ADHDgene Database

Gene Report

Basic Info

Approved Symbol	ABCC6
Previous Symbol	ARA, PXE
Symbol Alias	MRP6, EST349056, MLP1, URG7
Approved Name	ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Previous Name	pseudoxanthoma elasticum
Location	16p13.11
Position	chr16:16243422-16317328, -
External Links	HGNC: 57 Entrez Gene: 368 Ensembl: ENSG00000091262 UCSC: uc002den.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 9)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_20	chr16:15408600-16190572 (NCBI Build 36.1 (hg18))	788434	16p13.11	Gain
CNV_Williams[2010]_53	chr16:15387380-16197033 (NCBI Build 36.1 (hg18))	809654	16p13.11	Gain	De novo
CNV_Williams[2010]_23	chr16:15387380-16190572 (NCBI Build 36.1 (hg18))	797807	16p13.11	Gain
CNV_Williams[2010]_21	chr16:15156431-18174650 (NCBI Build 36.1 (hg18))	3006995	16p13.11-16p12.3	Gain
CNV_Williams[2010]_42	chr16:15387380-16197033 (NCBI Build 36.1 (hg18))	809654	16p13.11	Gain
CNV_Jarick[2012]_33	chr16:15387380-16197033 (NCBI36 / hg18)	809654	16p13.11	del
CNV_Jarick[2012]_32	chr16:15034391-16197033 (NCBI36 / hg18)	1162643	16p13.11	dup
CNV_Jarick[2012]_31	chr16:15032942-16197033 (NCBI36 / hg18)	1164092	16p13.11	del
CNV_Williams[2010]_4	chr16:15398985-18174650 (NCBI Build 36.1 (hg18))	2775666	16p13.11-16p12.3	Gain	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
16p13.11	chr16:14800000-16800000	1 (1/0/0)

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005215	transporter activity	Molecular Function	TAS[8912525]	41
GO:0006810	transport	Biological Process	TAS[8912525]	62
GO:0007601	visual perception	Biological Process		30
GO:0005524	ATP binding	Molecular Function		228
GO:0005886	plasma membrane	Cellular Component		772
GO:0055085	transmembrane transport	Biological Process		82
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	Molecular Function		3
GO:0016324	apical plasma membrane	Cellular Component		51
GO:0016021	integral to membrane	Cellular Component		845
GO:0042493	response to drug	Biological Process	TAS[8912525]	68
GO:0016328	lateral plasma membrane	Cellular Component		8

Gene related KEGG pathways (count: 1)

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...

Genes shared at least 5 GO terms with ABCC6 (count: 6)

Gene Symbol	Pathway Count	Pathway List
ABCG2	8	transporter activity; transport; ATP binding; plasma membrane; transmembrane transport; ATPase activity, coupled to transmembrane movement of substances; integral to membrane; response to drug;
ABCC1	7	transporter activity; transport; ATP binding; plasma membrane; transmembrane transport; ATPase activity, coupled to transmembrane movement of substances; response to drug;
ATP2B3	5	transport; ATP binding; plasma membrane; transmembrane transport; integral to membrane;
SLC6A3	5	transport; plasma membrane; transmembrane transport; integral to membrane; response to drug;
SLC7A5	5	transport; plasma membrane; transmembrane transport; apical plasma membrane; integral to membrane;
SLC22A12	5	plasma membrane; transmembrane transport; apical plasma membrane; integral to membrane; response to drug;

Genes shared at least 2 KEGG pathways with ABCC6 (count: 0)

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Region: chr16:16243422..16317328 View in gBrowse