The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by ... See more...

Aliases for SLC29A2 Gene

Aliases for SLC29A2 Gene

  • Solute Carrier Family 29 Member 2 2 3 4 5
  • DER12 2 3 4
  • Equilibrative Nitrobenzylmercaptopurine Riboside-Insensitive Nucleoside Transporter 3 4
  • Solute Carrier Family 29 (Equilibrative Nucleoside Transporter), Member 2 2 3
  • Equilibrative NBMPR-Insensitive Nucleoside Transporter 3 4
  • Equilibrative Nucleoside Transporter 2 3 4
  • Hydrophobic Nucleolar Protein, 36 KDa 3 4
  • Delayed-Early Response Protein 12 3 4
  • Nucleoside Transporter, Ei-Type 3 4
  • 36 KDa Nucleolar Protein HNP36 3 4
  • HNP36 3 4
  • ENT2 3 4
  • Solute Carrier Family 29 (Nucleoside Transporters), Member 2 3
  • Hydrophobic Nucleolar Protein, 36kD 3
  • SLC29A2 5

External Ids for SLC29A2 Gene

Previous HGNC Symbols for SLC29A2 Gene

  • ENT2
  • HNP36

Previous GeneCards Identifiers for SLC29A2 Gene

  • GC11M068664
  • GC11M067811
  • GC11M066379
  • GC11M065905
  • GC11M065886
  • GC11M066129
  • GC11M062455
  • GC11M066363

Summaries for SLC29A2 Gene

Entrez Gene Summary for SLC29A2 Gene

  • The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]

GeneCards Summary for SLC29A2 Gene

SLC29A2 (Solute Carrier Family 29 Member 2) is a Protein Coding gene. Diseases associated with SLC29A2 include Hepatic Adenomas, Familial and Histiocytosis-Lymphadenopathy Plus Syndrome. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A1.

UniProtKB/Swiss-Prot Summary for SLC29A2 Gene

  • Mediates equilibrative transport of purine, pyrimidine nucleosides and the purine base hypoxanthine. Very less sensitive than SLC29A1 to inhibition by nitrobenzylthioinosine (NBMPR), dipyridamole, dilazep and draflazine.

Tocris Summary for SLC29A2 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 SLC29A2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC29A2 Gene

Genomics for SLC29A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC29A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC29A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC29A2

Top Transcription factor binding sites by QIAGEN in the SLC29A2 gene promoter:
  • ARP-1
  • ATF-2
  • c-Jun
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for SLC29A2 Gene

Latest Assembly
chr11:66,362,521-66,372,476
(GRCh38/hg38)
Size:
9,956 bases
Orientation:
Minus strand

Previous Assembly
chr11:66,129,992-66,139,917
(GRCh37/hg19 by Entrez Gene)
Size:
9,926 bases
Orientation:
Minus strand

chr11:66,129,992-66,139,685
(GRCh37/hg19 by Ensembl)
Size:
9,694 bases
Orientation:
Minus strand

Genomic View for SLC29A2 Gene

Genes around SLC29A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC29A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC29A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC29A2 Gene

Proteins for SLC29A2 Gene

  • Protein details for SLC29A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14542-S29A2_HUMAN
    Recommended name:
    Equilibrative nucleoside transporter 2
    Protein Accession:
    Q14542
    Secondary Accessions:
    • B3KPY7
    • O43530
    • Q52M84
    • Q96R00
    • Q9UPE0

    Protein attributes for SLC29A2 Gene

    Size:
    456 amino acids
    Molecular mass:
    50113 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA60380.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for SLC29A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC29A2 Gene

Post-translational modifications for SLC29A2 Gene

  • Glycosylation at Asn48, Asn57, and Asn225
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for SLC29A2

No data available for DME Specific Peptides for SLC29A2 Gene

Domains & Families for SLC29A2 Gene

Gene Families for SLC29A2 Gene

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

Protein Domains for SLC29A2 Gene

InterPro:
Blocks:
  • Delayed-early response protein/equilibrative nucleoside transporter signature

