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Aliases for SLC29A3 Gene

Aliases for SLC29A3 Gene

  • Solute Carrier Family 29 Member 3 2 3 4 5
  • Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 3 2 3
  • Solute Carrier Family 29 (Nucleoside Transporters), Member 3 2 3
  • ENT3 3 4
  • Equilibrative Nucleoside Transporter 3 3
  • HCLAP 3
  • HENT3 4
  • HJCD 3
  • PHID 3

External Ids for SLC29A3 Gene

Previous GeneCards Identifiers for SLC29A3 Gene

  • GC10P072971
  • GC10P072427
  • GC10P072423
  • GC10P072749
  • GC10P073080
  • GC10P067074

Summaries for SLC29A3 Gene

Entrez Gene Summary for SLC29A3 Gene

  • This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

GeneCards Summary for SLC29A3 Gene

SLC29A3 (Solute Carrier Family 29 Member 3) is a Protein Coding gene. Diseases associated with SLC29A3 include Histiocytosis-Lymphadenopathy Plus Syndrome and Dysosteosclerosis. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A1.

UniProtKB/Swiss-Prot for SLC29A3 Gene

  • Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.

Tocris Summary for SLC29A3 Gene

  • Nucleoside transporters are divided into two families: the Na+-dependent solute carrier family 28 (SLC28) and the equilibrative solute carrier family 29 (SLC29). SLC28 family transporters (CNT1, 2 and 3) display subtype-selective tissue expression patterns.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC29A3 Gene

Genomics for SLC29A3 Gene

Regulatory Elements for SLC29A3 Gene

Enhancers for SLC29A3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F071376 0.9 Ensembl ENCODE 20.2 +59.0 59049 4.3 HDGF ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZNF263 SLC29A3 CHST3 PIR36739 ENSG00000279406
GH10F071384 0.7 Ensembl ENCODE 19.9 +65.3 65300 0.5 CTCF ESRRA ZNF223 MAX EBF1 ZNF2 RAD21 RELA GLIS2 PATZ1 SLC29A3 GC10P071386 PIR34714 PIR36739
GH10F071357 1.2 Ensembl ENCODE 19 +39.8 39758 2.3 HDGF ATF1 PKNOX1 ARNT GATA2 ZNF143 FOS KDM4B KLF13 ZNF263 SLC29A3 CDH23 CDH23-AS1 ENSG00000279406 LOC105378353
GH10F071347 1.1 FANTOM5 ENCODE 16.6 +29.8 29805 2.4 PKNOX1 MLX ARID4B DMAP1 ZNF48 YY1 SP5 NFYC MXD4 MIER2 SLC29A3 CDH23 LOC105378353 ENSG00000279406
GH10F071338 1.2 Ensembl ENCODE 12 +22.9 22879 7.4 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS ZNF263 SP5 SLC29A3 CDH23 CEP57L1P1 LOC105378353
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC29A3 on UCSC Golden Path with GeneCards custom track

Promoters for SLC29A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005104 247 1401 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF143 ZNF263

Genomic Location for SLC29A3 Gene

71,319,253 bp from pter
71,363,396 bp from pter
44,144 bases
Plus strand

Genomic View for SLC29A3 Gene

Genes around SLC29A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC29A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC29A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC29A3 Gene

Proteins for SLC29A3 Gene

  • Protein details for SLC29A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Equilibrative nucleoside transporter 3
    Protein Accession:
    Secondary Accessions:
    • B2RB50
    • B4E2Z9
    • B7ZA37
    • Q0VAM9
    • Q5T465
    • Q7RTT8
    • Q8IVZ0
    • Q9BWI2
    • Q9NUS9

    Protein attributes for SLC29A3 Gene

    475 amino acids
    Molecular mass:
    51815 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA92041.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC29A3 Gene


neXtProt entry for SLC29A3 Gene

Post-translational modifications for SLC29A3 Gene

  • Glycosylation at Asn 84
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC29A3 Gene

No data available for DME Specific Peptides for SLC29A3 Gene

Domains & Families for SLC29A3 Gene

Gene Families for SLC29A3 Gene

Suggested Antigen Peptide Sequences for SLC29A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
genes like me logo Genes that share domains with SLC29A3: view

Function for SLC29A3 Gene

Molecular function for SLC29A3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.86 mM for adenosine {ECO:0000269 PubMed:15701636}; KM=2.02 mM for uridine {ECO:0000269 PubMed:15701636}; pH dependence: Optimum pH is 5.5 for adenosine uptake. {ECO:0000269 PubMed:15701636};
UniProtKB/Swiss-Prot Function:
Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.

Gene Ontology (GO) - Molecular Function for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005337 nucleoside transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC29A3: view
genes like me logo Genes that share phenotypes with SLC29A3: view

Human Phenotype Ontology for SLC29A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC29A3 Gene

MGI Knock Outs for SLC29A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC29A3

miRNA for SLC29A3 Gene

miRTarBase miRNAs that target SLC29A3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC29A3 Gene

Localization for SLC29A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC29A3 Gene

Membrane; Multi-pass membrane protein. Late endosome membrane. Lysosome membrane. Note=Observed in a punctate intracellular pattern showing partial colocalization with late endosomes/lysosomes. Not detected at the cell surface.

Subcellular locations from

Jensen Localization Image for SLC29A3 Gene COMPARTMENTS Subcellular localization image for SLC29A3 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
plasma membrane 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC29A3: view

Pathways & Interactions for SLC29A3 Gene

genes like me logo Genes that share pathways with SLC29A3: view

Interacting Proteins for SLC29A3 Gene

Gene Ontology (GO) - Biological Process for SLC29A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015858 nucleoside transport IEA --
GO:1901642 nucleoside transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC29A3: view

No data available for SIGNOR curated interactions for SLC29A3 Gene

Drugs & Compounds for SLC29A3 Gene

(5) Drugs for SLC29A3 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenine Approved Nutra 0
Dipyridamole Approved Pharma Inhibition, Inhibitor Adenosine transport inhibitor 80
Decynium 22 Pharma PMAT inhibitor 0
Dilazep dihydrochloride Pharma Adenosine uptake inhibitor 0
NBMPR Pharma Equilibrative nucleoside transporter 1 (ENT1) inhibitor 0

(1) Additional Compounds for SLC29A3 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for SLC29A3 Gene

Compound Action Cas Number
8MDP Potent equilibrative nucleoside transporter (ENT) inhibitor 29491-75-6
Decynium 22 PMAT inhibitor 977-96-8
Dilazep dihydrochloride Adenosine uptake inhibitor 20153-98-4
Dipyridamole Adenosine transport inhibitor 58-32-2
NBMPR Equilibrative nucleoside transporter 1 (ENT1) inhibitor 38048-32-7
genes like me logo Genes that share compounds with SLC29A3: view

Transcripts for SLC29A3 Gene

Unigene Clusters for SLC29A3 Gene

Solute carrier family 29 (nucleoside transporters), member 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1: -
SP3: - -
SP4: - - - -
SP6: -

Relevant External Links for SLC29A3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC29A3 Gene

mRNA expression in normal human tissues for SLC29A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC29A3 Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC29A3 Gene

Protein tissue co-expression partners for SLC29A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC29A3 Gene:


SOURCE GeneReport for Unigene cluster for SLC29A3 Gene:


mRNA Expression by UniProt/SwissProt for SLC29A3 Gene:

Tissue specificity: Widely expressed in both adult and fetal tissues. Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow. Lowest levels in brain and heart.
genes like me logo Genes that share expression patterns with SLC29A3: view

Primer Products

No data available for mRNA differential expression in normal tissues for SLC29A3 Gene

