Gene table of SLC19A3 : solute carrier family 19 member 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with SLC19A3OMIM linkNumber of associated genesgenes
PS249270THIAMINE-RESPONSIVE DYSFUNCTION SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 4SLC19A3, TPK1, SLC25A19, SLC19A2

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Annotation of the gene SLC19A3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Vitamin digestion and absorptionhsa049778.24
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Vitamin B1 (thiamin) metabolismR-HSA-19681910.98
Metabolism of vitamins and cofactorsR-HSA-1968546.54
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.54
MetabolismR-HSA-14307282.34
Associated GO terms for Molecular function
GO termGO IDGO IC
substrate-specific transmembrane transporter activityGO:00228912.9
sulfur compound transmembrane transporter activityGO:19016826.44
uptake transmembrane transporter activityGO:00155638.35
vitamin transporter activityGO:00511836.56
transporter activityGO:00052152.57
azole transmembrane transporter activityGO:19014747.95
azole transporter activityGO:00451187.95
drug transmembrane transporter activityGO:00152386.85
thiamine transmembrane transporter activityGO:00152348.64
vitamin transmembrane transporter activityGO:00904827.79
transmembrane transporter activityGO:00228572.82
substrate-specific transporter activityGO:00228922.72
drug transporter activityGO:00904846.69
thiamine uptake transmembrane transporter activityGO:00154038.64