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	PCSK5
Symbol Alias	PC5, PC6, SPC6
Approved Name	proprotein convertase subtilisin/kexin type 5
Location	9q21.13
Position	chr9:75890644-76362339, 1
External Links	HGNC: 8747 Entrez Gene: 5125 Ensembl: ENSG00000099139 UCSC: uc004akc.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
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
Hattori, E.,2009	SNP: rs1416325	After the two-stage analysis, markers in this gene remained nominally significant (allelic P<0.05) with the same allele being consistently over-represented in both the first and the follow-up stages.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 28)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006465	signal peptide processing	biological process	IDA[16912035]	1
GO:0016021	integral component of membrane	cellular component	IEA	219

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030141	secretory granule	cellular component	ISS	14
GO:0043043	peptide biosynthetic process	biological process	IDA[8901832]	1
GO:0042089	cytokine biosynthetic process	biological process	ISS[8940009]	1
GO:0019058	viral life cycle	biological process	IEP[8940009]; ISS[8940009]	3
GO:0005615	extracellular space	cellular component	IBA; ISS[8940009]	85
GO:0008233	peptidase activity	molecular function	IDA[15606899]	4
GO:0006508	proteolysis	biological process	IEA	34
GO:0002001	renin secretion into blood stream	biological process	IEP[8901832]	1
GO:0005796	Golgi lumen	cellular component	TAS	9
GO:0048566	embryonic digestive tract development	biological process	IMP[18519639]; ISS[8940009]	4
GO:0009952	anterior/posterior pattern specification	biological process	IMP[18519639]	6
GO:0032455	nerve growth factor processing	biological process	TAS	2
GO:0016486	peptide hormone processing	biological process	IDA[8901832]	1
GO:0005794	Golgi apparatus	cellular component	ISS	60
GO:0042277	peptide binding	molecular function	ISS[8940009]	11
GO:0016485	protein processing	biological process	IDA[15606899]	5
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0004252	serine-type endopeptidase activity	molecular function	IDA[8901832]	9
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0007267	cell-cell signaling	biological process	TAS[8901832]	29
GO:0035108	limb morphogenesis	biological process	ISS[8940009]	3
GO:0007566	embryo implantation	biological process	ISS[8940009]	8
GO:0001822	kidney development	biological process	IMP[18519639]; ISS[8940009]	13
GO:0007507	heart development	biological process	ISS[8940009]	20
GO:0030323	respiratory tube development	biological process	ISS[8940009]	1
GO:0048706	embryonic skeletal system development	biological process	IMP[18519639]; ISS[8940009]	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PCSK5	PTPRM	YES	in vitro	8620001
PCSK5	ATN1	NO	yeast 2-hybrid	16713569
PCSK5	APPBP2	NO	yeast 2-hybrid	16189514
PCSK5	AMH	NO	in vitro;in vivo	8755541
PCSK5	REN	NO	in vitro	8901832
PCSK5	ITGA6	NO	in vitro	10657249

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1416325	chr9:76140576 - 76140576(1)	intron_variant	1(1/0/0)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs6560506	chr9:76142251 - 76142251(1)	intron_variant
rs4745507	chr9:76136716 - 76136716(1)	intron_variant
rs11144764	chr9:76140233 - 76140233(1)	intron_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)
9q21-32	chr9:65000000-114900000	1 (0/1/0)
Chr 9	chr9:0-138394717	3 (0/3/0)
9q21-22	chr9:65000000-99800000	1 (0/1/0)
9q21	chr9:65000000-87800000	3 (1/1/1)
9p21.1-q21.32	chr9:28000000-84300000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr9:75890644..76362339 View in gBrowse