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SLC29A4 Gene

protein-coding   GIFtS: 57
GCID: GC07P005289

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

(Previous names: solute carrier family 29 (nucleoside transporters), member...)
  See SLC29A4-related disease
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
41 2
     Plasma Membrane Monoamine Transporter2 3
ENT42 3 5     Solute Carrier Family 29 Member 42 3
PMAT2 3 5     hENT42 3
Solute Carrier Family 29 (Nucleoside Transporters), Member 41 2     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC29A4 Gene:
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)

GeneCards Summary for SLC29A4 Gene:
SLC29A4 (solute carrier family 29 (equilibrative nucleoside transporter), member 4) is a protein-coding gene. Diseases associated with SLC29A4 include desmoplastic small round cell tumor. GO annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A1.

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 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.

Gene Wiki entry for SLC29A4 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC29A4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
5,346,501 bp from pter
Size:
32,502 bases      Orientation:
plus strand

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

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S29A4_HUMAN, Q7RTT9 (See protein sequence)
Recommended Name: Equilibrative nucleoside transporter 4  
Size: 530 amino acids; 58059 Da
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

Explore proteomics data for SLC29A4 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn523
  • Modification sites at PhosphoSitePlus

  • See SLC29A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001035751.1  NP_694979.2  

    ENSEMBL proteins: 
     ENSP00000406803   ENSP00000380081   ENSP00000413271   ENSP00000297195   ENSP00000385845  
    Reactome Protein details: Q7RTT9

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    antibodies-online proteins for SLC29A4 (2 products) 

     
    antibodies-online peptides for SLC29A4

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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: Plasma membrane monoamine transporter
    SLC29 family

    2 InterPro protein domains:
     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 domain: 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


    Find genes that share domains with SLC29A4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005337nucleoside transmembrane transporter activity IEA--
         
    Find genes that share ontologies with SLC29A4           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Slc29a4):
     nervous system 

    Find genes that share phenotypes with SLC29A4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc29a4tm1Jowg for SLC29A4

       genOway: Develop your customized and physiologically relevant rodent model for SLC29A4

    miRNA
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    (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
    S29A4_HUMAN, Q7RTT9: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    peroxisome2

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

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

    Find genes that share ontologies with SLC29A4           About GenesLikeMe


    (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 SLC29A4 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
    3Metformin Pathway, Pharmacokinetics
    Metformin Pathway, Pharmacokinetics


    Find genes that share SuperPaths with SLC29A4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC29A4
        Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

    1 PharmGKB Pathway for SLC29A4
        Metformin Pathway, Pharmacokinetics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC29A4
    Interactions:

        GeneGlobe Interaction 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)
    ENSG00000236250ENSP000003917984STRING: ENSP00000391798
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

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

    Find genes that share ontologies with SLC29A4           About GenesLikeMe



    (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
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      Browse compounds at ApexBio 

    Compounds for SLC29A4 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]

    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 IUPHAR Ligands for SLC29A4 (Plasma membrane monoamine transporter)    About this table
    LigandTypeActionAffinityPubmed IDs
    quinidine
    InhibitorInhibition16099839
    verapamil
    InhibitorInhibition16099839
    rhodamine123
    InhibitorInhibition16099839
    cimetidine
    InhibitorInhibition16099839
    quinine
    InhibitorInhibition16099839

    5 Novoseek inferred 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)



    Find genes that share compounds with SLC29A4           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 mRNA 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 

    Selected AceView cDNA sequences (see all 88):

    BU740709 CR624950 CR620848 BE254576 CR600939 BU181673 BM727466 BQ881308 
    BX446043 BX333374 BM833543 BM683503 AK075422 R13346 BX404047 AK092242 
    BQ669191 CD672281 BI962896 BE870830 BX333616 AI184476 BX355282 BX333375 

    GeneLoc Exon Structure

    Selected 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™, 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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    SLC29A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGAGTCGG
    SLC29A4 Expression
    About this image


    SLC29A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Mature Choroid Plexus Cells Choroid Plexus
             hippocampus   
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Spinal Cord (Nervous System)
    SLC29A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC29A4 Protein Expression

    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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    (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 eukaryotes.

