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Gene: SLC19A2 (solute carrier family 19 member 2) Homo sapiens
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Symbol: SLC19A2
Name: solute carrier family 19 member 2
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: high affinity thiamine transporter; reduced folate carrier protein (RFC) like; solute carrier family 19 (thiamine transporter), member 2; TC1; thiamine transporter 1; THMD1; THT1; thTr-1; THTR1; TRMA
Orthologs:
Mus musculus (house mouse) : Slc19a2 (solute carrier family 19 (thiamine transporter), member 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc19a2 (solute carrier family 19 member 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc19a2 (solute carrier family 19 member 2)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC19A2 (solute carrier family 19 member 2)
Canis lupus familiaris (dog) : SLC19A2 (solute carrier family 19 member 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc19a2 (solute carrier family 19 member 2)
Sus scrofa (pig) : SLC19A2 (solute carrier family 19 member 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381169,463,909 - 169,485,970 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371169,433,147 - 169,455,208 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361167,699,791 - 167,721,865 (-)NCBINCBI36hg18NCBI36
Build 341166,164,825 - 166,186,899NCBI
Celera1142,542,928 - 142,564,985 (-)NCBI
Cytogenetic Map1q24.2NCBI
HuRef1140,656,190 - 140,678,233 (-)NCBIHuRef
CHM1_11170,855,181 - 170,877,241 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC19A2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1318484
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.