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Slc29a3 Gene Detail
Summary
  • Symbol
    Slc29a3
  • Name
    solute carrier family 29 (nucleoside transporters), member 3
  • Synonyms
    4933435C21Rik, Ent3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918529
    NCBI Gene: 71279
Location & Maps
more
  • Sequence Map
    Chr10:60712072-60752794 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      40723 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SLC29A3, solute carrier family 29 member 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC29A3, solute carrier family 29 member 3
    Orthology source: HomoloGene
  • Synonyms
    ENT3, HCLAP, HJCD, PHID
  • Links
    NCBI Gene ID: 55315
    neXtProt AC: NX_Q9BZD2

  • Chr Location
    10q22.1; chr10:71319253-71363396 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 56805
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SLC29A3
  • Protein SuperFamily
    ENT
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human SLC29A3 associations

Human Disease Mouse Models
       Histiocytosis-Lymphadenopathy Plus Syndrome   OMIM: 602782
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Slc29a3
  • Incidental Mutations
    APF , CvDC
Mice homozygous for a knock-out allele exhibit lymphadenopathy, splenomegaly, histiocytic sarcoma, and premature death associated with extramedullary hematopoiesis, increased macrophage proliferation and apoptosis and abnormal lysosome function.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030007 VEGA Gene Model | MGI Sequence Detail 40723 C57BL/6J ±  kb
transcript OTTMUST00000074413 VEGA | MGI Sequence Detail 5240 Not Applicable  
polypeptide OTTMUSP00000038735 VEGA | MGI Sequence Detail 475 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    302 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000015056 equilibrative nucleoside transporter 3
  • InterPro Domains
    IPR002259 Equilibrative nucleoside transporter
    IPR030193 Equilibrative nucleoside transporter 3
Molecular
Reagents
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  • All nucleic 44
    cDNA 43
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGI:3035493
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 12
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:188342 Campeau PM, et al., Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Nov 15;21(22):4904-9

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
04/26/2016
MGI 6.03
The Jackson Laboratory