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	APOB
Approved Name	apolipoprotein B
Previous Name	apolipoprotein B (including Ag(x) antigen)
Location	2p24-p23
Position	chr2:21001429-21044073, -1
External Links	HGNC: 603 Entrez Gene: 338 Ensembl: ENSG00000084674 UCSC: uc002red.3
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Winham S.J., 2014	SNP: rs4665788, rs10198175	In the stratified analysis comparing the subtype of BD cases with BE to healthy controls, we identified biologically plausible genetic associations with SNPs in APOB.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 66)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA; TAS	360
GO:0007399	nervous system development	biological process	IEA	40
GO:0009615	response to virus	biological process	IEP[16548883]	5

GO terms by database search (count: 63)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001523	retinoid metabolic process	biological process	TAS	5
GO:0034361	very-low-density lipoprotein particle	cellular component	IDA[15308631]	2
GO:0034363	intermediate-density lipoprotein particle	cellular component	IDA[1917954]	2
GO:0050900	leukocyte migration	biological process	TAS	9
GO:0035473	lipase binding	molecular function	IPI[9685400]	1
GO:0008201	heparin binding	molecular function	IDA[16233946]	8
GO:0005794	Golgi apparatus	cellular component	IDA	60
GO:0032496	response to lipopolysaccharide	biological process	IEA	22
GO:0043025	neuronal cell body	cellular component	IDA[22897442]	50
GO:0005769	early endosome	cellular component	TAS	13
GO:0005615	extracellular space	cellular component	ISS[22261194]	85
GO:0034383	low-density lipoprotein particle clearance	biological process	IMP[15797858]	2
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23533145]	176
GO:0005515	protein binding	molecular function	IPI[16203724]	563
GO:0042627	chylomicron	cellular component	IDA[4363408]	2
GO:0043231	intracellular membrane-bounded organelle	cellular component	TAS[7853698]	34
GO:0071682	endocytic vesicle lumen	cellular component	TAS	4
GO:0033344	cholesterol efflux	biological process	IEA	5
GO:0034374	low-density lipoprotein particle remodeling	biological process	IMP[15797858]	5
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0050750	low-density lipoprotein particle receptor binding	molecular function	IMP[15797858]	3
GO:0015629	actin cytoskeleton	cellular component	IDA	18
GO:0034362	low-density lipoprotein particle	cellular component	IDA[4363408]	2
GO:0005829	cytosol	cellular component	TAS	223
GO:0048844	artery morphogenesis	biological process	IEA	6
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0071356	cellular response to tumor necrosis factor	biological process	IEA	7
GO:0010008	endosome membrane	cellular component	TAS	17
GO:0005576	extracellular region	cellular component	TAS	97
GO:0009791	post-embryonic development	biological process	IEA	10
GO:0010884	positive regulation of lipid storage	biological process	IDA[18322245]	1
GO:0031904	endosome lumen	cellular component	TAS	3
GO:0006898	receptor-mediated endocytosis	biological process	TAS	12
GO:0006642	triglyceride mobilization	biological process	IEA	3
GO:0005788	endoplasmic reticulum lumen	cellular component	TAS	8
GO:0009566	fertilization	biological process	IEA	2
GO:0045540	regulation of cholesterol biosynthetic process	biological process	IEA	1
GO:0010269	response to selenium ion	biological process	IEA	3
GO:0042159	lipoprotein catabolic process	biological process	IEA	2
GO:0010744	positive regulation of macrophage derived foam cell differentiation	biological process	IDA[17244792]	4
GO:0005789	endoplasmic reticulum membrane	cellular component	TAS	52
GO:0034359	mature chylomicron	cellular component	IDA[4363408]	1
GO:0007596	blood coagulation	biological process	TAS	44
GO:0017127	cholesterol transporter activity	molecular function	IMP[15797858]	4
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0005543	phospholipid binding	molecular function	IDA[7126555]	8
GO:0019433	triglyceride catabolic process	biological process	IEA	3
GO:0034360	chylomicron remnant	cellular component	TAS[6099394]	1
GO:0009743	response to carbohydrate	biological process	IEA	2
GO:0008203	cholesterol metabolic process	biological process	IMP[2563166]	5
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0042953	lipoprotein transport	biological process	IEA	2
GO:0030669	clathrin-coated endocytic vesicle membrane	cellular component	TAS	4
GO:0007603	phototransduction, visible light	biological process	TAS	6
GO:0042158	lipoprotein biosynthetic process	biological process	IEA	2
GO:0030301	cholesterol transport	biological process	IMP[2563166]	3
GO:0042157	lipoprotein metabolic process	biological process	TAS	3
GO:0071379	cellular response to prostaglandin stimulus	biological process	IEA	1
GO:0010886	positive regulation of cholesterol storage	biological process	IDA[19114110]	2
GO:0007283	spermatogenesis	biological process	IEA	29
GO:0034379	very-low-density lipoprotein particle assembly	biological process	IC[15308631]	1
GO:0042632	cholesterol homeostasis	biological process	IMP[2563166]	8
GO:0030317	sperm motility	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: 17)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
APOB	SEC61B	NO	in vivo	9565615
APOB	MTTP	NO	in vivo;yeast 2-hybrid	11358959 , 9915855
APOB	PDIA4	NO	in vitro;in vivo	12397072 , 9694898
APOB	LIPC	NO	in vitro	9685400
APOB	CANX	NO	in vitro;in vivo	14498830
APOB	BGN	NO	in vitro	12070165
APOB	HSP90B1	YES	in vitro;in vivo	12397072
APOB	SEC61A2	NO	in vivo	9565615
APOB	CALR	NO	in vitro;in vivo	10513896 , 12397072
APOB	HSP90AA1	YES	in vitro;in vivo	11333259
APOB	PPIB	NO	in vitro	12397072
APOB	HSPA8	NO	in vivo	9694898
APOB	HSPA5	YES	in vitro;in vivo	12397072
APOB	LDLR	NO	in vivo	12031600
APOB	HSPA1A	YES	in vitro	9252351
APOB	LRP2	NO	in vitro;in vivo	10330424
APOB	APOA1	NO	in vivo	7592581

Related other genetic factors

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4665788	chr2:20965616 - 20965616(1)		1(0/0/1)
rs10198175	chr2:20934123 - 20934123(1)		1(0/0/1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 2	chr2:0-242193529	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr2:21001429..21044073 View in gBrowse