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Aliases for SLC29A4 Gene

Aliases for SLC29A4 Gene

  • Solute Carrier Family 29 Member 4 2 3 4 5
  • Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 4 2 3
  • Solute Carrier Family 29 (Nucleoside Transporters), Member 4 2 3
  • Plasma Membrane Monoamine Transporter 3 4
  • ENT4 3 4
  • PMAT 3 4
  • Equilibrative Nucleoside Transporter 4 3
  • HENT4 4

External Ids for SLC29A4 Gene

Previous GeneCards Identifiers for SLC29A4 Gene

  • GC07P005032
  • GC07P005066
  • GC07P005095

Summaries for SLC29A4 Gene

Entrez Gene Summary for SLC29A4 Gene

  • This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for SLC29A4 Gene

SLC29A4 (Solute Carrier Family 29 Member 4) is a Protein Coding gene. Diseases associated with SLC29A4 include Desmoplastic Small Round Cell Tumor. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Metformin Pathway, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include monoamine transmembrane transporter activity and nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A3.

UniProtKB/Swiss-Prot for SLC29A4 Gene

  • 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.

Tocris 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, 2 and 3) display subtype-selective tissue expression patterns.

Gene Wiki entry for SLC29A4 Gene

Additional gene information for SLC29A4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC29A4 Gene

Genomics for SLC29A4 Gene

GeneHancer (GH) Regulatory Elements for SLC29A4 Gene

Promoters and enhancers for SLC29A4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I005282 Promoter 1.5 EPDnew Ensembl 550.4 +8.9 8932 1 PKNOX1 SAP130 KLF17 NFXL1 THRB GLIS2 POLR2A PATZ1 VEZF1 ZNF444 SLC29A4 PIR61767
GH07I005273 Enhancer 0.5 ENCODE 550.8 -0.2 -192 1 SOX5 SOX13 ZMYM3 ZBTB40 SLC29A4 GC07M005264
GH07I005275 Enhancer 0.5 ENCODE 550.8 +1.0 1026 0.6 SMARCA5 BCOR ZFP36 ZMYM3 KDM1A ZBTB33 SLC29A4 PIR61767
GH07I005274 Enhancer 0.3 ENCODE 550.8 +0.5 461 0 ZMYM3 SLC29A4 PIR61767
GH07I006246 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.6 +976.0 975970 6.7 PKNOX1 SMAD1 FEZF1 BATF IRF4 SCRT2 ATF7 ETV6 FOS BCLAF1 GC07M006227 PMS2 SLC29A4 ZDHHC4 CYTH3 ENSG00000202273 GC07M006212
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC29A4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC29A4 gene promoter:

Genomic Locations for SLC29A4 Gene

Genomic Locations for SLC29A4 Gene
chr7:5,274,369-5,306,870
(GRCh38/hg38)
Size:
32,502 bases
Orientation:
Plus strand
chr7:5,314,000-5,346,501
(GRCh37/hg19)

Genomic View for SLC29A4 Gene

Genes around SLC29A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC29A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC29A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC29A4 Gene

Proteins for SLC29A4 Gene

  • Protein details for SLC29A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTT9-S29A4_HUMAN
    Recommended name:
    Equilibrative nucleoside transporter 4
    Protein Accession:
    Q7RTT9
    Secondary Accessions:
    • Q6PJ08
    • Q86WY8
    • Q8NAR3
    • Q8NBM2

    Protein attributes for SLC29A4 Gene

    Size:
    530 amino acids
    Molecular mass:
    58059 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11612.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC29A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC29A4 Gene

Post-translational modifications for SLC29A4 Gene

No data available for DME Specific Peptides for SLC29A4 Gene

Domains & Families for SLC29A4 Gene

Gene Families for SLC29A4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC29A4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7RTT9

UniProtKB/Swiss-Prot:

S29A4_HUMAN :
  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
Family:
  • Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
genes like me logo Genes that share domains with SLC29A4: view

Function for SLC29A4 Gene

Molecular function for SLC29A4 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SLC29A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005337 nucleoside transmembrane transporter activity TAS --
GO:0008504 monoamine transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC29A4: view
genes like me logo Genes that share phenotypes with SLC29A4: view

Animal Models for SLC29A4 Gene

MGI Knock Outs for SLC29A4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC29A4 Gene

Localization for SLC29A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC29A4 Gene

Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Note=Located to the plasma membranes of ventricular myocytes and vascular endothelial cells. Targeted to the apical membranes of differentiated kidney epithelial cells. {ECO:0000269 PubMed:15448143, ECO:0000269 PubMed:16873718}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC29A4 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (3)
  • Microtubules (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC29A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC29A4: view

Pathways & Interactions for SLC29A4 Gene

genes like me logo Genes that share pathways with SLC29A4: view

Interacting Proteins for SLC29A4 Gene

Gene Ontology (GO) - Biological Process for SLC29A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015844 monoamine transport IEA --
GO:0055085 transmembrane transport IEA --
GO:1901642 nucleoside transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC29A4: view

No data available for SIGNOR curated interactions for SLC29A4 Gene

Drugs & Compounds for SLC29A4 Gene

(14) Drugs for SLC29A4 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cimetidine Approved, Investigational Pharma Inhibition, Inhibitor, antagonist H2 receptor antagonist 81
Quinidine Approved, Investigational Pharma Pore Blocker, blocker 48
Quinine Approved Pharma Pore Blocker, blocker 47
Verapamil Approved Pharma Channel blocker, blocker 135
Metformin Approved Pharma Transporter, substrate AMP-activated protein kinase (AMPK) activator 1891

