Gene table of SLC12A3 : solute carrier family 12 member 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC12A3	OMIM link	Number of associated genes	genes
263800	GITELMAN SYNDROME	OMIM, HUMSAVAR	link to OMIM	1	SLC12A3

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
substrate-specific transmembrane transporter activity	GO:0022891	2.9
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
inorganic anion transmembrane transporter activity	GO:0015103	4.87
symporter activity	GO:0015293	4.78
transporter activity	GO:0005215	2.57
anion transmembrane transporter activity	GO:0008509	4.43
cation transmembrane transporter activity	GO:0008324	3.32
enzyme binding	GO:0019899	2.27
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
substrate-specific transporter activity	GO:0022892	2.72
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
sodium:chloride symporter activity	GO:0015378	9.74
active ion transmembrane transporter activity	GO:0022853	5.06
chloride transmembrane transporter activity	GO:0015108	5.24
active transmembrane transporter activity	GO:0022804	3.85
cation:chloride symporter activity	GO:0015377	7.66