Gene table of SLC12A5 : solute carrier family 12 member 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC12A5	OMIM link	Number of associated genes	genes
616685	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14	ClinVar, OMIM	link to OMIM	1	SLC12A5
PS308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	37	KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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

KEGG pathway	KEGG ID	KEGG IC
GABAergic synapse	hsa04727	6.24

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
potassium ion transmembrane transporter activity	GO:0015079	4.77