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	MMP9
Previous Symbol	CLG4B
Approved Name	matrix metallopeptidase 9
Previous Name	matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)
Location	20q13.12
Position	chr20:46008908-46016561, 1
External Links	HGNC: 7176 Entrez Gene: 4318 Ensembl: ENSG00000100985 UCSC: uc002xqz.3
No. of Studies	1 (Positive: 1; Negative: 0; 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
Rybakowski, J. K.,2009	SNP: rs3918242	The results may provide the first evidence for an involvement of the MMP-9 gene in the pathogenesis of bipolar mood disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 33)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004222	metalloendopeptidase activity	molecular function	IDA[16192646]	8
GO:0008237	metallopeptidase activity	molecular function	IDA[24236012]	8
GO:0007411	axon guidance	biological process	TAS	60

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[16512877]	563
GO:0005576	extracellular region	cellular component	TAS	97
GO:0006508	proteolysis	biological process	IDA[15863497]	34
GO:0004175	endopeptidase activity	molecular function	IDA[19022250]	8
GO:0008270	zinc ion binding	molecular function	TAS[2251898]	77
GO:1900122	positive regulation of receptor binding	biological process	IDA[24164424]	2
GO:0043066	negative regulation of apoptotic process	biological process	IMP[22984561]	46
GO:0050900	leukocyte migration	biological process	IEA	9
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	biological process	IMP[22984561]	2
GO:0035987	endodermal cell differentiation	biological process	IEP[23154389]	3
GO:0030225	macrophage differentiation	biological process	TAS[2251898]	1
GO:0005615	extracellular space	cellular component	IDA[2251898]	85
GO:0001934	positive regulation of protein phosphorylation	biological process	IMP[22984561]	15
GO:0048013	ephrin receptor signaling pathway	biological process	TAS	11
GO:0005518	collagen binding	molecular function	TAS[2251898]	4
GO:0001501	skeletal system development	biological process	IEA	16
GO:0001503	ossification	biological process	IEA	5
GO:0030574	collagen catabolic process	biological process	TAS	4
GO:0043388	positive regulation of DNA binding	biological process	IDA[22984561]	4
GO:0030198	extracellular matrix organization	biological process	TAS	26
GO:0007566	embryo implantation	biological process	IEA	8
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	biological process	IMP[22984561]	2
GO:2001258	negative regulation of cation channel activity	biological process	IDA[24164424]	2
GO:2001268	negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	biological process	IMP[22984561]	1
GO:0005578	proteinaceous extracellular matrix	cellular component	IEA	19
GO:0051549	positive regulation of keratinocyte migration	biological process	IMP[17704059]	1
GO:0042802	identical protein binding	molecular function	IPI[23601700]	44
GO:0090200	positive regulation of release of cytochrome c from mitochondria	biological process	IMP[22984561]	3
GO:0022617	extracellular matrix disassembly	biological process	TAS	10

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05219	Bladder cancer	3

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04670	Leukocyte transendothelial migration	13

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
reckPathway	Inhibition of Matrix Metalloproteinases	1

Gene related interactors from protein-protein interactions data in HPRD (count: 30)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
MMP9	COL4A6	NO	in vivo	9878537
MMP9	COL1A1	NO	in vivo	9878537
MMP9	TIMP3	NO	in vitro;in vivo	11827795
MMP9	COL4A1	NO	in vivo	9878537
MMP9	LCN2	NO	in vitro	10339412 , 1281792
MMP9	TFPI	NO	in vitro	10859319
MMP9	EPHB2	NO	in vivo	18713744
MMP9	BTC	NO	in vitro;in vivo	10706134
MMP9	MMP10	NO	in vitro	9578462
MMP9	PRSS2	NO	in vitro	9578462 , 9261109
MMP9	COL1A2	NO	in vivo	9878537
MMP9	CXCL1	NO	in vitro	11023497
MMP9	COL4A4	NO	in vivo	9878537
MMP9	HAPLN1	NO	in vitro	7694569
MMP9	COL4A5	NO	in vivo	9878537
MMP9	PLG	NO	in vitro	9360944
MMP9	PZP	NO	in vitro	9344465
MMP9	THBS2	NO	in vitro;yeast 2-hybrid	10900205
MMP9	CD44	NO	in vivo	10652271 , 17912438
MMP9	COL4A2	NO	in vivo	9878537
MMP9	COL4A3	NO	in vivo	9878537
MMP9	KISS1	NO	in vitro;in vivo	12879005
MMP9	RECK	NO	in vitro	9789069
MMP9	FN1	NO	in vitro	11134254
MMP9	IL8	NO	in vitro	11023497
MMP9	AREG	NO	in vivo	10389762
MMP9	THBS1	NO	in vitro;in vivo;yeast 2-hybrid	10900205 , 11606713
MMP9	MMP26	NO	in vivo	12586837
MMP9	MMP7	NO	in vivo	7896811
MMP9	CXCL5	NO	in vitro;in vivo	12950257 , 10095777

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)
rs3918242	chr20:46007337 - 46007337(1)	upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 20	chr20:0-64444167	4 (0/3/1)
20p11-q13	chr20:17900000-64444167	1 (1/0/0)
20q13	chr20:43100000-64444167	2 (0/2/0)

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
19264454	769	Positive

Gene relationship with MDD

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Region: chr20:46008908..46016561 View in gBrowse