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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA 21836059
GO:0005886 Component Plasma membrane TAS
GO:0008517 Function Folic acid transmembrane transporter activity NAS 10542220
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Megaloblastic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Cone-rod dystrophy Cone-Rod Dystrophies rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209
View all (207 more)
Diabetes mellitus Diabetes Mellitus, Neonatal diabetes mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
17659067
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Thiamine Responsive Megaloblastic Anemia Syndrome thiamine-responsive megaloblastic anemia syndrome GenCC
Hypertension Hypertension GWAS
Associations from Text Mining
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