    Orthologs for SLC29A4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc29a41 , 5 solute carrier family 29 (nucleoside transporters), more1, 5 84.7(n)1
    88.53(a)1
      5 (81.56 cM)5
    2433281  NM_146257.21  NP_666369.11 
     1427021015 
    chicken
    (Gallus gallus)
    Aves SLC29A41 solute carrier family 29 (nucleoside transporters), more 76.59(n)
    73.85(a)
      425593  XM_004945154.1  XP_004945211.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC29A46
    solute carrier family 29 (equilibrative nucleoside...
    70(a)
    1 ↔ 1
    GL343591.1(328584-358094)
    zebrafish
    (Danio rerio)
    Actinopterygii slc29a41 solute carrier family 29 (nucleoside transporters), more 68.63(n)
    68.57(a)
      559668  NM_001080572.1  NP_001074041.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ent31 Equilibrative nucleoside transporter 3 51.56(n)
    42.13(a)
      39461  NM_001274859.1  NP_001261788.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ent-76
    Protein ENT-7, isoform a
    18(a)
    many ↔ many
    I(9246025-9249383) WBGene00009499
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ENT11 ENT1 43.66(n)
    33.25(a)
      843369  NM_105701.2  NP_564987.2 
    rice
    (Oryza sativa)
    Liliopsida Os08g02052001 Os08g0205200 46.01(n)
    30.99(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)
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    Paralogs for SLC29A4 gene
    SLC29A12  SLC29A32  SLC29A22  

    Find genes that share paralogs with SLC29A4           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for SLC29A4
    PGOHUM00000232752 PGOHUM00000232753 PGOHUM00000233324 PGOHUM00000233325


    (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 SLC29A4 (see all 949)    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
    C,F--5321001(+) GCCTGG/AGCAGG 2 -- us2k12Minor allele frequency- A:0.03WA EA 238
    rs1411886981,2
    --5321095(+) CAGGTG/TTGATT 2 -- us2k10--------
    rs733328081,2
    C,F--5321113(+) GGTTCC/TTGATT 2 -- us2k12Minor allele frequency- T:0.04WA 120
    rs69623631,2
    C,F--5321132(+) AGGCTG/AGACCC 2 -- us2k14Minor allele frequency- A:0.07NA WA 124
    rs603102261,2
    C,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 - 5346501 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC29A4 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2733909CNV Deletion23290073
    esv2675005CNV Deletion23128226
    esv2733908CNV Deletion23290073
    esv991341CNV Deletion20482838
    nsv436904CNV Insertion17901297
    nsv366287CNV Loss16902084
    nsv830889CNV Loss17160897
    nsv887391CNV Loss21882294
    nsv887396CNV Loss21882294
    nsv887390CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC29A4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC29A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC29A4

    (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: 609149    OMIM disorders: --

    1 disease for SLC29A4:    
    About MalaCards
    desmoplastic small round cell tumor


    Find genes that share disorders with SLC29A4           About GenesLikeMe

    Genetic Association Database (GAD): SLC29A4
    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)
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    PubMed articles for SLC29A4 gene, integrated from 10 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. (J. Biol. Chem. 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. (Am. J. Physiol. 2007)
    3. Identification and characterization of a novel monoamine transporter in the human brain. (PubMed id 15448143)1, 2, 9 Engel K.... Wang J. (J. Biol. Chem. 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. (Mol. Reprod. Dev. 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. (Circ. Res. 2006)
    6. The equilibrative nucleoside transporter family, SLC29. (PubMed id 12838422)1, 3, 9 Baldwin S.A....Young J.D. (Pflugers Arch. 2004)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Interaction of organic cations with a newly identified plasma membrane monoamine transporter. (PubMed id 16099839)1, 9 Engel K. and Wang J. (Mol. Pharmacol. 2005)
    10. Podocyte-specific expression of organic cation transporter PMAT: implication in puromycin aminonucleoside nephrotoxicity. (PubMed id 19357181)1, 9 Xia L....Wang J. (Am. J. Physiol. Renal Physiol. 2009)

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

      Query String
    PubMed
    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: 222962 HGNC: 23097 AceView: SLC29A4 Ensembl:ENSG00000164638 euGenes: HUgn222962
    ECgene: SLC29A4 H-InvDB: SLC29A4

    (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 SLC29A4 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 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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