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	BCL2
Symbol Alias	Bcl-2, PPP1R50
Approved Name	B-cell CLL/lymphoma 2
Name Alias	protein phosphatase 1, regulatory subunit 50
Location	18q21.3
Position	chr18:63123346-63320128, -1
External Links	HGNC: 990 Entrez Gene: 596 Ensembl: ENSG00000171791 UCSC: uc002lit.1
No. of Studies	2 (Positive: 0; Negative: 2; 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
Soeiro-de-Souza, M. G., 2013		Genotype and allele A frequency of the Bcl-2 did not differ between BD and control group, but the present findings reinforce a key role for glutamatergic system dysfunction in the pathophysiology of BD, potentially involving modulatory effects by Bcl-2 in the ACC.	Negative	Comment on Study
Uemura, T.,2011	SNP: rs956572	No significant differences were observed in the genotype frequencies or allele frequencies compared with healthy subjects among BD-I, BD-II.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 136)

GO terms by PBA (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0033077	T cell differentiation in thymus	biological process	IEA	3
GO:0043565	sequence-specific DNA binding	molecular function	IDA[12086670]	29
GO:0043209	myelin sheath	cellular component	IEA	2
GO:0045087	innate immune response	biological process	TAS	49
GO:0005634	nucleus	cellular component	IDA[7546744]	283
GO:0016020	membrane	cellular component	IDA[7896880]	137
GO:0030890	positive regulation of B cell proliferation	biological process	IMP[17875758]	3
GO:0007565	female pregnancy	biological process	NAS[11530860]	15

