BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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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	CCL2
Previous Symbol	SCYA2
Symbol Alias	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434
Approved Name	chemokine (C-C motif) ligand 2
Previous Name	small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)
Name Alias	monocyte chemotactic protein 1, homologous to mouse Sig-je, "monocyte chemoattractant protein-1", "monocyte chemotactic and activating factor", "monocyte secretory protein JE", "small inducible cytokine subfamily A (Cys-Cys), member 2"
Location	17q11.2-q21.1
Position	chr17:34255218-34257203, 1
External Links	HGNC: 10618 Entrez Gene: 6347 Ensembl: ENSG00000108691 UCSC: uc002hhy.3
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Altamura, A. C., 2010	Other variant: SCYA2_A-2518G	The present preliminary results, though limited by the relatively small sample, suggest a possible role of the SCYA2 in conferring susceptibility to BD.	Positive	Comment on Study
Roh, M. S., 2007	Other variant: MCP-1_A-2518G	We found no association between MCP-1 and BD in Koreans.	Negative	Comment on Study
Djurovic, S.,2010	SNP: rs11080256, rs11652429, rs11658512, rs4328493	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 98)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004672	protein kinase activity	molecular function	TAS[9973507]	13
GO:0006954	inflammatory response	biological process	IDA[21147091]	23
GO:0007155	cell adhesion	biological process	TAS[10198043]	42
GO:0045202	synapse	cellular component	IEA	29
GO:0005102	receptor binding	molecular function	TAS[10542238]	37

GO terms by database search (count: 93)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	biological process	TAS[10770925]	17
GO:0071354	cellular response to interleukin-6	biological process	IEA	1
GO:0071549	cellular response to dexamethasone stimulus	biological process	IEA	4
GO:0030968	endoplasmic reticulum unfolded protein response	biological process	TAS	10
GO:0006468	protein phosphorylation	biological process	TAS[9670957]	42
GO:0002693	positive regulation of cellular extravasation	biological process	IEA	1
GO:0031663	lipopolysaccharide-mediated signaling pathway	biological process	IDA[21147091]	6
GO:0048010	vascular endothelial growth factor receptor signaling pathway	biological process	IEA	12
GO:0071346	cellular response to interferon-gamma	biological process	IEP[9407497]; ISS	1
GO:0007179	transforming growth factor beta receptor signaling pathway	biological process	IEA	5
GO:0050806	positive regulation of synaptic transmission	biological process	IEA	4
GO:0043615	astrocyte cell migration	biological process	IDA[12271471]	1
GO:0007166	cell surface receptor signaling pathway	biological process	TAS[9548499]	23
GO:0030593	neutrophil chemotaxis	biological process	IEA	8
GO:0001938	positive regulation of endothelial cell proliferation	biological process	IEA	11
GO:0005576	extracellular region	cellular component	IDA[20041150]; TAS	97
GO:0008360	regulation of cell shape	biological process	IDA[10072545]	16
GO:0071407	cellular response to organic cyclic compound	biological process	IDA[21147091]	5
GO:0044299	C-fiber	cellular component	IEA	1
GO:0071318	cellular response to ATP	biological process	IEA	3
GO:0032760	positive regulation of tumor necrosis factor production	biological process	IEA	5
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[10542238]	64
GO:0014823	response to activity	biological process	IEA	11
GO:0002548	monocyte chemotaxis	biological process	IDA[12207323]	3
GO:0044344	cellular response to fibroblast growth factor stimulus	biological process	IEP[9407497]	2
GO:0090026	positive regulation of monocyte chemotaxis	biological process	IEA	2
GO:0010332	response to gamma radiation	biological process	IEA	5
GO:0001912	positive regulation of leukocyte mediated cytotoxicity	biological process	IEA	1
GO:0031727	CCR2 chemokine receptor binding	molecular function	ISS; TAS[18021937]	1
GO:0009612	response to mechanical stimulus	biological process	IEA	7
GO:0043204	perikaryon	cellular component	IEA	17
GO:0048471	perinuclear region of cytoplasm	cellular component	IEA	50
GO:0032967	positive regulation of collagen biosynthetic process	biological process	IEA	1
GO:0006935	chemotaxis	biological process	TAS[10623817]	7
GO:0009408	response to heat	biological process	IEA	12
GO:0032869	cellular response to insulin stimulus	biological process	IEA	12
GO:0009617	response to bacterium	biological process	NAS[16034137]	1
GO:0030425	dendrite	cellular component	IEA	65
GO:0031100	organ regeneration	biological process	IEA	5
GO:0007259	JAK-STAT cascade	biological process	TAS[9670957]	1
GO:0071222	cellular response to lipopolysaccharide	biological process	ISS	12
GO:0090265	positive regulation of immune complex clearance by monocytes and macrophages	biological process	IEA	1
GO:0019221	cytokine-mediated signaling pathway	biological process	IDA[12207323]	23
GO:0005615	extracellular space	cellular component	IEA	85
GO:0007165	signal transduction	biological process	NAS[10770925]	136
GO:0007568	aging	biological process	IEA	22
GO:0030139	endocytic vesicle	cellular component	IEA	8
GO:0002523	leukocyte migration involved in inflammatory response	biological process	IEA	2
GO:0036006	cellular response to macrophage colony-stimulating factor stimulus	biological process	IEA	1
GO:0045471	response to ethanol	biological process	IEA	24
GO:0005791	rough endoplasmic reticulum	cellular component	IEA	4
GO:0048246	macrophage chemotaxis	biological process	IDA[12207323]	1
GO:0036120	cellular response to platelet-derived growth factor stimulus	biological process	IEA	2
GO:0060135	maternal process involved in female pregnancy	biological process	IEA	3
GO:0001666	response to hypoxia	biological process	IEA	24
GO:0010574	regulation of vascular endothelial growth factor production	biological process	IEA	2
GO:0051770	positive regulation of nitric-oxide synthase biosynthetic process	biological process	ISS	4
GO:0043200	response to amino acid	biological process	IEA	6
GO:0001525	angiogenesis	biological process	TAS[18334747]	20
GO:0007010	cytoskeleton organization	biological process	IDA[10072545]	11
GO:0009611	response to wounding	biological process	IEA	9
GO:0070098	chemokine-mediated signaling pathway	biological process	IEA	3
GO:0006874	cellular calcium ion homeostasis	biological process	IEA	16
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0071356	cellular response to tumor necrosis factor	biological process	IEP[9407497]; ISS	7
GO:0032570	response to progesterone	biological process	IEA	5
GO:0043679	axon terminus	cellular component	IEA	8
GO:0060137	maternal process involved in parturition	biological process	IEA	2
GO:0008201	heparin binding	molecular function	IEA	8
GO:0035684	helper T cell extravasation	biological process	ISS	1
GO:0010759	positive regulation of macrophage chemotaxis	biological process	IEA	2
GO:2000502	negative regulation of natural killer cell chemotaxis	biological process	IDA[7545673]	1
GO:2000427	positive regulation of apoptotic cell clearance	biological process	ISS	1
GO:0071347	cellular response to interleukin-1	biological process	IEP[9407497]; ISS	3
GO:0006987	activation of signaling protein activity involved in unfolded protein response	biological process	TAS	8
GO:0000165	MAPK cascade	biological process	IMP[21147091]	10
GO:0043524	negative regulation of neuron apoptotic process	biological process	IDA[12753088]	26
GO:0048247	lymphocyte chemotaxis	biological process	IEA	1
GO:0035690	cellular response to drug	biological process	IEA	13
GO:0008009	chemokine activity	molecular function	IEA	2
GO:0033552	response to vitamin B3	biological process	IEA	1
GO:0050870	positive regulation of T cell activation	biological process	ISS	1
GO:0046677	response to antibiotic	biological process	IEA	4
GO:0006959	humoral immune response	biological process	TAS[9548499]	5
GO:0019079	viral genome replication	biological process	TAS[10985244]	3
GO:0019725	cellular homeostasis	biological process	TAS[18334747]	1
GO:0090280	positive regulation of calcium ion import	biological process	IDA[10925302]	3
GO:0009887	organ morphogenesis	biological process	TAS[9364936]	9
GO:0016525	negative regulation of angiogenesis	biological process	IEA	5
GO:0071403	cellular response to high density lipoprotein particle stimulus	biological process	IEA	1
GO:0034351	negative regulation of glial cell apoptotic process	biological process	IDA[12753088]	1
GO:0071300	cellular response to retinoic acid	biological process	IEA	5
GO:0043491	protein kinase B signaling	biological process	IMP[21147091]	4

