ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	ABCG2
Symbol Alias	EST157481, MXR, BCRP, ABCP, CD338
Approved Name	ATP-binding cassette, sub-family G (WHITE), member 2
Location	4q22-q23
Position	chr4:89011416-89152474, -
External Links	HGNC: 74 Entrez Gene: 9429 Ensembl: ENSG00000118777 UCSC: uc003hrg.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_32	chr4:89231344-90528335 (NCBI Build 36.1 (hg18))	763128	4q22.1	Loss	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 17)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0008559	xenobiotic-transporting ATPase activity	Molecular Function	TAS[9861027]	1
GO:0006879	cellular iron ion homeostasis	Biological Process		12
GO:0015886	heme transport	Biological Process		3
GO:0015232	heme transporter activity	Molecular Function		3
GO:0005886	plasma membrane	Cellular Component		772
GO:0005524	ATP binding	Molecular Function		228
GO:0006855	drug transmembrane transport	Biological Process		1
GO:0006810	transport	Biological Process	TAS[9850061]	62
GO:0005515	protein binding	Molecular Function	IPI[18056989]	910
GO:0005215	transporter activity	Molecular Function	TAS[9861027]	41
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0046415	urate metabolic process	Biological Process	IMP[19503597]	4
GO:0055085	transmembrane transport	Biological Process		82
GO:0016021	integral to membrane	Cellular Component		845
GO:0042493	response to drug	Biological Process	TAS[9861027]	68
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	Molecular Function	TAS[9850061]	3
GO:0042803	protein homodimerization activity	Molecular Function	IDA[16870176]	113

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa02010	ABC transporters	7	The ATP-binding cassette (ABC) transporters form one of the ...... The ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of a wide variety of substrates such as ions, sugars, lipids, sterols, peptides, proteins, and drugs. The structure of a prokaryotic ABC transporter usually consists of three components; typically two integral membrane proteins each having six transmembrane segments, two peripheral proteins that bind and hydrolyze ATP, and a periplasmic (or lipoprotein) substrate-binding protein. Many of the genes for the three components form operons as in fact observed in many bacterial and archaeal genomes. On the other hand, in a typical eukaryotic ABC transporter, the membrane spanning protein and the ATP-binding protein are fused, forming a multi-domain protein with the membrane-spanning domain (MSD) and the nucleotide-binding domain (NBD). More...
hsa04976	Bile secretion	13	Bile is a vital secretion, essential for digestion and absor...... Bile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol and many waste product, bilirubin, drugs and toxic compounds. Bile secretion depends on the function of membrane transport systems in hepatocytes and cholangiocytes and on the structural and functional integrity of the biliary tree. The hepatocytes generate the so-called primary bile in their canaliculi. Cholangiocytes modify the canalicular bile by secretory and reabsorptive processes as bile passes through the bile ducts. The main solutes in bile are bile acids, which stimulate bile secretion osmotically, as well as facilitate the intestinal absorption of dietary lipids by their detergent properties. Bile acids are also important signalling molecules. Through the activation of nuclear receptors, they regulate their own synthesis and transport rates. More...

Genes shared at least 5 GO terms with ABCG2 (count: 13)

Gene Symbol	Pathway Count	Pathway List
ABCC6	8	plasma membrane; ATP binding; transport; transporter activity; transmembrane transport; integral to membrane; response to drug; ATPase activity, coupled to transmembrane movement of substances;
ABCB6	7	cellular iron ion homeostasis; heme transport; heme transporter activity; plasma membrane; ATP binding; transport; transmembrane transport;
ABCC1	7	plasma membrane; ATP binding; transport; transporter activity; transmembrane transport; response to drug; ATPase activity, coupled to transmembrane movement of substances;
ADCY4	6	plasma membrane; ATP binding; protein binding; small molecule metabolic process; transmembrane transport; integral to membrane;
ENPP1	6	plasma membrane; ATP binding; protein binding; small molecule metabolic process; integral to membrane; protein homodimerization activity;
SLC6A3	6	plasma membrane; transport; protein binding; transmembrane transport; integral to membrane; response to drug;
ATP6V0A2	5	cellular iron ion homeostasis; plasma membrane; protein binding; transmembrane transport; integral to membrane;
ABCG4	5	plasma membrane; ATP binding; transmembrane transport; integral to membrane; protein homodimerization activity;
APOA1	5	plasma membrane; protein binding; small molecule metabolic process; transmembrane transport; response to drug;
ATP10A	5	plasma membrane; ATP binding; protein binding; transmembrane transport; integral to membrane;
ATP2B3	5	plasma membrane; ATP binding; transport; transmembrane transport; integral to membrane;
SLC22A12	5	plasma membrane; urate metabolic process; transmembrane transport; integral to membrane; response to drug;
SLC37A4	5	transport; transporter activity; small molecule metabolic process; transmembrane transport; integral to membrane;

Genes shared at least 2 KEGG pathways with ABCG2 (count: 0)

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Region: chr4:89011416..89152474 View in gBrowse