ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	FURIN
Previous Symbol	PCSK3, FUR, PACE
Symbol Alias	SPC1
Approved Name	furin (paired basic amino acid cleaving enzyme)
Previous Name	paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)
Location	15q26.1
Position	chr15:91411822-91426688, +
External Links	HGNC: 8568 Entrez Gene: 5045 Ensembl: ENSG00000140564 UCSC: uc002bpu.1
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Neale BM, 2010 (a)	1 SNPs of top 50 hits located within the gene	Trend

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1573643	Chr15:91420973(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs1894400	Chr15:91428955(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4932178	Chr15:91411656(Fwd)	upstream_gene_variant
rs6227	Chr15:91425232(Fwd)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs4932372	Chr15:91407275(Fwd)	upstream_gene_variant
rs2071410	Chr15:91420940(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs8032315	Chr15:91418297(Fwd)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 42)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 42)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0051044	positive regulation of membrane protein ectodomain proteolysis	Biological Process	IC[17010968]	3
GO:0052548	regulation of endopeptidase activity	Biological Process	IDA[14744861]	1
GO:0042277	peptide binding	Molecular Function	IDA[8940009]	7
GO:0043043	peptide biosynthetic process	Biological Process	IDA[8262946]	1
GO:0043687	post-translational protein modification	Biological Process		37
GO:0044267	cellular protein metabolic process	Biological Process		64
GO:0045121	membrane raft	Cellular Component	IDA[17010968]	22
GO:0046872	metal ion binding	Molecular Function		170
GO:0048011	nerve growth factor receptor signaling pathway	Biological Process		42
GO:0048406	nerve growth factor binding	Molecular Function	IDA[8615794]	3
GO:0017187	peptidyl-glutamic acid carboxylation	Biological Process		4
GO:0019067	viral assembly, maturation, egress, and release	Biological Process	IEP[8940009]	1
GO:0022617	extracellular matrix disassembly	Biological Process		14
GO:0030140	trans-Golgi network transport vesicle	Cellular Component	IDA[15078902]	7
GO:0009986	cell surface	Cellular Component	IDA[16537537]	70
GO:0016021	integral to membrane	Cellular Component		845
GO:0016485	protein processing	Biological Process	IDA[9242664]; IMP[15899807]	8
GO:0016486	peptide hormone processing	Biological Process	IDA[9242664]	3
GO:0032904	negative regulation of nerve growth factor production	Biological Process	IDA[10567353]	1
GO:0032911	negative regulation of transforming growth factor beta1 production	Biological Process	IMP[15899807]	2
GO:0032940	secretion by cell	Biological Process	IDA[8615794]	2
GO:0042176	regulation of protein catabolic process	Biological Process	IMP[15899807]	3
GO:0030198	extracellular matrix organization	Biological Process		31
GO:0032455	nerve growth factor processing	Biological Process		2
GO:0032804	negative regulation of low-density lipoprotein particle receptor catabolic process	Biological Process	IDA[16912035]	1
GO:0032902	nerve growth factor production	Biological Process	IDA[8615794]	1
GO:0005615	extracellular space	Cellular Component	IDA[10567353]	126
GO:0004867	serine-type endopeptidase inhibitor activity	Molecular Function	IDA[10567353]	10
GO:0005802	trans-Golgi network	Cellular Component	IDA[14744861]	28
GO:0005796	Golgi lumen	Cellular Component		12
GO:0002020	protease binding	Molecular Function	IPI[14744861]	13
GO:0000139	Golgi membrane	Cellular Component		95
GO:0004252	serine-type endopeptidase activity	Molecular Function	IDA[10567353]	29
GO:0004175	endopeptidase activity	Molecular Function	IDA[17010968]	4
GO:0008233	peptidase activity	Molecular Function	IDA[15082773]	15
GO:0007219	Notch signaling pathway	Biological Process		21
GO:0009966	regulation of signal transduction	Biological Process		4
GO:0008283	cell proliferation	Biological Process	IMP[15899807]	60
GO:0006465	signal peptide processing	Biological Process	IDA[16912035]	3
GO:0005886	plasma membrane	Cellular Component		772
GO:0007179	transforming growth factor beta receptor signaling pathway	Biological Process		14
GO:0006508	proteolysis	Biological Process		102

