Gene table of SLC13A5 : solute carrier family 13 member 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC13A5	OMIM link	Number of associated genes	genes
PS308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	ClinVar, OMIM	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

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Annotation of the gene SLC13A5

Associated genes in ENSEMBL

ENSG00000141485

Associated proteins - SwissProt Accession ID

Q86YT5

Associated PDB IDs

Cytogenetic Band

17p13.1

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
Sodium-coupled sulphate, di- and tri-carboxylate transporters	R-HSA-433137	10.66
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	R-HSA-425366	6.34
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
organic acid transmembrane transporter activity	GO:0005342	4.97
organic acid:sodium symporter activity	GO:0005343	6.48
sodium:dicarboxylate symporter activity	GO:0017153	7.54
sodium ion transmembrane transporter activity	GO:0015081	4.83
C4-dicarboxylate transmembrane transporter activity	GO:0015556	7.79
anion transmembrane transporter activity	GO:0008509	4.43
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
solute:sodium symporter activity	GO:0015370	5.83
transporter activity	GO:0005215	2.57
succinate transmembrane transporter activity	GO:0015141	9.05
metal ion transmembrane transporter activity	GO:0046873	3.71
tricarboxylic acid transmembrane transporter activity	GO:0015142	9.05
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
symporter activity	GO:0015293	4.78
dicarboxylic acid transmembrane transporter activity	GO:0005310	7.03
cation transmembrane transporter activity	GO:0008324	3.32
carboxylic acid transmembrane transporter activity	GO:0046943	4.99
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
organic anion transmembrane transporter activity	GO:0008514	5.31
citrate transmembrane transporter activity	GO:0015137	8.35
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
active ion transmembrane transporter activity	GO:0022853	5.06