Gene Report

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)

GO terms by PBA (count: 5)

GO terms by database search (count: 12)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 3)

Gene related regions (count: 1)

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

Overlap with SZ from cross-disorder studies (count: 1)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Gene relationship with MDD

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Region: chr15:34229996..34338060 View in gBrowse
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