Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10560
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 19 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC19A2
Synonyms (NCBI Gene) Gene synonyms aliases
TC1, THMD1, THT1, THTR1, TRMA
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural de
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28937595 C>A,T Pathogenic Coding sequence variant, intron variant, missense variant
rs74315373 G>A Pathogenic Stop gained, coding sequence variant, intron variant
rs74315374 C>G,T Pathogenic Missense variant, stop gained, coding sequence variant, intron variant
rs74315375 C>T Pathogenic Stop gained, coding sequence variant
rs121908540 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023284 hsa-miR-122-5p Microarray 17612493
MIRT024357 hsa-miR-215-5p Microarray 19074876
MIRT026524 hsa-miR-192-5p Microarray 19074876
MIRT027662 hsa-miR-98-5p Microarray 19088304
MIRT029562 hsa-miR-26b-5p Sequencing 20371350
Transcription factors
Transcription factor Regulation Reference
SP1 Unknown 24525018
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21836059, 33961781
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 21836059
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603941 10938 ENSG00000117479
Protein
UniProt ID O60779
Protein name Thiamine transporter 1 (ThTr-1) (ThTr1) (Solute carrier family 19 member 2) (Thiamine carrier 1) (TC1)
Protein function High-affinity transporter for the intake of thiamine (PubMed:10391222, PubMed:10542220, PubMed:21836059, PubMed:33008889, PubMed:35512554, PubMed:35724964). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:3
PDB 8Z7Z , 8Z80
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01770 Folate_carrier 28 458 Reduced folate carrier Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung. {ECO:0000269|PubMed:10391222, ECO:0000269|PubMed:10542220}.
Sequence
Sequence length 497
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Vitamin digestion and absorption   Vitamin B1 (thiamin) metabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Thiamine Responsive Megaloblastic Anemia Syndrome Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness rs74315373, rs761957186, rs1571537544, rs199921604, rs28937595, rs763099442, rs74315374, rs1557894839, rs1571532822, rs1401027751, rs752104654, rs1571537879, rs74315375, rs1234256852, rs1553211899 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Chronic venous hypertension (PheCode 453) N/A N/A GWAS
Monogenic Diabetes monogenic diabetes N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alstrom Syndrome Associate 28432734
Anemia Associate 23454484, 24072090
Anemia Megaloblastic Associate 10978358, 17463047, 19643445, 28504500, 30833467, 31338833, 33571483, 33649974, 39467528
Anemia Megaloblastic Stimulate 9399900
Anemia Sideroblastic Associate 38360212
Cerebral Infarction Associate 31296181
Deafness Associate 11380424, 31338833, 31638924, 9399900
Deglutition Disorders Associate 31638924
Diabetes Mellitus Associate 11380424, 23454484, 24072090, 26839896, 29969779, 30833467, 31276222, 31338833, 33498041, 33571483, 39467528
Diabetes Mellitus Stimulate 9399900