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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
  • Alliance
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
  • Genetic Map
    Chromosome 1, 42.65 cM
  • Mapping Data
    3 experiments
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: HomoloGene, HGNC
  • Synonyms
    BBGD, THMD2, THTR2
  • Links
    NCBI Gene ID: 80704
    neXtProt AC: NX_Q9BZV2
    UniProt: Q9BZV2

  • Chr Location
    2q36.3; chr2:227685210-227718030 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human SLC19A3 associations

Human Disease Mouse Models
      
IDs
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
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000022622 VEGA Gene Model | MGI Sequence Detail 25926 C57BL/6J ±  kb
    transcript OTTMUST00000054192 VEGA | MGI Sequence Detail 2974 Not Applicable  
    polypeptide OTTMUSP00000025828 VEGA | MGI Sequence Detail 488 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      206 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 7
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2138321
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 1
      Gene Ontology 5
      Phenotypes 9
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:246593 Suzuki K, et al., High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice. PLoS One. 2017;12(6):e0180279

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory