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Slc19a2 Gene Detail
Summary
  • Symbol
    Slc19a2
  • Name
    solute carrier family 19 (thiamine transporter), member 2
  • Synonyms
    DDA1, THTR1, TRMA
  • Feature Type
    protein coding gene
  • IDs
    MGI:1928761
    NCBI Gene: 116914
  • Alliance
    genome feature page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:164076615-164092954 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 71.56 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    619 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1928761
 protein coding gene Chr1:164076615-164092954 (+)
129S1/SvImJ ENSMUSG00200005559
 protein coding gene Chr1:161547426-161563766 (+)
A/J ENSMUSG00195020763
 protein coding gene Chr1:160887662-160904004 (+)
AKR/J ENSMUSG00220012883
 protein coding gene Chr1:160668317-160684661 (+)
BALB/cJ ENSMUSG00180034100
 protein coding gene Chr1:161129612-161145952 (+)
C3H/HeJ ENSMUSG00175035709
 protein coding gene Chr1:161220230-161236570 (+)
C57BL/6NJ ENSMUSG00215038081
 protein coding gene Chr1:161097433-161113775 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014793
 protein coding gene Chr1:154736318-154752204 (+)
CAST/EiJ ENSTCUG00005019605
 protein coding gene Chr1:159693855-159710133 (+)
CBA/J ENSMUSG00210021148
 protein coding gene Chr1:161092843-161109185 (+)
DBA/2J ENSMUSG00185010383
 protein coding gene Chr1:165327471-165343765 (+)
FVB/NJ ENSMUSG00205008583
 protein coding gene Chr1:160168843-160185109 (+)
JF1/MsJ ENSUMUG00000005699
 protein coding gene Chr1:164477813-164494133 (+)
LP/J ENSMUSG00230019976
 protein coding gene Chr1:164957849-164974189 (+)
NOD/ShiLtJ ENSMUSG00190024483
 protein coding gene Chr1:160933813-160950078 (+)
NZO/HlLtJ ENSMUSG00225003084
 protein coding gene Chr1:168551329-168567618 (+)
PWK/PhJ ENSLUMG00010042478
 protein coding gene Chr1:159864404-159880694 (+)
SPRET/EiJ ENSMSPG00010037298
 protein coding gene Chr1:163368839-163383370 (+)
WSB/EiJ ENSIUOG00005014056
 protein coding gene Chr1:160432134-160448400 (+)



Homology
more
  • Human Ortholog
    SLC19A2, solute carrier family 19 member 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC19A2, solute carrier family 19 member 2
  • Synonyms
    TC1, THMD1, THT1, THTR1, TRMA
  • Links
    NCBI Gene ID: 10560
    UniProt: O60779

  • Chr Location
    1q24.2; chr1:169463909-169485970 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc19a2 mouse models; 3 with human SLC19A2 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 2 alleles in 2 genetic backgrounds
    17 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.
Homozygotes for targeted null alleles exhibit a grossly normal phenotype except for reduced testis size and male infertility. On a low-thiamine diet, mutants show premature death and sensorineural deafness, while homozygotes for one targeted allele also display diabetes mellitus and megaloblastosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    20
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
    610
  • Tissues
    12
  • cDNA Data
    38
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 116914 NCBI Gene Model | MGI Sequence Detail 16340 C57BL/6J ±  kb
    transcript NM_054087 RefSeq | MGI Sequence Detail 3571 ZRU/MplStud  
    polypeptide Q9EQN9 UniProt | EBI | MGI Sequence Detail 498 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      cDNA 38
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2138530, MGI:2138585
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 20
      Phenotypes 17
    • Earliest
      J:16454 Dixon KH, et al., A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells. J Biol Chem. 1994 Jan 7;269(1):17-20
    • Latest
      J:362047 Niu H, et al., Phospholipid scrambling induced by an ion channel/metabolite transporter complex. Nat Commun. 2024 Aug 31;15(1):7566
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory