Gene table of SLC19A2 : solute carrier family 19 member 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC19A2	OMIM link	Number of associated genes	genes
PS249270	THIAMINE-RESPONSIVE DYSFUNCTION SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	SLC19A3, TPK1, SLC25A19, SLC19A2

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
Vitamin digestion and absorption	hsa04977	8.24

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Vitamin B1 (thiamin) metabolism	R-HSA-196819	10.98
Metabolism of vitamins and cofactors	R-HSA-196854	6.54
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
substrate-specific transmembrane transporter activity	GO:0022891	2.9
cofactor transporter activity	GO:0051184	6.69
sulfur compound transmembrane transporter activity	GO:1901682	6.44
uptake transmembrane transporter activity	GO:0015563	8.35
vitamin transporter activity	GO:0051183	6.56
transporter activity	GO:0005215	2.57
azole transmembrane transporter activity	GO:1901474	7.95
azole transporter activity	GO:0045118	7.95
drug transmembrane transporter activity	GO:0015238	6.85
thiamine transmembrane transporter activity	GO:0015234	8.64
vitamin transmembrane transporter activity	GO:0090482	7.79
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
drug transporter activity	GO:0090484	6.69
thiamine uptake transmembrane transporter activity	GO:0015403	8.64
folic acid transporter activity	GO:0008517	7.79