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

SLC29A4 Gene

protein-coding   GIFtS: 55
GCID: GC07P005289

solute carrier family 29 (nucleoside transporters), member...

 Explore 4 diseases affiliated with
SLC29A4 via our new
 Human Malady Compendium 
Biological research products
for SLC29A4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 29 (Nucleoside Transporters), Member 41 2     PMAT2 3
ENT41 2 3     HENT41
Plasma Membrane Monoamine Transporter2 3     FLJ349231
Solute Carrier Family 29 Member 42 3     Equilibrative Nucleoside Transporter 42

External Ids:    HGNC: 230971   Entrez Gene: 2229622   Ensembl: ENSG000001646387   OMIM: 6091495   UniProtKB: Q7RTT93   

Export aliases for SLC29A4 gene to outside databases

Previous GC identifers: GC07P005032 GC07P005066 GC07P005095


(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 SLC29A4:
This gene is a member of the SLC29 family and encodes a plasma membrane protein with 11 transmembrane helices. This
protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of
monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the
neurotoxin 1-methyl-4-phenylpyridinium. Alternate transcriptional splice variants which encode the same protein have
been characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: S29A4_HUMAN, Q7RTT9
Function: Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as
monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine,
norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine
neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal
proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs
such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718)
adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in
the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for
cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane
potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep,
and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac
tissues, in particular during ischemia

summary for SLC29A4:
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.

Gene Wiki entry for SLC29A4


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC29A4 gene promoter:
         HOXA9   HOXA9B   AP-4   GATA-1   HNF-4alpha1   Evi-1   Meis-1b   FOXC1   Cart-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC29A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC29A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC29A4


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

Entrez Gene cytogenetic band: 7p22.1   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p22.2

SLC29A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC29A4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P005289:  view genomic region     (about GC identifiers)

Start:
5,314,000 bp from pter      End:
5,343,704 bp from pter
Size:
29,705 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 5,368,916-5,390,059     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S29A4_HUMAN, Q7RTT9 (See protein sequence)
Recommended Name: Equilibrative nucleoside transporter 4  
Size: 530 amino acids; 58059 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (Potential). Apical cell membrane; Multi-pass membrane
protein (Potential). Note=Located to the plasma membranes of ventricular myocytes and vascular endothelial cells.
Targeted to the apical membranes of differentiated kidney epithelial cells
Sequence caution: Sequence=BAC11612.1; Type=Erroneous initiation;
Secondary accessions: Q6PJ08 Q86WY8 Q8NAR3 Q8NBM2
Alternative splicing: 2 isoforms:  Q7RTT9-1   Q7RTT9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC29A4: NX_Q7RTT9

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7RTT9

  • SLC29A4 Protein expression data from MOPED and PaxDb:    About this image 
    SLC29A4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035751.1  NP_694979.2  

    ENSEMBL proteins: 
     ENSP00000406803   ENSP00000380081   ENSP00000413271   ENSP00000297195   ENSP00000385845  
    Reactome Protein details: Q7RTT9
    Human Recombinant Protein Products for SLC29A4: 
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    Uscn Proteins for SLC29A4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane IEA--

    SLC29A4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC29A4


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

    SLC29A4 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002259 Eqnu_transpt
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q7RTT9

    ProtoNet protein and cluster: Q7RTT9

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

    UniProtKB/Swiss-Prot: S29A4_HUMAN, Q7RTT9
    Similarity: Belongs to the SLC29A/ENT transporter (TC 2.A.57) family


    (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 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S29A4_HUMAN, Q7RTT9
    Function: Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as
    monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine,
    norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine
    neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal
    proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs
    such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718)
    adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in
    the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for
    cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane
    potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep,
    and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac
    tissues, in particular during ischemia

         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--
         
    SLC29A4 for ontologies           About GeneDecksing


    Animal Models:
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC29A4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport1.00
    Transmembrane transport of small molecules0.50
    2Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
    Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane1.00
    3Transport of organic anions
    Transport of vitamins, nucleosides, and related molecules0.35
    4Abacavir transport and metabolism
    Metformin Pathway, Pharmacokinetics0.21

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for SLC29A4
        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

    1 PharmGKB Pathway for SLC29A4
        Metformin Pathway, Pharmacokinetics


    SLC29A4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC29A4

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

    1 Interacting protein for SLC29A4 (ENSP000002971954) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --ENSP000003917984STRING: ENSP00000391798
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0055085transmembrane transport TAS--