(5) Additional Compounds for SLC29A4 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
sodium
  • Sodium
  • Sodium ion
7440-23-5
8MDP
29491-75-6

(4) Tocris Compounds for SLC29A4 Gene

Compound Action Cas Number
8MDP Potent equilibrative nucleoside transporter (ENT) inhibitor 29491-75-6
Dilazep dihydrochloride Adenosine uptake inhibitor 20153-98-4
Dipyridamole Adenosine transport inhibitor 58-32-2
NBMPR Equilibrative nucleoside transporter 1 (ENT1) inhibitor 38048-32-7
genes like me logo Genes that share compounds with SLC29A4: view

Transcripts for SLC29A4 Gene

Unigene Clusters for SLC29A4 Gene

Solute carrier family 29 (nucleoside transporters), member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1:
SP2:
SP3:
SP4: -
SP5: -
SP6: -
SP7:

Relevant External Links for SLC29A4 Gene

GeneLoc Exon Structure for
SLC29A4
ECgene alternative splicing isoforms for
SLC29A4

Expression for SLC29A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC29A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC29A4 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC29A4 Gene



Protein tissue co-expression partners for SLC29A4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC29A4 Gene:

SLC29A4

SOURCE GeneReport for Unigene cluster for SLC29A4 Gene:

Hs.4302

mRNA Expression by UniProt/SwissProt for SLC29A4 Gene:

Q7RTT9-S29A4_HUMAN
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.

Evidence on tissue expression from TISSUES for SLC29A4 Gene

  • Nervous system(4.9)
  • Kidney(4.3)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with SLC29A4: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC29A4 Gene

Orthologs for SLC29A4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC29A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SLC29A4 33 34
  • 87.92 (n)
cow
(Bos Taurus)
Mammalia SLC29A4 33 34
  • 87.15 (n)
mouse
(Mus musculus)
Mammalia Slc29a4 33 16 34
  • 84.7 (n)
rat
(Rattus norvegicus)
Mammalia Slc29a4 33
  • 84.55 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC29A4 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC29A4 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC29A4 33 34
  • 76.59 (n)
lizard
(Anolis carolinensis)
Reptilia SLC29A4 34
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc29a4 33 34
  • 68.63 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011796 33
  • 55.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ent3 33 34
  • 51.56 (n)
worm
(Caenorhabditis elegans)
Secernentea ent-7 34
  • 18 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ENT1 33
  • 43.66 (n)
rice
(Oryza sativa)
Liliopsida Os08g0205200 33
  • 46.01 (n)
Species where no ortholog for SLC29A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC29A4 Gene

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

Paralogs for SLC29A4 Gene

Paralogs for SLC29A4 Gene

Pseudogenes.org Pseudogenes for SLC29A4 Gene

genes like me logo Genes that share paralogs with SLC29A4: view

Variants for SLC29A4 Gene

Sequence variations from dbSNP and Humsavar for SLC29A4 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000014827 -- 5,283,534(+) A/G/T intron_variant
rs1000054071 -- 5,301,990(+) C/T intron_variant
rs1000186959 -- 5,293,641(+) G/C intron_variant
rs1000463913 -- 5,289,895(+) T/G intron_variant
rs1000522859 -- 5,292,780(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC29A4 Gene

Variant ID Type Subtype PubMed ID
nsv966751 CNV duplication 23825009
nsv830889 CNV loss 17160897
nsv823996 CNV gain 20364138
nsv8034 CNV gain 18304495
nsv436904 CNV insertion 17901297
nsv366287 CNV deletion 16902084
nsv1144165 CNV deletion 24896259
nsv1124165 CNV deletion 24896259
nsv1112923 CNV deletion 24896259
nsv1074478 CNV deletion 25765185
nsv1074066 CNV deletion 25765185
esv991341 CNV deletion 20482838
esv3611972 CNV loss 21293372
esv2733909 CNV deletion 23290073
esv2733908 CNV deletion 23290073
esv2675005 CNV deletion 23128226
dgv3482n106 OTHER inversion 24896259
dgv11167n54 CNV loss 21841781

Variation tolerance for SLC29A4 Gene

Residual Variation Intolerance Score: 55.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 48.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC29A4 Gene

Human Gene Mutation Database (HGMD)
SLC29A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC29A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC29A4 Gene

Disorders for SLC29A4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC29A4 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
desmoplastic small round cell tumor
  • desmoplastic small round-cell tumor
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC29A4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC29A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC29A4 Gene

Publications for SLC29A4 Gene

  1. Membrane localization and pH-dependent transport of a newly cloned organic cation transporter (PMAT) in kidney cells. (PMID: 17018840) Xia L … Wang J (American journal of physiology. Renal physiology 2007) 3 4 22 58
  2. Molecular determinants of substrate selectivity of a novel organic cation transporter (PMAT) in the SLC29 family. (PMID: 17121826) Zhou M … Wang J (The Journal of biological chemistry 2007) 3 4 22 58
  3. 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. (PMID: 17393420) Bottalico B … Hansson SR (Molecular reproduction and development 2007) 3 4 22 58
  4. Distribution and functional characterization of equilibrative nucleoside transporter-4, a novel cardiac adenosine transporter activated at acidic pH. (PMID: 16873718) Barnes K … Baldwin SA (Circulation research 2006) 3 4 22 58
  5. Identification and characterization of a novel monoamine transporter in the human brain. (PMID: 15448143) Engel K … Wang J (The Journal of biological chemistry 2004) 3 4 22 58

Products for SLC29A4 Gene

Sources for SLC29A4 Gene

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