ADHDgene Database

Gene Report

Basic Info

Approved Symbol	SLC12A6
Previous Symbol	KCC3, ACCPN
Approved Name	solute carrier family 12 (potassium/chloride transporters), member 6
Previous Name	agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)
Location	15q13
Position	chr15:34522197-34630265, -
External Links	HGNC: 10914 Entrez Gene: 9990 Ensembl: ENSG00000140199 UCSC: uc001zhw.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]_44	chr15:30688712-32587887 (NCBI Build 36.1 (hg18))	1871368	15q13.3-15q14	Gain	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0055085	transmembrane transport	Biological Process		82
GO:0071477	cellular hypotonic salinity response	Biological Process	IDA[16048901]	1
GO:0016021	integral to membrane	Cellular Component	NAS[10187864]	845
GO:0016323	basolateral plasma membrane	Cellular Component		29
GO:0006813	potassium ion transport	Biological Process		11
GO:0015379	potassium:chloride symporter activity	Molecular Function	IDA[16048901]	1
GO:0005886	plasma membrane	Cellular Component		772
GO:0006811	ion transport	Biological Process	IDA[10187864]	25
GO:0001525	angiogenesis	Biological Process	NAS[10187864]	35

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with SLC12A6 (count: 1)

Gene Symbol	Pathway Count	Pathway List
SLC4A2	5	transmembrane transport; integral to membrane; basolateral plasma membrane; plasma membrane; ion transport;

Genes shared at least 2 KEGG pathways with SLC12A6 (count: 0)

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Region: chr15:34522197..34630265 View in gBrowse