Basic Information

Symbol
SLC19A2
RNA class
mRNA
Alias
Solute Carrier Family 19 Member 2 Thiamine Transporter 1 THTR1 ThT1 TRMA Solute Carrier Family 19 (Thiamine Transporter), Member 2 Thiamine-Responsive Megaloblastic Anaemia ThTr-1 TC1 Reduced Folate Carrier Protein (RFC) Like High Affinity Thiamine Transporter Thiamine Carrier 1 THMD1 ThTr1 THT1
Location (GRCh38)
1:169463909-169485944
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_006996.3
Sequence length
3612.0 nt
GC content
0.4097

Transcripts

ID Sequence Length GC content
NM_001319667.1 NCBI
AAACUGGGCGAUCAGGCAGCGACCCUAGAGGCGUCUGUAGGGUAAAGCU… 3052 nt 0.3961
NM_006996.3 NCBI
AGAGGCGUCUGUAGGGUAAAGCUGGGGGUUCUGUAGCCGGAGGCGGCGG… 3612 nt 0.4097
Summary

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 deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Forensic Context

A study in humans demonstrated that a 7-day overfeeding intervention in lean and obese men altered the transcriptome of abdominal subcutaneous adipose tissue, with 45 genes showing differential expression [Shea et al. DOI:10.3945/ajcn.2008.25970].