Gene table of SLC22A5 : solute carrier family 22 member 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC22A5	OMIM link	Number of associated genes	genes
212140	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SLC22A5
PS266600	INFLAMMATORY BOWEL DISEASE	ClinVar	link to OMIM	10	ATG16L1, IL10RB, IRGM, IL10RA, NOD2, IRF5, IL23R, ABCB1, SLC22A5, IL6

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Annotation of the gene SLC22A5

Associated genes in ENSEMBL

ENSG00000197375

Associated proteins - SwissProt Accession ID

O76082

Associated PDB IDs

Cytogenetic Band

5q31.1

Tandem repeats annotation

The gene is in the tandem Group 251, together with the genes:

SLC22A4

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Choline metabolism in cancer	hsa05231	6.09

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
SLC-mediated transmembrane transport	R-HSA-425407	4.95
Organic cation/anion/zwitterion transport	R-HSA-549132	9.18
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
Organic cation transport	R-HSA-549127	9.81

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ion antiporter activity	GO:0099516	5.75
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
quaternary ammonium group transmembrane transporter activity	GO:0015651	7.66
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation:cation antiporter activity	GO:0015491	6.48
drug transmembrane transporter activity	GO:0015238	6.85
organic cation transmembrane transporter activity	GO:0015101	7.34
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
active transmembrane transporter activity	GO:0022804	3.85
antiporter activity	GO:0015297	5.33
secondary active transmembrane transporter activity	GO:0015291	4.29
symporter activity	GO:0015293	4.78
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
solute:cation antiporter activity	GO:0015298	6.24
small molecule binding	GO:0036094	1.89
PDZ domain binding	GO:0030165	5.22
protein domain specific binding	GO:0019904	3.32
amino-acid betaine transmembrane transporter activity	GO:0015199	8.64
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
carnitine transmembrane transporter activity	GO:0015226	8.64
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
modified amino acid transmembrane transporter activity	GO:0072349	6.97
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
adenyl ribonucleotide binding	GO:0032559	2.41
ATP binding	GO:0005524	2.43
protein binding	GO:0005515	0.46
drug transporter activity	GO:0090484	6.69
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19