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with FURIN (count: 23)

Gene Symbol	Pathway Count	Pathway List
F7	8	post-translational protein modification; cellular protein metabolic process; peptidyl-glutamic acid carboxylation; extracellular space; Golgi lumen; serine-type endopeptidase activity; plasma membrane; proteolysis;
CTSG	8	extracellular matrix disassembly; cell surface; extracellular matrix organization; extracellular space; serine-type endopeptidase activity; peptidase activity; plasma membrane; proteolysis;
F10	7	post-translational protein modification; cellular protein metabolic process; peptidyl-glutamic acid carboxylation; Golgi lumen; serine-type endopeptidase activity; plasma membrane; proteolysis;
TPP1	6	peptide binding; metal ion binding; serine-type endopeptidase activity; endopeptidase activity; peptidase activity; proteolysis;
SORT1	6	nerve growth factor receptor signaling pathway; nerve growth factor binding; trans-Golgi network transport vesicle; cell surface; integral to membrane; plasma membrane;
MMP16	6	extracellular matrix disassembly; cell surface; extracellular matrix organization; Golgi lumen; plasma membrane; proteolysis;
CMA1	5	peptide binding; extracellular matrix disassembly; extracellular matrix organization; serine-type endopeptidase activity; proteolysis;
B4GALT4	5	post-translational protein modification; cellular protein metabolic process; metal ion binding; integral to membrane; Golgi membrane;
B4GALT6	5	post-translational protein modification; cellular protein metabolic process; metal ion binding; integral to membrane; Golgi membrane;
LMAN1	5	post-translational protein modification; cellular protein metabolic process; metal ion binding; integral to membrane; Golgi membrane;
MGAT1	5	post-translational protein modification; cellular protein metabolic process; metal ion binding; integral to membrane; Golgi membrane;
MGAT4B	5	post-translational protein modification; cellular protein metabolic process; metal ion binding; integral to membrane; Golgi membrane;
STS	5	post-translational protein modification; cellular protein metabolic process; metal ion binding; integral to membrane; plasma membrane;
MMP13	5	cellular protein metabolic process; extracellular matrix disassembly; extracellular matrix organization; extracellular space; proteolysis;
SPCS2	5	cellular protein metabolic process; integral to membrane; peptidase activity; signal peptide processing; proteolysis;
ADAM17	5	membrane raft; nerve growth factor receptor signaling pathway; cell surface; Notch signaling pathway; plasma membrane;
ENPP1	5	metal ion binding; cell surface; integral to membrane; extracellular space; plasma membrane;
UBC	5	nerve growth factor receptor signaling pathway; protease binding; Notch signaling pathway; plasma membrane; transforming growth factor beta receptor signaling pathway;
CTRB1	5	extracellular matrix disassembly; extracellular matrix organization; extracellular space; serine-type endopeptidase activity; proteolysis;
CTRB2	5	extracellular matrix disassembly; extracellular matrix organization; extracellular space; serine-type endopeptidase activity; proteolysis;
MMP8	5	extracellular matrix disassembly; extracellular matrix organization; extracellular space; serine-type endopeptidase activity; proteolysis;
PRSS8	5	integral to membrane; extracellular space; serine-type endopeptidase activity; plasma membrane; proteolysis;
TMPRSS5	5	integral to membrane; serine-type endopeptidase activity; peptidase activity; plasma membrane; proteolysis;

Genes shared at least 2 KEGG pathways with FURIN (count: 0)

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Region: chr15:91411822..91426688 View in gBrowse