About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:82990244-83016169 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 42.65 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    680 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 Chr1:82990242-83016541 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC19A3, solute carrier family 19 member 3
  • Synonyms
    BBGD, hTHTR2, THMD2, thTr-2, THTR2
  • Links
    NCBI Gene ID: 80704
    neXtProt AC: NX_Q9BZV2
    UniProt: Q9BZV2

  • Chr Location
    2q36.3; chr2:227683763-227718028 (-)  GRCh38
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
less
  • Phenotype Summary
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    11 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
less
  • All GO Annotations
    19
  • GO References
    10
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    707
  • Tissues
    1
  • cDNA Data
    8
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 39
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 10
      Phenotypes 11
    • 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:336071 Yamashiro T, et al., Animal species differences in the pyridoxine transport function of SLC19A3: Absence of Slc19a3-mediated pyridoxine uptake in the rat small intestine. Drug Metab Pharmacokinet. 2022 Jun;44:100456
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory