Gene Report

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Basic Info

Approved Symbol	ACAN
Previous Symbol	MSK16, CSPG1, AGC1
Symbol Alias	CSPGCP
Approved Name	aggrecan
Previous Name	chondroitin sulfate proteoglycan 1, "aggrecan 1"
Name Alias	aggrecan proteoglycan
Location	15q26.1
Position	chr15:88803443-88875354, 1
External Links	HGNC: 319 Entrez Gene: 176 Ensembl: ENSG00000157766 UCSC: uc010upo.1
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
McAuley, E. Z., 2012	SNP: rs2280468	Nominally significant association (P < 0.05) was found with 1 SNP with BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031012	extracellular matrix	cellular component	IDA[20551380]	9
GO:0030246	carbohydrate binding	molecular function	IEA	6
GO:0007155	cell adhesion	biological process	IEA	42

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005201	extracellular matrix structural constituent	molecular function	TAS[1569188]	6
GO:0005796	Golgi lumen	cellular component	TAS	9
GO:0030198	extracellular matrix organization	biological process	TAS	26
GO:0009405	pathogenesis	biological process	TAS	13
GO:0042340	keratan sulfate catabolic process	biological process	TAS	1
GO:0001501	skeletal system development	biological process	NAS[1569188]	16
GO:0006508	proteolysis	biological process	NAS[1569188]	34
GO:0005578	proteinaceous extracellular matrix	cellular component	IEA	19
GO:0005515	protein binding	molecular function	IPI[17588949]	563
GO:0043202	lysosomal lumen	cellular component	TAS	4
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0042339	keratan sulfate metabolic process	biological process	TAS	2
GO:0018146	keratan sulfate biosynthetic process	biological process	TAS	2
GO:0005576	extracellular region	cellular component	TAS	97
GO:0005540	hyaluronic acid binding	molecular function	IEA	2
GO:0030203	glycosaminoglycan metabolic process	biological process	TAS	5
GO:0022617	extracellular matrix disassembly	biological process	TAS	10
GO:0005975	carbohydrate metabolic process	biological process	TAS	12
GO:0044281	small molecule metabolic process	biological process	TAS	117

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 17)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ACAN	LUM	NO	in vitro	15505028
ACAN	MMP1	NO	in vitro	8216228
ACAN	MMP14	NO	in vitro;in vivo	11854269 , 9688535
ACAN	FBLN1	NO	in vitro	10400671
ACAN	ADAMTS1	NO	in vitro	12054629
ACAN	MMP8	NO	in vitro	8216228 , 7998967
ACAN	MMP2	YES	in vitro	7998967
ACAN	TNR	YES	in vitro	11038354
ACAN	FBLN2	YES	in vitro	11038354
ACAN	ADAMTS5	NO	in vivo	11854269
ACAN	MMP19	NO	in vitro	10922468
ACAN	MMP3	YES	in vitro	7998967
ACAN	HAPLN1	NO	in vitro	12888576
ACAN	ADAMTS4	NO	in vitro	11854269 , 10751421 , 16188468 , 14701864
ACAN	CTSB	NO	in vitro	1326552
ACAN	TNFAIP6	NO	in vitro	9654129
ACAN	MMP20	NO	in vitro	10922468

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2280468	chr15:88838325 - 88838325(1)	intron_variant	1(1/0/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
15q26.1	chr15:88500000-93800000	1 (0/0/1)
15q25-26	chr15:78000000-101991189	1 (1/0/0)
15q26	chr15:88500000-101991189	1 (0/1/0)
Chr 15	chr15:0-101991189	2 (0/2/0)

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

Gene relationship with SZ

Reference	Description	Result Category
22693595	No significant association was reported in this study.	Negative

Gene relationship with MDD

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Region: chr15:88803443..88875354 View in gBrowse