Gene table of SLC12A6 : solute carrier family 12 member 6

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC12A6	OMIM link	Number of associated genes	genes
218000	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	ClinVar, OMIM	link to OMIM	1	SLC12A6

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
SLC-mediated transmembrane transport	R-HSA-425407	4.95
Transport of inorganic cations/anions and amino acids/oligopeptides	R-HSA-425393	6.41
Cation-coupled Chloride cotransporters	R-HSA-426117	10.18
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
anion transmembrane transporter activity	GO:0008509	4.43
transmembrane transporter activity	GO:0022857	2.82
cation:chloride symporter activity	GO:0015377	7.66
inorganic anion transmembrane transporter activity	GO:0015103	4.87
metal ion transmembrane transporter activity	GO:0046873	3.71
potassium:chloride symporter activity	GO:0015379	8.13
potassium ion symporter activity	GO:0022820	8.13
chloride transmembrane transporter activity	GO:0015108	5.24
active transmembrane transporter activity	GO:0022804	3.85
solute:cation symporter activity	GO:0015294	5.15
anion:cation symporter activity	GO:0015296	6.15
secondary active transmembrane transporter activity	GO:0015291	4.29
active ion transmembrane transporter activity	GO:0022853	5.06
symporter activity	GO:0015293	4.78
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
ion transmembrane transporter activity	GO:0015075	3.04
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
protein binding	GO:0005515	0.46
rubidium ion transmembrane transporter activity	GO:0035827	9.74
potassium ion transmembrane transporter activity	GO:0015079	4.77