    SLC29A4 for ontologies           About GeneDecksing



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

    SLC29A4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SLC29A4 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DipyridamoleAdenosine transport inhibitor[58-32-2]
    CilostazolPDE3A inhibitor. Also adenosine uptake inhibitor[73963-72-1]
    Dilazep dihydrochlorideAdenosine uptake inhibitor[35898-87-4]

    3 HMDB Compounds for SLC29A4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Inosine(-)-Inosine (see all 41)58-63-9--
    SodiumSodium (see all 2)7440-23-5--
    5 Novoseek chemical compound relationships for SLC29A4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    1 methyl 4 phenylpyridinium 74.4 7 17018840 (2), 9578404 (1), 17121826 (1)
    nucleoside 65.6 16 17121826 (2), 18523561 (1), 16873718 (1), 16099839 (1) (see all 7)
    dopamine 52.3 11 17408864 (2), 17110048 (1), 15448143 (1), 16353950 (1)
    norepinephrine 50.1 1 16353950 (1)
    histamine 19.1 2 17393420 (1), 16099839 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC29A4 / S29A4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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 SLC29A4 gene (2 alternative transcripts): 
    NM_001040661.1  NM_153247.2  

    Unigene Cluster for SLC29A4:

    Solute carrier family 29 (nucleoside transporters), member 4
    Hs.4302  [show with all ESTs]
    Unigene Representative Sequence: NM_001040661
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434816 ENST00000396872(uc011jwg.1 uc003sod.3 uc003soc.3 uc003soe.3)
    ENST00000444741 ENST00000297195 ENST00000406453 ENST00000439491

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    Additional cDNA sequence: 

    AK075422.1 AK092242.1 AK296278.1 AY485959.1 BC025325.1 BC047592.1 

    8 DOTS entries:

    DT.97763417  DT.100672219  DT.412035  DT.95260625  DT.121056760  DT.100704483  DT.121056746  DT.121056753 

    24/88 AceView cDNA sequences (see all 88):

    BE254576 BU181673 BM727466 BQ881308 CR624950 BU740709 BX446043 CR600939 
    CR620848 BM718458 BU181708 BE870830 BU187752 AA679723 BQ669191 BU501888 
    BX353072 BX404047 BM069878 BX333375 BM683503 BE885617 BQ898189 AK092242 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A4 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                                                        -                                 
    SP5:                                                        -                                 


    ECgene alternative splicing isoforms for SLC29A4

    (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

    SLC29A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGAGTCGG
    SLC29A4 Expression
    About this image

    SLC29A4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle

    See SLC29A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC29A4

    SOURCE GeneReport for Unigene cluster: Hs.4302

    UniProtKB/Swiss-Prot: S29A4_HUMAN, Q7RTT9
    Tissue specificity: Expressed abundantly in the heart, in both cardiomyocytes and vascular endothelial cells (at
    protein level). Highly expressed in brain, kidney and skeletal muscle. In the brain expressed in cerebellum, cerebral
    cortex, medulla, occipital pole, frontal and temporal lobes putamen and in the spinal cord. Lower expression in liver,
    pancreas, and liver. Expressed in endometrial tissue, exclusively in the stroma. Expression is high in the
    proliferative phase, decreases during the secretory phase, and is no longer detectable in the menstrual phase

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    In Situ
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    (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 eukaryotes.

    Orthologs for SLC29A4 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC29A41 solute carrier family 29 (nucleoside transporters), more 76.55(n)
    74(a)
      425593  XM_003642144.1  XP_003642192.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC29A46
    --
    62(a)
    1 ↔ 1
    GL343591.1(345693-355961)
    zebrafish
    (Danio rerio)
    Actinopterygii slc29a41 solute carrier family 29 (nucleoside transporters), more 68.43(n)
    67.98(a)
      559668  NM_001080572.1  NP_001074041.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ent31 Equilibrative nucleoside transporter 3 51.17(n)
    40.55(a)
      39461  NM_140351.2  NP_648608.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ENT11 equilibrative nucleotide transporter 1 45.25(n)
    35.17(a)
      843369  NM_105701.2  NP_564987.2 
    rice
    (Oryza sativa)
    Liliopsida Os08g02052001 hypothetical protein 46.25(n)
    31.01(a)
      4344923  NM_001067767.2  NP_001061232.2 


    ENSEMBL Gene Tree for SLC29A4 (if available)
    TreeFam Gene Tree for SLC29A4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC29A4 gene
    SLC29A32  SLC29A12  SLC29A22  

