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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC29A3 Gene

protein-coding   GIFtS: 58
GCID: GC10P073080

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

(Previous names: solute carrier family 29 (nucleoside transporters), member...)
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Aliases
for SLC29A3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member
31 2
     PHID2
ENT32 3 5     Equilibrative Nucleoside Transporter 32
Solute Carrier Family 29 (Nucleoside Transporters), Member 31 2     hENT33
HCLAP2     Solute Carrier Family 29 Member 33
HJCD2     

External Ids:    HGNC: 230961   Entrez Gene: 553152   Ensembl: ENSG000001982467   OMIM: 6123735   UniProtKB: Q9BZD23   
ORGUL members:         
NONCODE14:n409246 n409247      

Export aliases for SLC29A3 gene to outside databases

Previous GC identifers: GC10P072971 GC10P072427 GC10P072423 GC10P072749 GC10P067074


Summaries
for SLC29A3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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, and is affiliated with the lncRNA class. Diseases associated with SLC29A3 include hypertrichosis, and hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism, and among its related super-pathways are Transmembrane transport of small molecules and Transport of organic anions. 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.




Genomic Views
for SLC29A3 gene

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences 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 plasmid: SLC29A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC29A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC29A3 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: S29A3_HUMAN, Q9BZD2 (See protein sequence)
Recommended Name: Equilibrative nucleoside transporter 3  
Size: 475 amino acids; 51815 Da
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BZD2

    • SLC29A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC29A3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001167569.1  NP_060814.4  

    ENSEMBL proteins: 
     ENSP00000362285  
    Reactome Protein details: Q9BZD2
    Human Recombinant Protein Products for SLC29A3: 
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    Novus Biologicals SLC29A3 Lysate
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC29A3 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    SLC29A3 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for SLC29A3 
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    Protein Domains /
    Families
    for SLC29A3 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 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


    Function
    for SLC29A3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    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:
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    miRNA
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    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 plasmid: SLC29A3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Pathways & Interactions
    for SLC29A3 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC29A3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport0.50
    		Transmembrane transport of small molecules0.50
    2Transport of organic anions
    		Transport of vitamins, nucleosides, and related molecules0.34
    3Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
    		Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SLC29A3
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
    Transport of vitamins, nucleosides, and related molecules



    SLC29A3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC29A3

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

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

    SLC29A3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC29A3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about SLC29A3 / S29A3

    Transcripts
    for SLC29A3 gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

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    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 

    24/86 AceView cDNA sequences (see all 86):

    AI418098 AI653288 BC063019 AW473372 CA306540 AX775919 AI584067 CA306316 
    CA306308 AW189402 CR603307 AL523642 CB306048 CR602243 BC041575 BI767499 
    BX342389 CD629217 AU137690 AL540711 BM451417 BU159267 BM471958 CB154002 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for SLC29A3 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See SLC29A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC29A3

    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
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    Orthologs
    for SLC29A3 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC29A3 gene from 8/14 species (see all 14)    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 69.46(n)
    63.04(a)    		   423717  XM_421594.3  XP_421594.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC29A36
    		 Uncharacterized protein
    		 55(a)
    		 1 ↔ 1
    		 3(47883498-47922862)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia CF222284.12   -- 72.28(n)    CF222284.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii si:dkey-78p8.21 si:dkey-78p8.2 61.82(n)
    57.88(a)    		   100005357  XM_001344402.4  XP_001344438.4 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Ent26
    Ent16
    		 Equilibrative nucleoside transporter 1
    		 25(a)
    24(a)
    		 possible ortholog
    many → 1
    		 2L(6562318-6564396)
    2L(355565-357874)
    worm
    (Caenorhabditis elegans)    		 Secernentea ent-46
    ent-16
    (see all 7)    		 Protein ENT-1, isoform a
    (see all 7)    		 25(a)
    24(a)
    (see all 7)    		 possible ortholog
    possible ortholog
    (see all 7)    		 IV(10017425-10021286)
    IV(11653418-11655470)
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes FUN266
    		 Vacuolar membrane transporter with broad nucleosid...
    		 18(a)
    		 1 → many
    		 I(108877-110430)


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

    Paralogs
    for SLC29A3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for SLC29A3 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1102 SNPs in SLC29A3 are shown (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
    ----------
    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--------
    rs1219125831,2,4
    		CHistiocytosis-lymphadenopathy plus syndrome (HLAS)4 pathogenic173495946(+) GCAACA/GGCTAC 5 S G mis1 ut310--------
    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
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SLC29A3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC29A3 for disorders           About GeneDecksing

    OMIM gene information: 612373   
    OMIM disorders: 612391  
    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

    19 diseases for SLC29A3:    About MalaCards
    hypertrichosis    hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism    dysosteosclerosis    pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome
    rhinoscleroma    familial sinus histiocytosis with massive lymphadenopathy    histiocytosis with joint contractures and sensorineural deafness    polyclonal hypergammaglobulinemia
    rosai-dorfman disease    was-related disorders    hypogonadism    histiocytosis
    sensorineural hearing loss    diabetes mellitus    short stature    sinusitis
    type 1 diabetes    alzheimer's disease    cervicitis

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

    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SLC29A3
    Human Genome Epidemiology (HuGE) Navigator: SLC29A3 (4 documents)

    Export disorders for SLC29A3 gene to outside databases

    Publications
    for SLC29A3 gene

    (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)
    About This Section

    PubMed articles for SLC29A3 gene, integrated from 9 sources (see all 30):
    (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. (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. (2008)
    3. Contribution of adenosine related genes to the risk o f depression with disturbed sleep. (PubMed id 20392501)1, 4 Gass N....Paunio T. (2010)
    4. The H syndrome: two novel mutations affecting the sam e amino acid residue of hENT3. (PubMed id 19889517)1, 2 Molho-Pessach V....Zlotogorski A. (2010)
    5. H syndrome: novel and recurrent mutations in SLC29A3. (PubMed id 20199539)1, 2 Priya T.P....Zlotogorski A. (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. (2010)
    7. Mutations in SLC29A3, encoding an equilibrative nucle oside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad his tiocytosis) and familial Rosai-Dorfman disease. (PubMed id 20140240)1, 2 Morgan N.V....Maher E.R. (2010)
    8. [Relationship between single nucleotide polymorphism of the equilibrative nucleoside transporter ENT3 and susceptibility to lung can cer]. (PubMed id 20677642)1, 4 Li X....Zhou C. (2010)
    9. SLC29A3 gene is mutated in pigmented hypertrichosis w ith insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. (PubMed id 19336477)1, 2 Cliffe S.T....Buckley M.F. (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. (2009)

    External Searches for SLC29A3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    Genome Databases showing SLC29A3 gene

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

    Other Databases showing SLC29A3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC29A3 gene

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

    Intellectual Property
    for SLC29A3 gene

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

    GeneCards and IP:
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