Suggested Antigen Peptide Sequences for SLC29A2 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 29 member 2 (S29A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14542

UniProtKB/Swiss-Prot:

S29A2_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 SLC29A2: view

Function for SLC29A2 Gene

Molecular function for SLC29A2 Gene

UniProtKB/Swiss-Prot Function:
Mediates equilibrative transport of purine, pyrimidine nucleosides and the purine base hypoxanthine. Very less sensitive than SLC29A1 to inhibition by nitrobenzylthioinosine (NBMPR), dipyridamole, dilazep and draflazine.
UniProtKB/Swiss-Prot Induction:
By PDGF/platelet derived growth factor and fibroblast growth factor (FGF).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.2 mM for uridine {ECO:0000269|PubMed:12527552, ECO:0000269|PubMed:9396714}; KM=0.75 mM for adenosine {ECO:0000269|PubMed:12527552, ECO:0000269|PubMed:9396714}; Note=Vmax for adenosine uptake is about the same for SLC29A1 and SLC29A2.;
GENATLAS Biochemistry:
solute carrier family 29,member A2,equilibrative nucleoside transporter,growth factor responsive,delayed early response gene of unknown function,expressed in pituitary and parathyroid glands,not mutated in MEN1

Phenotypes From GWAS Catalog for SLC29A2 Gene

Gene Ontology (GO) - Molecular Function for SLC29A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005326 neurotransmitter transporter activity IEA,ISS --
GO:0005337 nucleoside transmembrane transporter activity IBA 21873635
GO:0015211 purine nucleoside transmembrane transporter activity IEA,ISS --
GO:0015213 uridine transmembrane transporter activity IDA 9396714
genes like me logo Genes that share ontologies with SLC29A2: view
genes like me logo Genes that share phenotypes with SLC29A2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC29A2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC29A2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC29A2 Gene

Localization for SLC29A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC29A2 Gene

Basolateral cell membrane. Multi-pass membrane protein. Nucleus membrane. Multi-pass membrane protein. Note=Localized at the basolateral cell membrane in polarized MDCK cells.

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 SLC29A2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
extracellular 2
mitochondrion 2
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC29A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus TAS 7639753
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC29A2: view

Pathways & Interactions for SLC29A2 Gene

genes like me logo Genes that share pathways with SLC29A2: view

Gene Ontology (GO) - Biological Process for SLC29A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake IEA,ISS --
GO:0006836 neurotransmitter transport IDA 9396714
GO:0015853 adenine transport IBA 21873635
GO:0015854 guanine transport IBA 21873635
GO:0015858 nucleoside transport IDA 12527552
genes like me logo Genes that share ontologies with SLC29A2: view

No data available for SIGNOR curated interactions for SLC29A2 Gene

Drugs & Compounds for SLC29A2 Gene

(20) Drugs for SLC29A2 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 3544
Dipyridamole Approved Pharma Adenosine transport inhibitor 97
Adenosine Approved, Investigational Pharma Transporter, substrate 664
Azathioprine Approved Pharma Transporter, substrate 237
Didanosine Approved Pharma Transporter 151

(6) Additional Compounds for SLC29A2 Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>14</sup>C]adenosine
8MDP
29491-75-6

(4) Tocris Compounds for SLC29A2 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

(3) ApexBio Compounds for SLC29A2 Gene

Compound Action Cas Number
Decynium 22 977-96-8
Dilazep dihydrochloride 20153-98-4
NBMPR 38048-32-7
genes like me logo Genes that share compounds with SLC29A2: view

Drug products for research

Transcripts for SLC29A2 Gene

mRNA/cDNA for SLC29A2 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC29A2

Alternative Splicing Database (ASD) splice patterns (SP) for SLC29A2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e · 3f · 3g · 3h ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - - -
SP12: - - -
SP13: - - - - -
SP14: - -
SP15: -
SP16:
SP17: -
SP18:

ExUns: 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17
SP1: - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - -
SP6: - - -
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - - - - - -

Relevant External Links for SLC29A2 Gene

GeneLoc Exon Structure for
SLC29A2

Expression for SLC29A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC29A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC29A2 Gene

This gene is overexpressed in Muscle - Skeletal (x12.7).

