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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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:83012523-83038448 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 42.65 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    206 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1931307
protein coding gene Chr1:83012523-83038838 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016221
protein coding gene Chr1:83967976-83996681 (-)
A/J MGP_AJ_G0016204
protein coding gene Chr1:80978516-81007053 (-)
AKR/J MGP_AKRJ_G0016161
protein coding gene Chr1:83190703-83215297 (-)
BALB/cJ MGP_BALBcJ_G0016159
protein coding gene Chr1:81133588-81159341 (-)
C3H/HeJ MGP_C3HHeJ_G0015989
protein coding gene Chr1:83568714-83594751 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016612
protein coding gene Chr1:87218215-87245657 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014332
protein coding gene Chr1:76188052-76212981 (-)
CAST/EiJ MGP_CASTEiJ_G0015575
protein coding gene Chr1:82995961-83021058 (-)
CBA/J MGP_CBAJ_G0015963
protein coding gene Chr1:90007878-90032552 (-)
DBA/2J MGP_DBA2J_G0016064
protein coding gene Chr1:80256692-80282409 (-)
FVB/NJ MGP_FVBNJ_G0016067
protein coding gene Chr1:79375931-79400441 (-)
LP/J MGP_LPJ_G0016137
protein coding gene Chr1:85082609-85107729 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016087
protein coding gene Chr1:93367766-93393654 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016659
protein coding gene Chr1:83365860-83394535 (-)
PWK/PhJ MGP_PWKPhJ_G0015360
protein coding gene Chr1:79710792-79735841 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015138
protein coding gene Chr1:82494526-82579533 (-)
WSB/EiJ MGP_WSBEiJ_G0015635
protein coding gene Chr1:83148612-83177058 (-)



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 Slc19a3 mouse models; 1 with human SLC19A3 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    10 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038496 Ensembl Gene Model | MGI Sequence Detail 25926 C57BL/6J ±  kb
    transcript ENSMUST00000045560 Ensembl | MGI Sequence Detail 2974 Not Applicable  
    polypeptide ENSMUSP00000041683 Ensembl | MGI Sequence Detail 488 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 8
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2138321
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 7
      Phenotypes 10
    • 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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory