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
LDLpathway	Low-density lipoprotein (LDL) pathway during atherogenesis	2
Ccr5Pathway	Pertussis toxin-insensitive CCR5 Signaling in Macrophage	3
mspPathway	Msp/Ron Receptor Signaling Pathway	3

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

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

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