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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
    gene 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
    18
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 MGP_129S1SvImJ_G0016681
 protein coding gene Chr1:169685101-169701441 (+)
A/J MGP_AJ_G0016662
 protein coding gene Chr1:162753843-162770979 (+)
AKR/J MGP_AKRJ_G0016628
 protein coding gene Chr1:167693694-167710036 (+)
BALB/cJ MGP_BALBcJ_G0016623
 protein coding gene Chr1:163255743-163272628 (+)
C3H/HeJ MGP_C3HHeJ_G0016447
 protein coding gene Chr1:167889767-167906107 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017084
 protein coding gene Chr1:175371088-175387428 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014793
 protein coding gene Chr1:154736318-154752204 (+)
CAST/EiJ MGP_CASTEiJ_G0016027
 protein coding gene Chr1:167517827-167534103 (+)
CBA/J MGP_CBAJ_G0016422
 protein coding gene Chr1:181617359-181636500 (+)
DBA/2J MGP_DBA2J_G0016528
 protein coding gene Chr1:161650424-161666716 (+)
FVB/NJ MGP_FVBNJ_G0016526
 protein coding gene Chr1:160109056-160125304 (+)
LP/J MGP_LPJ_G0016599
 protein coding gene Chr1:170765769-170782109 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016551
 protein coding gene Chr1:189114379-189131756 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017120
 protein coding gene Chr1:167530193-167546482 (+)
PWK/PhJ MGP_PWKPhJ_G0015813
 protein coding gene Chr1:160841079-160857428 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015600
 protein coding gene Chr1:166405364-166421581 (+)
WSB/EiJ MGP_WSBEiJ_G0016089
 protein coding gene Chr1:167689356-167706608 (+)



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
    neXtProt AC: NX_O60779
    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
    21
  • GO References
    15
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
    719
  • 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 45
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 15
      Phenotypes 17
    • Earliest
      J:335803 Bettendorff L, The compartmentation of phosphorylated thiamine derivatives in cultured neuroblastoma cells. Biochim Biophys Acta. 1994 May 26;1222(1):7-14
    • 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)
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    Funding Information
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    11/19/2024
    MGI 6.24     		The Jackson Laboratory