    SLC29A4 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for SLC29A4
    PGOHUM00000232752 PGOHUM00000232753 PGOHUM00000233324 PGOHUM00000233325


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/738 NCBI SNPs in SLC29A4 are shown (see all 738    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1405909781,2
    C--5320604(+) AGCAG-/CCCCCC 2 -- us2k10--------
    rs1846537941,2
    --5320658(+) CAGGTA/GAATGG 2 -- us2k10--------
    rs1880998511,2
    --5320766(+) ACTGCA/GCACTG 2 -- us2k10--------
    rs1155064111,2
    F--5320918(+) ACAACG/AGAGAT 2 -- us2k11Minor allele frequency- A:0.08WA 118
    rs799987891,2
    F--5321001(+) GCCTGG/AGCAGG 2 -- us2k12Minor allele frequency- A:0.03WA EA 238
    rs1411886981,2
    --5321095(+) CAGGTG/TTGATT 2 -- us2k10--------
    rs733328081,2
    C--5321113(+) GGTTCC/TTGATT 2 -- us2k12Minor allele frequency- T:0.04WA 120
    rs69623631,2
    C--5321132(+) AGGCTG/AGACCC 2 -- us2k14Minor allele frequency- A:0.07NA WA 124
    rs603102261,2
    F--5321369(+) GGAGCG/AGGTCG 2 -- us2k11Minor allele frequency- A:0.17EA 120
    rs47205561,2
    C,F--5321373(+) CGGGTC/TGAGGT 2 -- us2k16Minor allele frequency- T:0.13NA WA EA 364

    HapMap Linkage Disequilibrium report for SLC29A4 (5314000 - 5343704 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC29A4
         1 CNV: 31328
    Human Gene Mutation Database (HGMD): SLC29A4

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    (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.)
    About This Section

    SLC29A4 for disorders           About GeneDecksing

    OMIM gene information: 609149    OMIM disorders: --

    4 diseases for SLC29A4:    About MalaCards
    desmoplastic small round cell tumor    neuronitis    ischemia    cerebritis

    Human Genome Epidemiology (HuGE) Navigator: SLC29A4 (1 document)

    Export disorders for SLC29A4 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)
    About This Section

    PubMed articles for SLC29A4 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with SLC29A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular determinants of substrate selectivity of a novel organic cation transporter (PMAT) in the SLC29 family. (PubMed id 17121826)1, 2, 9 Zhou M.... Wang J. (2007)
    2. Membrane localization and pH-dependent transport of a newly cloned organic cation transporter (PMAT) in kidney cells. (PubMed id 17018840)1, 2, 9 Xia L....Wang J. (2007)
    3. Identification and characterization of a novel monoamine transporter in the human brain. (PubMed id 15448143)1, 2, 9 Engel K.... Wang J. (2004)
    4. The organic cation transporters (OCT1, OCT2, EMT) and the plasma membrane monoamine transporter (PMAT) show differential distribution and cyclic expression pattern in human endometrium and early pregnancy decidua. (PubMed id 17393420)1, 2, 9 Bottalico B.... Hansson S.R. (2007)
    5. Distribution and functional characterization of equilibrative nucleoside transporter-4, a novel cardiac adenosine transporter activated at acidic pH. (PubMed id 16873718)1, 2, 9 Barnes K.... Baldwin S.A. (2006)
    6. The equilibrative nucleoside transporter family, SLC29. (PubMed id 12838422)1, 3, 9 Baldwin S.A....Young J.D. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Interaction of organic cations with a newly identified plasma membrane monoamine transporter. (PubMed id 16099839)1, 9 Engel K. and Wang J. (2005)
    9. Podocyte-specific expression of organic cation transporter PMAT: implication in puromycin aminonucleoside nephrotoxicity. (PubMed id 19357181)1, 9 Xia L....Wang J. (2009)
    10. Adenosine transporter ENT4 is a direct target of EWS/WT1 translocation product and is highly expressed in desmoplastic small round cell tumor. (PubMed id 18523561)1, 9 Li H....Lee S.B. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 222962 HGNC: 23097 AceView: SLC29A4 Ensembl:ENSG00000164638 euGenes: HUgn222962
    ECgene: SLC29A4 H-InvDB: SLC29A4

    (According to HUGE)
    About This Section
      --

    (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 SLC29A4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC29A4 gene:
    Search GeneIP for patents involving SLC29A4

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



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