Gene Report

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Basic Info

Approved Symbol	SLC12A6
Previous Symbol	KCC3, ACCPN
Approved Name	solute carrier family 12 (potassium/chloride transporter), member 6
Previous Name	agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)
Location	15q13
Position	chr15:34229996-34338060, -1
External Links	HGNC: 10914 Entrez Gene: 9990 Ensembl: ENSG00000140199 UCSC: uc001zhw.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Meyer, J.,2005	Haplotype: 32416574(G/A) - IVS4+1008ins(T)/del(T)(), 32418760(G/A) - 32416574(G/A)(), 32418760(G/A) - 32416574(G/A) - IVS4+1008ins(T)/del(T) (), 32418760(G/A) - IVS4+1008ins(T)/del(T)() Other variant: SLC12A6_32416574(G/A), SLC12A6_32418760(G/A), SLC12A6_IVS4+1008ins(T)/del(T)	Our data strongly suggest that rare variants of SLC12A6 may represent risk factors for bipolar disorder	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006813	potassium ion transport	biological process	IEA	6
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0006811	ion transport	biological process	IDA[10187864]; TAS	18
GO:0016021	integral component of membrane	cellular component	NAS[10187864]	219
GO:0005887	integral component of plasma membrane	cellular component	IEA	158

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0071476	cellular hypotonic response	biological process	IMP[24393035]	3
GO:0071477	cellular hypotonic salinity response	biological process	IDA[16048901]	1
GO:0001525	angiogenesis	biological process	NAS[10187864]	20
GO:0015079	potassium ion transmembrane transporter activity	molecular function	IDA[24393035]	1
GO:0016323	basolateral plasma membrane	cellular component	ISS	21
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0019901	protein kinase binding	molecular function	IPI[24393035]	29
GO:0035826	rubidium ion transport	biological process	IMP[24393035]	1
GO:0035827	rubidium ion transmembrane transporter activity	molecular function	IMP[24393035]	1
GO:0015379	potassium:chloride symporter activity	molecular function	IDA[10187864]	1
GO:1902476	chloride transmembrane transport	biological process	IEA	16
GO:0010107	potassium ion import	biological process	IDA[24393035]	5

Gene related KEGG pathways (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
SLC12A6	OXSR1	NO	yeast 2-hybrid	12386165

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 3)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
SLC12A6_32418760(G/A)	point mutation	1 (1/0/0)
SLC12A6_32416574(G/A)	point mutation	1 (1/0/0)
SLC12A6_IVS4+1008ins(T)/del(T)	insertion/deletion	1 (1/0/0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 15	chr15:0-101991189	2 (0/2/0)

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

Gene relationship with SZ

Reference	Description	Result Category
16098236	No significant associations with SLC12A6 were found in our SZ samples.	Negative

Reference	ID in SZGene	Result Category
16098236	286	Negative

Gene relationship with MDD

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Region: chr15:34229996..34338060 View in gBrowse