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	ABCG1
Symbol Alias	ABC8
Approved Name	ATP-binding cassette, sub-family G (WHITE), member 1
Name Alias	ATP-binding cassette transporter 8
Location	21q22.3
Position	chr21:42199689-42297244, 1
External Links	HGNC: 73 Entrez Gene: 9619 Ensembl: ENSG00000160179 UCSC: uc002zaq.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kirov, G.,2001	SNP: rs1044317 Other variant: ABCG1_1248+14insC, ABCG1_1249-64G>T, ABCG1_274+11C>T, ABCG1_-533A>G, ABCG1_576+139A>G, ABCG1_723-20C>T, ABCG1_-768G>A, ABCG1_A2424G, ABCG1_I6 61VNTR, ABCG1_UTR_poly(T), ABCG1_D21S1225	No alleles or haplotypes were significantly preferentially transmitted from parents to affected offspring.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 49)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[16780588]; TAS	360
GO:0005887	integral component of plasma membrane	cellular component	IC[11500512]	158

GO terms by database search (count: 47)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0034374	low-density lipoprotein particle remodeling	biological process	ISS[16556852]	5
GO:0033344	cholesterol efflux	biological process	IDA[15994327]	5
GO:0010872	regulation of cholesterol esterification	biological process	ISS[16556852]	1
GO:0055091	phospholipid homeostasis	biological process	IMP[16702602]	3
GO:0000139	Golgi membrane	cellular component	IEA	36
GO:0034437	glycoprotein transporter activity	molecular function	IDA[17293612]	1
GO:0019534	toxin transporter activity	molecular function	IDA[17408620]	2
GO:0043691	reverse cholesterol transport	biological process	ISS	2
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0010875	positive regulation of cholesterol efflux	biological process	IEA	4
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0005794	Golgi apparatus	cellular component	IDA	60
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0010887	negative regulation of cholesterol storage	biological process	TAS[18490524]	1
GO:0042632	cholesterol homeostasis	biological process	IDA[15994327]	8
GO:0005543	phospholipid binding	molecular function	IC[16702602]	8
GO:0006355	regulation of transcription, DNA-templated	biological process	ISS	62
GO:0043531	ADP binding	molecular function	IDA[16702602]	4
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0034375	high-density lipoprotein particle remodeling	biological process	ISS[16556852]	2
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52
GO:0042803	protein homodimerization activity	molecular function	IDA[16870176]	71
GO:0010033	response to organic substance	biological process	IDA[11500512]	3
GO:0033993	response to lipid	biological process	IDA[16556852]	1
GO:0017127	cholesterol transporter activity	molecular function	IDA[15994327]; TAS	4
GO:0046982	protein heterodimerization activity	molecular function	IPI[16870176]	42
GO:0008203	cholesterol metabolic process	biological process	IDA[15994327]	5
GO:0033700	phospholipid efflux	biological process	IMP[16702602]	3
GO:0009720	detection of hormone stimulus	biological process	NAS[11500512]	1
GO:0034041	sterol-transporting ATPase activity	molecular function	IDA[17408620]	1
GO:0005515	protein binding	molecular function	IPI[16870176]	563
GO:0005524	ATP binding	molecular function	IDA[16702602]	118
GO:1901998	toxin transport	biological process	IDA[17408620]	4
GO:0042157	lipoprotein metabolic process	biological process	TAS	3
GO:0005739	mitochondrion	cellular component	IDA[22042635]	75
GO:0005548	phospholipid transporter activity	molecular function	IDA[16702602]	2
GO:0032367	intracellular cholesterol transport	biological process	IMP[15994327]	1
GO:0045542	positive regulation of cholesterol biosynthetic process	biological process	ISS	1
GO:0042987	amyloid precursor protein catabolic process	biological process	IDA[17293612]	1
GO:0055037	recycling endosome	cellular component	ISS[16556852]	14
GO:0034436	glycoprotein transport	biological process	IDA[17293612]	1
GO:0055099	response to high density lipoprotein particle	biological process	IEA	1
GO:0009897	external side of plasma membrane	cellular component	IDA[16556852]	21
GO:0015485	cholesterol binding	molecular function	IC[15994327]	5
GO:0046983	protein dimerization activity	molecular function	NAS[11500512]	19
GO:0010745	negative regulation of macrophage derived foam cell differentiation	biological process	TAS[18490524]	1
GO:0005768	endosome	cellular component	ISS	27

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa02010	ABC transporters	5

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ABCG1	ABCG4	NO	in vitro;in vivo	15240127

Related other genetic factors

Gene related SNPs (count: 14)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9975740	chr21:42200375 - 42200375(1)	intron_variant; non_coding_transcript_variant	1(0/0/1)
rs915841	chr21:42259328 - 42259328(1)	intron_variant; non_coding_transcript_variant; synonymous_variant	1(1/0/0)
rs4148087	chr21:42202157 - 42202157(1)	intron_variant; non_coding_transcript_variant	1(0/0/1)
rs9976024	chr21:42221547 - 42221547(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs1044317	chr21:42296791 - 42296791(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 9)

rs_ID	Location	Functional Annotation
rs3787986	chr21:42258698 - 42258698(1)	intron_variant; non_coding_transcript_variant
rs3788010	chr21:42295912 - 42295912(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs915842	chr21:42259403 - 42259403(1)	intron_variant; non_coding_transcript_variant; synonymous_variant
rs1541290	chr21:42298373 - 42298373(1)	downstream_gene_variant
rs7281345	chr21:42254872 - 42254872(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs7281684	chr21:42256476 - 42256476(1)	intron_variant; missense_variant; non_coding_transcript_variant
rs4148120	chr21:42253367 - 42253367(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs915843	chr21:42259444 - 42259444(1)	intron_variant; missense_variant; non_coding_transcript_variant
rs17114590	chr21:42261846 - 42261846(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 11)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
ABCG1_I6 61VNTR	VNTR	1 (0/1/0)
ABCG1_UTR_poly(T)	VNTR	1 (0/1/0)
ABCG1_1248+14insC	insertion/deletion	1 (0/1/0)
ABCG1_274+11C>T	point mutation	1 (0/1/0)
ABCG1_1249-64G>T	point mutation	1 (0/1/0)
ABCG1_576+139A>G	point mutation	1 (0/1/0)
ABCG1_-533A>G	point mutation	1 (0/1/0)
ABCG1_-768G>A	point mutation	1 (0/1/0)
ABCG1_723-20C>T	point mutation	1 (0/1/0)
ABCG1_D21S1225	microsatellite	1 (1/0/0)
ABCG1_A2424G	point mutation	1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 21	chr21:0-46709983	1 (0/1/0)
21q22	chr21:30200000-46709983	2 (0/0/2)
21q21.3-qter	chr21:25500000-46709983	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr21:42199689..42297244 View in gBrowse