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Slc19a3 Gene Detail
Summary
  • Symbol
    Slc19a3
  • Name
    solute carrier family 19, member 3
  • Synonyms
    A230084E24Rik, ThTr2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1931307
    NCBI Gene: 80721
  • Gene Overview
    MyGene.info: SLC19A3
Location & Maps
more
  • Sequence Map
    Chr1:83012523-83038448 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25926 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SLC19A3, solute carrier family 19 member 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC19A3, solute carrier family 19 member 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BBGD, THMD2, THTR2
  • Links
    NCBI Gene ID: 80704
    neXtProt AC: NX_Q9BZV2

  • Chr Location
    2q37; chr2:227685210-227718029 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SLC19A3 associations

Human Disease Mouse Models
       Thiamine Metabolism Dysfunction Syndrome 2 (biotin- or Thiamine-Responsive Type); THMD2   OMIM: 607483
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Slc19a3
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit premature death within a year of age, impaired thiamin uptake, lethargy, cachexia, injured liver parenchyma, hepatic necrosis, liver and kidney inflammmation, and nephrosclerosis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022622 VEGA Gene Model | MGI Sequence Detail 25926 C57BL/6J ±  kb
transcript OTTMUST00000123318 VEGA | MGI Sequence Detail 1550 Not Applicable  
polypeptide OTTMUSP00000067380 VEGA | MGI Sequence Detail 488 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    206 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000014971 thiamine transporter 2
  • InterPro Domains
    IPR020846 Major facilitator superfamily domain
    IPR002666 Reduced folate carrier
    IPR028337 Thiamine transporter 2
Molecular
Reagents
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  • All nucleic 9
    cDNA 7
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
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MGI:2138321
References
more
  • Summaries
    All 30
    Developmental Gene Expression 1
    Gene Ontology 6
    Phenotypes 9
  • Earliest
    J:67224 Eudy JD, et al., Identification and characterization of the human and mouse SLC19A3 gene: A novel member of the reduced folate family of micronutrient transporter genes. Mol Genet Metab. 2000 Dec;71(4):581-90
  • Latest
    J:183439 Subramanian VS, et al., Relative contribution of THTR-1 and THTR-2 in thiamin uptake by pancreatic acinar cells: studies utilizing Slc19a2 and Slc19a3 knockout mouse models. Am J Physiol Gastrointest Liver Physiol. 2012 Mar;302(5):G572-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory