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SLC29A3 Gene

protein-coding   GIFtS: 60
GCID: GC10P073080

Solute Carrier Family 29 (Equilibrative Nucleoside Transporter),...

(Previous names: solute carrier family 29 (nucleoside transporters), member...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member
31 2
     HJCD2
ENT32 3 5     Equilibrative Nucleoside Transporter 32
Solute Carrier Family 29 (Nucleoside Transporters), Member 31 2     hENT33
HCLAP2 5     Solute Carrier Family 29 Member 33
PHID2 5     

External Ids:    HGNC: 230961   Entrez Gene: 553152   Ensembl: ENSG000001982467   OMIM: 6123735   UniProtKB: Q9BZD23   

Export aliases for SLC29A3 gene to outside databases

Previous GC identifers: GC10P072971 GC10P072427 GC10P072423 GC10P072749 GC10P067074


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (equilibrative nucleoside transporter), member 3) is a protein-coding gene. Diseases associated with SLC29A3 include hypertrichosis, and histiocytosis-lymphadenopathy plus syndrome. GO annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A4.

UniProtKB/Swiss-Prot: S29A3_HUMAN, Q9BZD2
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

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 (CNT1-3) display
subtype-selective expression patterns; CNT1 is localized primarily to epithelial tissue whereas CNT2 and
CNT3 have more widespread distributions. SLC29 family transporters (ENT1-4) are glycosylated proteins,
localized to the plasma and mitochondrial membranes. They are expressed in the heart, brain, mammary gland,
erythrocytes and placenta, and also in fetal liver and spleen. They mediate nucleoside influx and efflux and
exhibit highest affinity for adenosine. CNT and ENT transporters play critical roles in nucleoside salvage
pathways where they mediate the first step of nucleotide biosynthesis. In addition, these transporters work
in concert to terminate adenosine signaling and are vital determinants in the response to a variety of
anticancer and antiviral treatments, as they modulate the entry of these nucleoside analogs into target
tissues.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC29A3 gene promoter:
         c-Fos   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC29A3 promoter sequence
   Search Chromatin IP Primers for SLC29A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC29A3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22.2

SLC29A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC29A3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P073080:  view genomic region     (about GC identifiers)

Start:
73,079,010 bp from pter      End:
73,123,147 bp from pter
Size:
44,138 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for SLC29A3

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S29A3_HUMAN, Q9BZD2 (See protein sequence)
Recommended Name: Equilibrative nucleoside transporter 3  
Size: 475 amino acids; 51815 Da
Sequence caution: Sequence=BAA92041.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2RB50 B4E2Z9 B7ZA37 Q0VAM9 Q5T465 Q7RTT8 Q8IVZ0 Q9BWI2 Q9NUS9
Alternative splicing: 2 isoforms:  Q9BZD2-1   Q9BZD2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC29A3: NX_Q9BZD2

Explore proteomics data for SLC29A3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn84
  • Modification sites at PhosphoSitePlus

  • See SLC29A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001167569.1  NP_060814.4  

    ENSEMBL proteins: 
     ENSP00000362285  
    Reactome Protein details: Q9BZD2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Equilibrative nucleoside transporter 3
    SLC29 family

    1 InterPro protein domain:
     IPR002259 Eqnu_transpt

    Graphical View of Domain Structure for InterPro Entry Q9BZD2

    ProtoNet protein and cluster: Q9BZD2

    1 Blocks protein domain: IPB002259 Delayed-early response protein/equilibrative nucleoside transporter signature

    UniProtKB/Swiss-Prot: S29A3_HUMAN, Q9BZD2
    Similarity: Belongs to the SLC29A/ENT transporter (TC 2.A.57) family


    SLC29A3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S29A3_HUMAN, Q9BZD2
    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
    Biophysicochemical properties: Kinetic parameters: KM=1.86 mM for adenosine; KM=2.02 mM for uridine; pH
    dependence: Optimum pH is 5.5 for adenosine uptake;

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005337nucleoside transmembrane transporter activity IEA--
         
    SLC29A3 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc29a3):
     cellular  hematopoietic system  immune system  mortality/aging  tumorigenesis 

    SLC29A3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC29A3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC29A3
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    miRNA
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    miRTarBase miRNAs that target SLC29A3:
    hsa-mir-335-5p (MIRT017125)

    Block miRNA regulation of human, mouse, rat SLC29A3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC29A3 (see all 9):
    hsa-miR-30c hsa-miR-206 hsa-miR-30d hsa-miR-1 hsa-miR-30a hsa-miR-1207-3p hsa-miR-30b hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidSLC29A3 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC29A3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S29A3_HUMAN, Q9BZD2: 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 COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    vacuole5
    plasma membrane3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0031902late endosome membrane IEA--

    SLC29A3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC29A3 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transmembrane transport of small molecules0.47
    2Transport of vitamins, nucleosides, and related molecules
    Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane0.00
    Transport of vitamins, nucleosides, and related molecules

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC29A3
        Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane



    SLC29A3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC29A3
    Interactions:

        Search GeneGlobe Interaction Network for SLC29A3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC29A3 (ENSP000003622854) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABHD11ENSP000002228004STRING: ENSP00000222800
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0015858nucleoside transport ----
    GO:0055085transmembrane transport TAS--

    SLC29A3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for SLC29A3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DipyridamoleAdenosine transport inhibitor[58-32-2]
    NBMPREquilibrative nucleoside transporter 1 (ENT1) inhibitor[38048-32-7]
    Dilazep dihydrochlorideAdenosine uptake inhibitor[20153-98-4]
    Decynium 22PMAT inhibitor[977-96-8]

    1 HMDB Compound for SLC29A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenine1,6-Dihydro-6-iminopurine (see all 19)73-24-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC29A3 gene (2 alternative transcripts): 
    NM_001174098.1  NM_018344.5  

    Unigene Cluster for SLC29A3:

    Solute carrier family 29 (nucleoside transporters), member 3
    Hs.438419  [show with all ESTs]
    Unigene Representative Sequence: NM_001174098
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373189(uc001jrs.4 uc001jrr.4 uc010qjq.2 uc001jrt.4)
    ENST00000479577 ENST00000469204
    miRNA
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    Block miRNA regulation of human, mouse, rat SLC29A3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC29A3 (see all 9):
    hsa-miR-30c hsa-miR-206 hsa-miR-30d hsa-miR-1 hsa-miR-30a hsa-miR-1207-3p hsa-miR-30b hsa-miR-613
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      QuantiFast Probe-based Assays in human, mouse, rat SLC29A3

    Additional mRNA sequence: 

    AF326987.1 AK002022.1 AK096743.1 AK304503.1 AK314497.1 AK316152.1 AY288928.1 AY358686.1 
    BC000223.1 BC041575.1 BC050589.1 BC063019.1 BC120996.1 BC120997.1 NR_033413.1 NR_033414.1 

    9 DOTS entries:

    DT.454856  DT.92422109  DT.100796590  DT.100883283  DT.100001081  DT.97839501  DT.100883281  DT.121216132 
    DT.87077844 

    Selected AceView cDNA sequences (see all 86):

    AW473372 CR602243 CR603307 AI418098 AW189402 AI653288 AL523642 CA306308 
    CA306540 AI584067 AX775919 CA306316 CB306048 BC063019 AX775921 CA424710 
    CB994733 AY358686 BX089135 CB992902 CB994271 BG421732 BM471958 CA432349 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A3 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
    SP1:        -                                                   
    SP2:                                                            
    SP3:        -           -                                       
    SP4:        -           -     -     -                           
    SP5:                                                            


    ECgene alternative splicing isoforms for SLC29A3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC29A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAAGCCAT
    SLC29A3 Expression
    About this image


    SLC29A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    SLC29A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC29A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438419

    UniProtKB/Swiss-Prot: S29A3_HUMAN, Q9BZD2
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC29A3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC29A3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc29a31 , 5 solute carrier family 29 (nucleoside transporters), more1, 5 78.18(n)1
    74.11(a)1
      10 (31.38 cM)5
    712791  NM_023596.31  NP_076085.11 
     607120725 
    chicken
    (Gallus gallus)
    Aves SLC29A31 solute carrier family 29 (nucleoside transporters), more 69.24(n)
    62.81(a)
      423717  XM_421594.4  XP_421594.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC29A36
    solute carrier family 29 (equilibrative nucleoside...
    56(a)
    1 ↔ 1
    3(47883498-47922862)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF222284.12   -- 72.28(n)    CF222284.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018871731 equilibrative nucleoside transporter 3-like 61.83(n)
    57.7(a)
      101887173  XM_005156525.1  XP_005156582.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ent16
    Equilibrative nucleoside transporter 1
    26(a)
    1 → many
    2L(355565-357874)
    worm
    (Caenorhabditis elegans)
    Secernentea ent-16
    Protein ENT-1, isoform a
    26(a)
    many ↔ many
    IV(11653418-11655470) WBGene00001320


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC29A3 gene
    SLC29A42  SLC29A12  SLC29A22  
    2 SIMAP similar genes for SLC29A3 using alignment to 1 protein entry:     S29A3_HUMAN:
    SLC29A1    SLC29A2

    SLC29A3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC29A3 (see all 1102)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219125831,2,,4
    CHistiocytosis-lymphadenopathy plus syndrome (HLAS)4 pathogenic173495946(+) GCAACA/GGCTAC 5 S G mis1 ut310--------
    VAR_0678044
    Histiocytosis-lymphadenopathy plus syndrome (HLAS)4--see VAR_0678042 S R mis40--------
    VAR_0678014
    Histiocytosis-lymphadenopathy plus syndrome (HLAS)4--see VAR_0678012 M R mis40--------
    VAR_0678094
    Histiocytosis-lymphadenopathy plus syndrome (HLAS)4--see VAR_0678092 T R mis40--------
    VAR_0678024
    Histiocytosis-lymphadenopathy plus syndrome (HLAS)4--see VAR_0678022 R C mis40--------
    VAR_0678074
    Histiocytosis-lymphadenopathy plus syndrome (HLAS)4--see VAR_0678072 R W mis40--------
    VAR_0678064
    Histiocytosis-lymphadenopathy plus syndrome (HLAS)4--see VAR_0678062 R Q mis40--------
    rs2676070571,2
    Cpathogenic173477748(+) CTCCAG/TGCTGT 6 R M mis1 int10--------
    rs1433545441,2
    C--67088753(+) TTTTC-/TTTTTTT 4 -- int10--------
    rs105526051,2
    C--67099473(+) CCTTC-/GAAG  
            
    CTAGG
    4 -- int12Minor allele frequency- GAAG:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for SLC29A3 (73079010 - 73123147 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC29A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv467371CNV Gain19166990

    Human Gene Mutation Database (HGMD): SLC29A3
    Locus Specific Mutation Databases (LSDB): SLC29A3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC29A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC29A3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612373   
    OMIM disorders: 602782  
    UniProtKB/Swiss-Prot: S29A3_HUMAN, Q9BZD2
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for SLC29A3 (see all 26):    
    About MalaCards
    hypertrichosis    histiocytosis-lymphadenopathy plus syndrome    dysosteosclerosis    rhinoscleroma
    familial sinus histiocytosis with massive lymphadenopathy    histiocytosis with joint contractures and sensorineural deafness    polyclonal hypergammaglobulinemia    rosai-dorfman disease
    was-related disorders    histiocytosis    hypogonadism    diabetes mellitus
    sensorineural hearing loss    sinusitis    osteopetrosis    short stature
    vitiligo    type 1 diabetes    systemic lupus erythematosus    lupus erythematosus

    3 diseases from the University of Copenhagen DISEASES database for SLC29A3:
    Hypertrichosis     Histiocytosis     Rhinoscleroma

    SLC29A3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC29A3
    Human Genome Epidemiology (HuGE) Navigator: SLC29A3 (4 documents)

    Export disorders for SLC29A3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC29A3 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with SLC29A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms. (PubMed id 11396612)1, 2, 3 Hyde R.J.... Baldwin S.A. (Mol. Membr. Biol. 2001)
    2. The H syndrome is caused by mutations in the nucleoside transporter hENT3. (PubMed id 18940313)1, 2, 9 Molho-Pessach V.... Zlotogorski A. (Am. J. Hum. Genet. 2008)
    3. Contribution of adenosine related genes to the risk of depression with disturbed sleep. (PubMed id 20392501)1, 4 Gass N....Paunio T. (J Affect Disord 2010)
    4. The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. (PubMed id 19889517)1, 2 Molho-Pessach V....Zlotogorski A. (J. Dermatol. Sci. 2010)
    5. H syndrome: novel and recurrent mutations in SLC29A3. (PubMed id 20199539)1, 2 Priya T.P....Zlotogorski A. (Br. J. Dermatol. 2010)
    6. Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. (PubMed id 20595384)1, 2 Kang N....Govindarajan R. (J. Biol. Chem. 2010)
    7. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. (PubMed id 20140240)1, 2 Morgan N.V.... Maher E.R. (PLoS Genet. 2010)
    8. [Relationship between single nucleotide polymorphism of the equilibrative nucleoside transporter ENT3 and susceptibility to lung cancer]. (PubMed id 20677642)1, 4 Li X....Zhou C. (Zhongguo Fei Ai Za Zhi 2010)
    9. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin- dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. (PubMed id 19336477)1, 2 Cliffe S.T.... Buckley M.F. (Hum. Mol. Genet. 2009)
    10. Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. (PubMed id 19581757)1, 4 Edghill E.L....Attersley A.T. (JOP 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55315 HGNC: 23096 AceView: SLC29A3 Ensembl:ENSG00000198246 euGenes: HUgn55315
    ECgene: SLC29A3 H-InvDB: SLC29A3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC29A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC29A3 gene:
    Search GeneIP for patents involving SLC29A3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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