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Slc52a3 Gene Detail
Summary
  • Symbol
    Slc52a3
  • Name
    solute carrier protein family 52, member 3
  • Synonyms
    2310046K01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916948
    NCBI Gene: 69698
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:151838431-151851178 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 74.83 cM, cytoband H1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    112 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916948
 protein coding gene Chr2:151838431-151851178 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026649
 protein coding gene Chr2:156510027-156522763 (+)
A/J MGP_AJ_G0026615
 protein coding gene Chr2:150277953-150287076 (+)
AKR/J MGP_AKRJ_G0026585
 protein coding gene Chr2:154668838-154672875 (+)
BALB/cJ MGP_BALBcJ_G0026624
 protein coding gene Chr2:150596227-150601098 (+)
C3H/HeJ MGP_C3HHeJ_G0026367
 protein coding gene Chr2:155054736-155058773 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027073
 protein coding gene Chr2:161072159-161083885 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024444
 protein coding gene Chr2:143885104-143898062 (+)
CAST/EiJ MGP_CASTEiJ_G0025828
 protein coding gene Chr2:155276221-155287917 (+)
CBA/J MGP_CBAJ_G0026345
 protein coding gene Chr2:166964096-166975746 (+)
DBA/2J MGP_DBA2J_G0026481
 protein coding gene Chr2:149503306-149511571 (+)
FVB/NJ MGP_FVBNJ_G0026446
 protein coding gene Chr2:147942143-147946180 (+)
LP/J MGP_LPJ_G0026585
 protein coding gene Chr2:156673993-156689095 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026468
 protein coding gene Chr2:171107599-171120322 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027128
 protein coding gene Chr2:154543999-154553107 (+)
PWK/PhJ MGP_PWKPhJ_G0025562
 protein coding gene Chr2:149020769-149033590 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025365
 protein coding gene Chr2:153374095-153387940 (+)
WSB/EiJ MGP_WSBEiJ_G0025898
 protein coding gene Chr2:155467156-155478911 (+)



Homology
more
  • Human Ortholog
    SLC52A3, solute carrier family 52 member 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC52A3, solute carrier family 52 member 3
  • Synonyms
    bA371L19.1, BVVLS, BVVLS1, C20orf54, hRFT2, RFT2, RFVT3
  • Links
    NCBI Gene ID: 113278
    neXtProt AC: NX_Q9NQ40
    UniProt: Q9NQ40

  • Chr Location
    20p13; chr20:760080-780033 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human SLC52A3 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 2 alleles in 3 genetic backgrounds
    13 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 abnormal placental riboflavin transport and sudden neonatal death associated with hyperlipidemia and hypoglycemia due to riboflavin deficiency.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    8
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
non-membrane-bounded 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
    789
  • Tissues
    54
  • cDNA Data
    29
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 69698 NCBI Gene Model | MGI Sequence Detail 12748 C57BL/6J ±  kb
    transcript NM_027172 RefSeq | MGI Sequence Detail 2698 C57BL/6  
    polypeptide Q9D6X5 UniProt | EBI | MGI Sequence Detail 460 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000032131 solute carrier family 52, riboflavin transporter, member 3
      (term hierarchy)
    • InterPro Domains
      IPR009357 Solute carrier family 52, riboflavin transporter
    Molecular
    Reagents
    less
    • All nucleic 30
      cDNA 29
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 5
      Gene Ontology 8
      Phenotypes 13
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    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
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory