ADHDgene Database

Gene Report

Basic Info

Approved Symbol	ABCA12
Previous Symbol	ICR2B
Symbol Alias	DKFZP434G232, LI2
Approved Name	ATP-binding cassette, sub-family A (ABC1), member 12
Previous Name	ichthyosis congenita II, lamellar ichthyosis B
Location	2q34
Position	chr2:215796266-216003151, -
External Links	HGNC: 14637 Entrez Gene: 26154 Ensembl: ENSG00000144452 UCSC: uc002vew.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
2q35	chr2:215300000-221500000	1 (1/0/0)

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005524	ATP binding	Molecular Function	NAS[12697999]	228
GO:0005829	cytosol	Cellular Component		447
GO:0005743	mitochondrial inner membrane	Cellular Component		44
GO:0016021	integral to membrane	Cellular Component	NAS[12697999]	845
GO:0006869	lipid transport	Biological Process	NAS[12915478]	12
GO:0019725	cellular homeostasis	Biological Process	NAS[12697999]	2
GO:0016887	ATPase activity	Molecular Function		14
GO:0031424	keratinization	Biological Process		2
GO:0035627	ceramide transport	Biological Process		1
GO:0043129	surfactant homeostasis	Biological Process		3
GO:0048286	lung alveolus development	Biological Process		5
GO:0055088	lipid homeostasis	Biological Process		4
GO:0061436	establishment of skin barrier	Biological Process		1

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 ABCA12 (count: 0)

Genes shared at least 2 KEGG pathways with ABCA12 (count: 0)

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Region: chr2:215796266..216003151 View in gBrowse