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MGP004286

Record overview

MGPD IDMGP004286
Gene ID10560
SpeciesHomo sapiens (Human)
Gene Namesolute carrier family 19 (thiamine transporter), member 2
Gene Symbol SLC19A2
SynonymsTC1; THT1; TRMA; THMD1; THTR1;
Alternate namesthiamine transporter 1; high affinity thiamine transporter; reduced folate carrier protein (RFC) like; solute carrier family 19 member 2; thTr-1;
Chromosome1
Map Location1q23.3
SummaryThis 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 deafness. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for SLC19A2

Proteins

thiamine transporter 1
Refseq ID:NP_008927
Protein GI:27734719
UniProt ID:O60779
mRNA ID:NM_006996
Length:497
RefSeq Status:
MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGPDKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPV
VLLQGLSLIVTWFMLLYAQGLLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSYCRSATLVGFTVGSVLGQILVSVAGWSLFSLNVISLTCVSV
AFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTDTPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSV
WWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWSTWGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIY
MLLITIATFQIAANLSMERYALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMKKCRKLEDPQSSSQVTTS
 
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