GO:1903896	positive regulation of IRE1-mediated unfolded protein response	biological process	TAS[22013210]	2
GO:0090200	positive regulation of release of cytochrome c from mitochondria	biological process	IGI[21041309]; IMP[17289999]	3
GO:0008017	microtubule binding	molecular function	IDA[21671007]; IEA	10
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	biological process	TAS	6
GO:0097140	BIM-BCL-xl complex	cellular component	IDA[21671007]	1
GO:0012505	endomembrane system	cellular component	IEA	9
GO:0048538	thymus development	biological process	IEA	5
GO:0048070	regulation of developmental pigmentation	biological process	IEA	1
GO:0005741	mitochondrial outer membrane	cellular component	TAS	10
GO:0005874	microtubule	cellular component	IDA[21671007]	24
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	biological process	IEA	7
GO:0005515	protein binding	molecular function	IPI[14596824]	563
GO:0070242	thymocyte apoptotic process	biological process	IEA	2
GO:0035148	tube formation	biological process	IEA	1
GO:0045787	positive regulation of cell cycle	biological process	IEA	4
GO:0005829	cytosol	cellular component	IDA[21671007]; TAS	223
GO:0008584	male gonad development	biological process	IEA	4
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IEA	4
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	biological process	IMP[21671007]; TAS	2
GO:0006915	apoptotic process	biological process	TAS[10381623]	39
GO:0043029	T cell homeostasis	biological process	IEA	5
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	biological process	IDA[11546872]	5
GO:0060139	positive regulation of apoptotic process by virus	biological process	IEA	1
GO:0034976	response to endoplasmic reticulum stress	biological process	IDA[22761832]	9
GO:0048563	post-embryonic organ morphogenesis	biological process	IEA	1
GO:0001822	kidney development	biological process	IEA	13
GO:0042475	odontogenesis of dentin-containing tooth	biological process	IEA	8
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:1902237	positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	biological process	TAS[22013210]	1
GO:0097193	intrinsic apoptotic signaling pathway	biological process	TAS	8
GO:0001782	B cell homeostasis	biological process	IEA	3
GO:0060154	cellular process regulating host cell cycle in response to virus	biological process	IEA	1
GO:0002262	myeloid cell homeostasis	biological process	IEA	1
GO:0046620	regulation of organ growth	biological process	IEA	2
GO:0032464	positive regulation of protein homooligomerization	biological process	IDA[21041309]	1
GO:0097190	apoptotic signaling pathway	biological process	TAS	13
GO:0007160	cell-matrix adhesion	biological process	IEA	11
GO:0043065	positive regulation of apoptotic process	biological process	IMP[17289999]; TAS	25
GO:2000271	positive regulation of fibroblast apoptotic process	biological process	IDA[11997495]	1
GO:0043583	ear development	biological process	IEA	2
GO:1902263	apoptotic process involved in embryonic digit morphogenesis	biological process	IEA	1
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0007283	spermatogenesis	biological process	IEA	29
GO:1902110	positive regulation of mitochondrial membrane permeability involved in apoptotic process	biological process	IEA	1
GO:0030879	mammary gland development	biological process	IEA	5
GO:0019898	extrinsic component of membrane	cellular component	IEA	8
GO:0001783	B cell apoptotic process	biological process	IEA	1
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IDA[21671007]	7
GO:0048066	developmental pigmentation	biological process	IEA	2
GO:0043525	positive regulation of neuron apoptotic process	biological process	IEA	11
GO:0048536	spleen development	biological process	IEA	4

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 11)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
BCL2L11	MEX3D	NO	in vitro;yeast 2-hybrid	14769789
BCL2L11	YWHAB	NO	in vitro;in vivo	16282323
BCL2L11	MAPK9	NO	in vitro	12818176
BCL2L11	BCL2L2	NO	in vitro;in vivo;yeast 2-hybrid	9430630 , 9731710 , 16697956
BCL2L11	MCL1	NO	in vivo;yeast 2-hybrid	10837489 , 16213503
BCL2L11	DYNLL1	NO	in vitro;in vivo;yeast 2-hybrid	10198631 , 12591950
BCL2L11	BCL2L1	NO	in vitro;in vivo	11859372 , 10198631 , 9430630 , 14596824 , 16697956
BCL2L11	BCL2A1	NO	in vitro	16697956
BCL2L11	MAPK8	NO	in vitro;in vivo	12591950 , 12818176
BCL2L11	AKT1	YES	in vitro;in vivo	16282323
BCL2L11	VDAC1	NO	in vivo	12118373

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs744531	chr2:111193476 - 111193476(1)	downstream_gene_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2q12.3-q22.1	chr2:106700000-141500000	1 (0/1/0)
2p13	chr2:108700000-112200000	2 (2/0/0)
Chr 2	chr2:0-242193529	3 (0/3/0)
2p11-q14	chr2:83100000-129100000	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: 0)

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

Reference	ID in SZGene	Result Category
17553464	672	Negative

Gene relationship with MDD

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Region: chr2:111119378..111168447 View in gBrowse