GO terms by database search (count: 128)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0010332	response to gamma radiation	biological process	IEA	5
GO:0035265	organ growth	biological process	IEA	4
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	biological process	IBA	5
GO:0048538	thymus development	biological process	IEA	5
GO:0006808	regulation of nitrogen utilization	biological process	IEA	1
GO:0003014	renal system process	biological process	IEA	2
GO:0051607	defense response to virus	biological process	IDA[10620603]	6
GO:0009314	response to radiation	biological process	NAS[15799693]	4
GO:0030307	positive regulation of cell growth	biological process	IDA[8022822]	8
GO:0046902	regulation of mitochondrial membrane permeability	biological process	ISS[9843949]	2
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	biological process	IGI[8358790]	8
GO:0032848	negative regulation of cellular pH reduction	biological process	IDA[10506221]	1
GO:0048546	digestive tract morphogenesis	biological process	IEA	2
GO:0043496	regulation of protein homodimerization activity	biological process	IDA[9111042]	2
GO:0022898	regulation of transmembrane transporter activity	biological process	IDA[9219694]	2
GO:0045636	positive regulation of melanocyte differentiation	biological process	IEA	1
GO:0042149	cellular response to glucose starvation	biological process	IEA	7
GO:0042100	B cell proliferation	biological process	IDA[1373874]	2
GO:0051402	neuron apoptotic process	biological process	TAS[16167175]	4
GO:0010523	negative regulation of calcium ion transport into cytosol	biological process	IEA	2
GO:0033033	negative regulation of myeloid cell apoptotic process	biological process	IEA	1
GO:2000811	negative regulation of anoikis	biological process	IMP[15006356]	3
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	biological process	TAS	6
GO:0034097	response to cytokine	biological process	IDA[9184696]	4
GO:0097193	intrinsic apoptotic signaling pathway	biological process	TAS	8
GO:0032835	glomerulus development	biological process	IEA	2
GO:0071456	cellular response to hypoxia	biological process	IEA	13
GO:0055085	transmembrane transport	biological process	IDA[9219694]	77
GO:0002320	lymphoid progenitor cell differentiation	biological process	IEA	1
GO:0033138	positive regulation of peptidyl-serine phosphorylation	biological process	IEA	10
GO:0005829	cytosol	cellular component	IEA	223
GO:0046982	protein heterodimerization activity	molecular function	IPI[9111042]	42
GO:0001782	B cell homeostasis	biological process	IEA	3
GO:0015267	channel activity	molecular function	IDA[9219694]	4
GO:0022612	gland morphogenesis	biological process	IEA	2
GO:0006470	protein dephosphorylation	biological process	IEA	10
GO:0043524	negative regulation of neuron apoptotic process	biological process	IDA[7546744]	26
GO:0005515	protein binding	molecular function	IPI[10837489]	563
GO:0031069	hair follicle morphogenesis	biological process	IEA	4
GO:0002931	response to ischemia	biological process	IEA	4
GO:0048743	positive regulation of skeletal muscle fiber development	biological process	IEA	1
GO:0051902	negative regulation of mitochondrial depolarization	biological process	TAS[9027314]	1
GO:0001836	release of cytochrome c from mitochondria	biological process	ISS[9843949]; NAS[9027314]	3
GO:0046671	negative regulation of retinal cell programmed cell death	biological process	IEA	1
GO:0000209	protein polyubiquitination	biological process	IDA[16717086]	7
GO:0048589	developmental growth	biological process	IEA	7
GO:0040018	positive regulation of multicellular organism growth	biological process	IEA	8
GO:0010559	regulation of glycoprotein biosynthetic process	biological process	IEA	1
GO:0006974	cellular response to DNA damage stimulus	biological process	IMP[17875758]	14
GO:0018107	peptidyl-threonine phosphorylation	biological process	IEA	3
GO:0042493	response to drug	biological process	IDA[36599]; IMP[17875758]	57
GO:0010224	response to UV-B	biological process	IEA	1
GO:0046930	pore complex	cellular component	IDA[9219694]	1
GO:0048599	oocyte development	biological process	IEA	2
GO:0008584	male gonad development	biological process	IEA	4
GO:0043497	regulation of protein heterodimerization activity	biological process	IDA[9111042]	2
GO:0043085	positive regulation of catalytic activity	biological process	IEA	4
GO:0016248	channel inhibitor activity	molecular function	IDA[9219694]	1
GO:0001503	ossification	biological process	IEA	5
GO:0014042	positive regulation of neuron maturation	biological process	IEA	2
GO:0014031	mesenchymal cell development	biological process	IEA	1
GO:0051924	regulation of calcium ion transport	biological process	IDA[8022822]	8
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	biological process	IDA[11684014]	2
GO:0005737	cytoplasm	cellular component	IDA[11530860]	322
GO:0043066	negative regulation of apoptotic process	biological process	IDA[10506221]; IMP[17289999]	46
GO:0033689	negative regulation of osteoblast proliferation	biological process	IEA	1
GO:0042802	identical protein binding	molecular function	IPI[18835031]	44
GO:0030308	negative regulation of cell growth	biological process	IEA	11
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52
GO:0043583	ear development	biological process	IEA	2
GO:0001656	metanephros development	biological process	IEA	8
GO:2001234	negative regulation of apoptotic signaling pathway	biological process	IMP[20097879]	1
GO:0045069	regulation of viral genome replication	biological process	IEA	1
GO:0006915	apoptotic process	biological process	IDA[36599]; TAS	39
GO:0001952	regulation of cell-matrix adhesion	biological process	IEA	2
GO:0016049	cell growth	biological process	IEA	7
GO:0010507	negative regulation of autophagy	biological process	TAS[18309324]	3
GO:0005741	mitochondrial outer membrane	cellular component	IDA[8402648]; TAS	10
GO:0031625	ubiquitin protein ligase binding	molecular function	IPI[20889974]	25
GO:0008134	transcription factor binding	molecular function	IEA	28
GO:0051434	BH3 domain binding	molecular function	IPI[9111042]	1
GO:0007569	cell aging	biological process	IEA	5
GO:0030318	melanocyte differentiation	biological process	IEA	3
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	biological process	IEA	7
GO:0042542	response to hydrogen peroxide	biological process	IEA	4
GO:0050853	B cell receptor signaling pathway	biological process	IMP[17875758]	4
GO:0001541	ovarian follicle development	biological process	IEA	4
GO:0051384	response to glucocorticoid	biological process	IEA	11
GO:0009636	response to toxic substance	biological process	IDA[16307838]	12
GO:0072593	reactive oxygen species metabolic process	biological process	IEA	5
GO:0048753	pigment granule organization	biological process	IEA	1
GO:0005739	mitochondrion	cellular component	IDA[7896880]	75
GO:0032469	endoplasmic reticulum calcium ion homeostasis	biological process	TAS[18309324]	3
GO:0035094	response to nicotine	biological process	IDA[12421819]	10
GO:0021747	cochlear nucleus development	biological process	IEA	1
GO:0031965	nuclear membrane	cellular component	IDA[1502141]	15
GO:0001658	branching involved in ureteric bud morphogenesis	biological process	IEA	6
GO:0007409	axonogenesis	biological process	IEA	11
GO:0051881	regulation of mitochondrial membrane potential	biological process	ISS[9843949]	3
GO:0002020	protease binding	molecular function	IDA[10620603]	10
GO:0043375	CD8-positive, alpha-beta T cell lineage commitment	biological process	IEA	1
GO:0001662	behavioral fear response	biological process	IEA	16
GO:0006959	humoral immune response	biological process	TAS[1908951]	5
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	biological process	TAS	2
GO:0048041	focal adhesion assembly	biological process	IEA	4
GO:0043029	T cell homeostasis	biological process	IEA	5
GO:0005783	endoplasmic reticulum	cellular component	IDA[8402648]	49
GO:0030279	negative regulation of ossification	biological process	IEA	2
GO:0031103	axon regeneration	biological process	IEA	3
GO:0007015	actin filament organization	biological process	IEA	7
GO:0014911	positive regulation of smooth muscle cell migration	biological process	IEA	3
GO:0009791	post-embryonic development	biological process	IEA	10
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	biological process	IEA	4
GO:0031647	regulation of protein stability	biological process	IEA	5
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	biological process	IDA[15776018]	2
GO:0042803	protein homodimerization activity	molecular function	IPI[9111042]	71
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	biological process	IDA[10597216]	5
GO:0048536	spleen development	biological process	IEA	4
GO:0002326	B cell lineage commitment	biological process	IEA	1
GO:0048873	homeostasis of number of cells within a tissue	biological process	IEA	2
GO:0035872	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	biological process	TAS	5
GO:0010039	response to iron ion	biological process	IDA[11264898]	4
GO:0051721	protein phosphatase 2A binding	molecular function	IEA	2
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	biological process	IEA	1
GO:0071310	cellular response to organic substance	biological process	IEA	5
GO:0018105	peptidyl-serine phosphorylation	biological process	IEA	11
GO:0006582	melanin metabolic process	biological process	IEA	1
GO:0030336	negative regulation of cell migration	biological process	IEA	12