Orthologs for SLC29A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC29A3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC29A3 34 35
  • 98.6 (n)
(Bos Taurus)
Mammalia SLC29A3 34 35
  • 83.54 (n)
-- 35
  • 81 (a)
(Canis familiaris)
Mammalia SLC29A3 34 35
  • 82.73 (n)
(Mus musculus)
Mammalia Slc29a3 34 16 35
  • 78.18 (n)
(Rattus norvegicus)
Mammalia Slc29a3 34
  • 76.63 (n)
(Monodelphis domestica)
Mammalia SLC29A3 35
  • 67 (a)
(Gallus gallus)
Aves SLC29A3 34 35
  • 69.24 (n)
(Anolis carolinensis)
Reptilia SLC29A3 35
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc29a3 34
  • 59.32 (n)
(Danio rerio)
Actinopterygii LOC101887173 34
  • 61.83 (n)
slc29a3 35
  • 55 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ent1 35
  • 26 (a)
(Caenorhabditis elegans)
Secernentea ent-1 35
  • 26 (a)
Species where no ortholog for SLC29A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC29A3 Gene

Gene Tree for SLC29A3 (if available)
Gene Tree for SLC29A3 (if available)

Paralogs for SLC29A3 Gene

Paralogs for SLC29A3 Gene

(2) SIMAP similar genes for SLC29A3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC29A3: view

Variants for SLC29A3 Gene

Sequence variations from dbSNP and Humsavar for SLC29A3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121912583 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782], Pathogenic 71,362,459(+) GCAAC(A/G)GCTAC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs121912584 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782], Pathogenic 71,362,489(+) TCTAC(A/G)GGCCT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs267607057 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782], Pathogenic 71,344,255(+) CTCCA(G/T)GCTGT intron-variant, upstream-variant-2KB, reference, missense
rs267607058 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782], Pathogenic 71,362,526(+) GGCCA(C/G/T)GGGAG nc-transcript-variant, reference, missense, utr-variant-3-prime
rs387907066 Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782], Pathogenic 71,362,268(+) TGGCC(A/G)GCAGC nc-transcript-variant, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC29A3 Gene

Variant ID Type Subtype PubMed ID
nsv1044971 CNV gain 25217958
nsv467371 CNV gain 19166990
nsv551500 CNV gain 21841781

Variation tolerance for SLC29A3 Gene

Residual Variation Intolerance Score: 90.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.55; 98.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC29A3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC29A3 Gene

Disorders for SLC29A3 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SLC29A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
histiocytosis-lymphadenopathy plus syndrome
  • hartnup disease
  • hypertrichosis nos
  • chronic histiocytosis x
middle ear disease
  • disorder of middle ear
- elite association - COSMIC cancer census association via MalaCards


  • Histiocytosis-lymphadenopathy plus syndrome (HLAS) [MIM:602782]: A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome. {ECO:0000269 PubMed:18940313, ECO:0000269 PubMed:19336477, ECO:0000269 PubMed:19889517, ECO:0000269 PubMed:20140240, ECO:0000269 PubMed:20199539, ECO:0000269 PubMed:20399510, ECO:0000269 PubMed:20619369, ECO:0000269 PubMed:21888995}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC29A3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SLC29A3: view

No data available for Genatlas for SLC29A3 Gene

Publications for SLC29A3 Gene

  1. The H syndrome is caused by mutations in the nucleoside transporter hENT3. (PMID: 18940313) Molho-Pessach V. … Zlotogorski A. (Am. J. Hum. Genet. 2008) 3 4 22 64
  2. The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms. (PMID: 11396612) Hyde R.J. … Baldwin S.A. (Mol. Membr. Biol. 2001) 2 3 4 64
  3. The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. (PMID: 19889517) Molho-Pessach V. … Zlotogorski A. (J. Dermatol. Sci. 2010) 3 4 64
  4. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. (PMID: 20140240) Morgan N.V. … Maher E.R. (PLoS Genet. 2010) 3 4 64
  5. Contribution of adenosine related genes to the risk of depression with disturbed sleep. (PMID: 20392501) Gass N. … Paunio T. (J Affect Disord 2010) 3 46 64

Products for SLC29A3 Gene

Sources for SLC29A3 Gene

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