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SLC19A2 solute carrier family 19 (thiamine transporter), member 2 [ Homo sapiens (human) ]

Gene ID: 10560, updated on 26-Jun-2015
Official Symbol
SLC19A2provided by HGNC
Official Full Name
solute carrier family 19 (thiamine transporter), member 2provided by HGNC
Primary source
HGNC:HGNC:10938
See related
Ensembl:ENSG00000117479; HPRD:04897; MIM:603941; Vega:OTTHUMG00000035452
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TC1; THT1; TRMA; THMD1; THTR1
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. [provided by RefSeq, Jul 2008]
Orthologs
See SLC19A2 in Epigenomics, MapViewer
Location:
1q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (169463909..169486079, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169433147..169455208, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371605 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181 Neighboring gene coagulation factor V (proaccelerin, labile factor) Neighboring gene selectin P (granule membrane protein 140kDa, antigen CD62)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog
Genetics of venous thrombosis: insights from a new genome wide association study.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
folic acid transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiamine transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
thiamine uptake transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
thiamine uptake transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
folic acid transport NAS
Non-traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
thiamine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
thiamine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
thiamine transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
thiamine transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
thiamine transport NAS
Non-traceable Author Statement
more info
PubMed 
thiamine-containing compound metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
thiamine transporter 1
Names
thiamine transporter 1
high affinity thiamine transporter
reduced folate carrier protein (RFC) like
solute carrier family 19 member 2
thTr-1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008255.1 RefSeqGene

    Range
    5001..27062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006996.2NP_008927.1  thiamine transporter 1

    See identical proteins and their annotated locations for NP_008927.1

    Status: REVIEWED

    Source sequence(s)
    AF153330, AJ237724, BU608154
    Consensus CDS
    CCDS1280.1
    UniProtKB/TrEMBL
    A0A024R928
    UniProtKB/Swiss-Prot
    O60779
    Related
    ENSP00000236137, OTTHUMP00000033497, ENST00000236137, OTTHUMT00000086106
    Conserved Domains (1) summary
    pfam01770
    Location:28458
    Folate_carrier; Reduced folate carrier

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    169463909..169486079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509076.1XP_011507378.1  

    Conserved Domains (1) summary
    pfam01770
    Location:2394
    Folate_carrier; Reduced folate carrier
  2. XM_011509077.1XP_011507379.1  

    See identical proteins and their annotated locations for XP_011507379.1

    Related
    ENSP00000356778, OTTHUMP00000033498, ENST00000367804, OTTHUMT00000086107
    Conserved Domains (1) summary
    cl21472
    Location:59257
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    170855181..170877241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)