Gene related KEGG pathways (count: 8)

KEGG pathways by PBA (count: 3)

ID	Name	No. of Genes in BDgene
hsa04510	Focal adhesion	22
hsa05222	Small cell lung cancer	8
hsa04210	Apoptosis	12

KEGG pathways by database search (count: 5)

ID	Name	No. of Genes in BDgene
hsa01510	Neurodegenerative Diseases	10
hsa05210	Colorectal cancer	14
hsa05215	Prostate cancer	18
hsa05030	Amyotrophic lateral sclerosis (ALS)	5
hsa05060	Prion disease	7

Gene related BioCarta pathways (count: 14)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
badPathway	Regulation of BAD phosphorylation	9

BioCarta pathways by database search (count: 13)

ID	Name	No. of Genes in BDgene
chemicalPathway	Apoptotic Signaling in Response to DNA Damage	2
il7Pathway	IL-7 Signal Transduction	6
p53Pathway	p53 Signaling Pathway	1
il2rbPathway	IL-2 Receptor Beta Chain in T cell Activation	6
prionPathway	Prion Pathway	1
ceramidePathway	Ceramide Signaling Pathway	1
keratinocytePathway	Keratinocyte Differentiation	5
melanocytepathway	Melanocyte Development and Pigmentation Pathway	2
HivnefPathway	HIV-I Nef: negative effector of Fas and TNF	2
telPathway	Telomeres, Telomerase, Cellular Aging, and Immortality	4
deathPathway	Induction of apoptosis through DR3 and DR4/5 Death Receptors	1
hsp27Pathway	Stress Induction of HSP Regulation	2
mitochondriaPathway	Role of Mitochondria in Apoptotic Signaling	1