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04060	Cytokine-cytokine receptor interaction	17

Gene related BioCarta pathways (count: 3)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
mspPathway	Msp/Ron Receptor Signaling Pathway	3
LDLpathway	Low-density lipoprotein (LDL) pathway during atherogenesis	2
Ccr5Pathway	Pertussis toxin-insensitive CCR5 Signaling in Macrophage	3

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CCL2	MMP1	NO	in vitro;in vivo	12149192 , 9558113
CCL2	CCBP2	NO	in vivo	9364936 , 9405404
CCL2	CCR5	NO	in vivo	10477718
CCL2	VCAN	NO	in vitro	11083865
CCL2	CCR1	NO	in vitro	8631787
CCL2	CCR10	NO	in vitro;in vivo	9364936 , 10706668
CCL2	DARC	NO	in vitro;in vivo	13679391 , 17416748
CCL2	CCR2	NO	in vitro;in vivo	10529171 , 9287323
CCL2	CCRL1	NO	in vitro	10734104
CCL2	MMP8	NO	in vitro;in vivo	12149192 , 9558113

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11658512	chr17:34180592 - 34180592(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs4328493	chr17:34182689 - 34182689(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs11652429	chr17:34180578 - 34180578(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs11080256	chr17:34181763 - 34181763(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
SCYA2_A-2518G	point mutation	promoter	1 (1/0/0)
MCP-1_A-2518G	point mutation		1 (0/1/0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17p12-q21.33	chr17:10800000-52100000	1 (0/1/0)
17q12	chr17:33500000-39800000	1 (0/0/1)
17q11-q23	chr17:25100000-64600000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
17q11-12	chr17:25100000-39800000	1 (0/0/1)
Chr 17	chr17:0-83257441	3 (0/3/0)

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: 2)

Reference	ID in SZGene	Result Category
15389752	116	Negative
15167690	116	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
19923858	No genotypic or allelic association for the A-2518G polymorphism of SCYA2 was found considering MDD cases and controls. The present preliminary results may represent a biological discriminative influence between mood disorder subtypes.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 3)

Reference	Description	Category in MDD	Link in MK4MDD
24424390	Thirty-four of the 47 monocyte inflammatory-related genes were significantly upregulated and 2 were significantly downregulated as compared to controls	Pos	CCL2
15296827	We found significant differences in genotype and allele frequencies.	Pos	CCL2

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Region: chr17:34255218..34257203 View in gBrowse