Gene related interactors from protein-protein interactions data in HPRD (count: 74)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
BCL2	BBC3	NO	in vitro;in vivo	11463392 , 16697956
BCL2	BAK1	NO	in vitro;in vivo	11728179 , 9463381 , 11206074
BCL2	PSEN1	NO	in vitro;in vivo;yeast 2-hybrid	10521466
BCL2	TP53AIP1	NO	in vivo	12019168
BCL2	RTN4	YES	in vitro;in vivo;yeast 2-hybrid	11126360
BCL2	BNIP3	NO	in vitro;in vivo;yeast 2-hybrid	10625696
BCL2	PMAIP1	NO	in vivo	10807576
BCL2	MAPK3	NO	in vitro	10677502
BCL2	MYC	NO	in vitro	15210690
BCL2	BNIPL	NO	in vitro;yeast 2-hybrid	12901880
BCL2	PPP1CA	NO	in vitro;in vivo;yeast 2-hybrid	11390485
BCL2	PKMYT1	NO	in vivo	11326318
BCL2	SPNS1	NO	in vivo	12815463
BCL2	PRKACA	NO	in vitro	11158204 , 7929424 , 9115213
BCL2	CPT1A	NO	in vitro;in vivo;yeast 2-hybrid	9070836
BCL2	CASP3	NO	in vitro;in vivo	11948397 , 9395403
BCL2	RAD9A	NO	in vivo;yeast 2-hybrid	10620799
BCL2	TP53	NO	in vitro;in vivo	12667443
BCL2	BCAP31	NO	in vitro;in vivo	9334338
BCL2	BCL2L1	NO	in vitro	11583631
BCL2	BID	NO	in vitro;in vivo	9727491 , 11583631 , 9463381 , 12624108 , 16697956
BCL2	HRAS	NO	in vivo	10490827
BCL2	ATP2A2	YES	in vivo	9788433
BCL2	PPP2CA	NO	in vitro	9852076
BCL2	BAG3	NO	in vitro;in vivo	11513873
BCL2	FKBP8	NO	in vitro;in vivo;yeast 2-hybrid	12510191
BCL2	RRAS	NO	in vivo;yeast 2-hybrid	8232588
BCL2	BFAR	NO	in vivo	10716992
BCL2	BCL2L11	YES	in vitro;in vivo	9430630 , 10198631 , 9463381 , 16697956
BCL2	TMBIM6	NO	in vivo	9660918
BCL2	TP53BP2	NO	in vitro;yeast 2-hybrid	8668206
BCL2	BAX	NO	in vitro;in vivo;yeast 2-hybrid	9111042 , 8358790 , 9463381 , 16642033 , 17097560 , 15231068
BCL2	HSPA1A	YES	in vivo	10354271
BCL2	PARP1	NO	in vitro;in vivo	11790116
BCL2	BMF	NO	in vivo	11546872 , 16697956
BCL2	BAG4	NO	in vitro	11527400
BCL2	KRAS	NO	in vivo	10490827
BCL2	PXN	NO	in vitro	10417825
BCL2	MAPK14	NO	in vivo	11495898
BCL2	BIK	NO	in vitro;in vivo	12853473 , 9525867 , 9463381 , 16697956
BCL2	NLRP1	NO	in vitro;in vivo	17418785
BCL2	PML	NO	in vitro	15231068
BCL2	BLK	NO	in vivo	9525867
BCL2	ITM2B	NO	in vitro	12082633
BCL2	MOAP1	NO	in vitro;in vivo	11060313
BCL2	CDK2	NO	in vivo	15619620
BCL2	BNIP1	NO	in vitro;yeast 2-hybrid	10217402
BCL2	SMN1	NO	in vitro;yeast 2-hybrid	9389483
BCL2	NR4A1	NO	in vitro;in vivo;yeast 2-hybrid	14980220 , 18835031
BCL2	MAPK1	NO	in vivo	15225643 , 10567572 , 12039864
BCL2	BCL2L14	NO	in vivo	11054413
BCL2	BNIP2	NO	in vitro;yeast 2-hybrid	12901880 , 7954800
BCL2	CYCS	NO	in vivo	10622714
BCL2	TOMM20	NO	in vitro	9119086
BCL2	CASP8	NO	in vivo	11406564
BCL2	BAG1	NO	in vitro	9305631
BCL2	BECN1	NO	in vitro;in vivo;yeast 2-hybrid	9765397
BCL2	PIN1	NO	in vivo	11988841
BCL2	PPP3CA	NO	in vivo	9109491 , 7593193
BCL2	MAPK8	NO	in vivo	10567572 , 12039864 , 15225643
BCL2	NRAS	NO	in vivo	10490827
BCL2	HRK	NO	in vivo;yeast 2-hybrid	9130713 , 10075695
BCL2	SF1	NO	in vitro	8668206
BCL2	SOD1	NO	in vitro;in vivo	15233914
BCL2	PPP2R5A	NO	in vivo	11929874
BCL2	ITPR1	NO	in vitro	15613488
BCL2	BCLAF1	NO	in vitro;yeast 2-hybrid	10330179
BCL2	MAPK11	NO	in vitro	11495898
BCL2	PRKCA	NO	in vivo	9738012
BCL2	BAD	NO	in vitro;in vivo;yeast 2-hybrid	7834748 , 11483855 , 9463381 , 16697956 , 19168699
BCL2	BNIP3L	YES	in vitro;in vivo;yeast 2-hybrid	10467396 , 9973195
BCL2	RAF1	NO	in vitro;in vivo	8929532 , 8910675
BCL2	BCL2L10	NO	in vivo	11278245
BCL2	NMT2	NO	in vivo	16530191

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)
rs956572	chr18:63153338 - 63153338(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	2(0/2/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 8)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
18q	chr18:18500000-80373285	1 (0/1/0)
18q12.3-q21.1	chr18:39500000-63900000	1 (1/0/0)
18q12-21	chr18:27500000-63900000	1 (0/1/0)
18q12.3-q22.1	chr18:39500000-69100000	1 (0/1/0)
18q21	chr18:45900000-63900000	3 (2/1/0)
18q21-23	chr18:45900000-80373285	1 (1/0/0)
18q21-q22	chr18:45900000-75400000	1 (0/1/0)
Chr 18	chr18:0-80373285	1 (1/0/0)

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
21320251	No significant differences were observed in the genotype frequencies or allele frequencies compared with healthy subjects among MDD patients.	Negative

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

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Region: chr18:63123346..63320128 View in gBrowse