Protein differential expression in normal tissues from HIPED for SLC29A2 Gene

This gene is overexpressed in Fetal Liver (36.3) and Retina (32.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC29A2 Gene



Protein tissue co-expression partners for SLC29A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC29A2

SOURCE GeneReport for Unigene cluster for SLC29A2 Gene:

Hs.569017

mRNA Expression by UniProt/SwissProt for SLC29A2 Gene:

Q14542-S29A2_HUMAN
Tissue specificity: Expressed in skeletal muscle, liver, lung, placenta, brain, heart, kidney and ovarian tissues.

Evidence on tissue expression from TISSUES for SLC29A2 Gene

  • Heart(4.5)
  • Liver(4.4)
  • Muscle(2.9)
  • Nervous system(2.4)
  • Intestine(2.3)
  • Skin(2)
genes like me logo Genes that share expression patterns with SLC29A2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC29A2 Gene

Orthologs for SLC29A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC29A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC29A2 29 30
  • 99.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC29A2 29 30
  • 90.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC29A2 29 30
  • 90.11 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc29a2 29 16 30
  • 87.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC29A2 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC29A2 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc29a2 29
  • 63.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc29a2 29 30
  • 57.11 (n)
OneToMany
SLC29A2 (2 of 2) 30
  • 56 (a)
OneToMany
zgc63618 29
Fruit Fly
(Drosophila melanogaster)
Insecta Ent1 30
  • 30 (a)
OneToMany
BEST:LD04971 31
  • 29 (a)
Worm
(Caenorhabditis elegans)
Secernentea ent-6 30
  • 23 (a)
ManyToMany
ent-5 30
  • 23 (a)
ManyToMany
ent-4 30
  • 23 (a)
ManyToMany
ent-3 30
  • 15 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 34 (a)
OneToMany
Species where no ortholog for SLC29A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC29A2 Gene

ENSEMBL:
Gene Tree for SLC29A2 (if available)
TreeFam:
Gene Tree for SLC29A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC29A2: view image
Alliance of Genome Resources:
Additional Orthologs for SLC29A2

Paralogs for SLC29A2 Gene

Paralogs for SLC29A2 Gene

(2) SIMAP similar genes for SLC29A2 Gene using alignment to 2 proteins:

  • S29A2_HUMAN
  • G5E943_HUMAN
genes like me logo Genes that share paralogs with SLC29A2: view

Variants for SLC29A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC29A2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs8187643 -- p.Asp5Tyr
rs8187644 -- p.Asn68Lys
rs8187648 -- p.Pro94Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC29A2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC29A2 Gene

Variant ID Type Subtype PubMed ID
esv3626693 CNV loss 21293372
nsv832193 CNV loss 17160897

Variation tolerance for SLC29A2 Gene

Residual Variation Intolerance Score: 36.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC29A2 Gene

Human Gene Mutation Database (HGMD)
SLC29A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC29A2
Leiden Open Variation Database (LOVD)
SLC29A2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC29A2 Gene

Disorders for SLC29A2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC29A2 Gene - From: COP

Disorder Aliases PubMed IDs
hepatic adenomas, familial
  • liver cell adenomas, familial
histiocytosis-lymphadenopathy plus syndrome
  • histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness
leukemia, chronic lymphocytic
  • cll
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC29A2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC29A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC29A2 Gene

Publications for SLC29A2 Gene

  1. Cloning of the human equilibrative, nitrobenzylmercaptopurine riboside (NBMPR)-insensitive nucleoside transporter ei by functional expression in a transport-deficient cell line. (PMID: 9478986) Crawford CR … Belt JA (The Journal of biological chemistry 1998) 2 3 4 22
  2. Functional characterization and haplotype analysis of polymorphisms in the human equilibrative nucleoside transporter, ENT2. (PMID: 16214850) Owen RP … Giacomini KM (Drug metabolism and disposition: the biological fate of chemicals 2006) 3 4 22
  3. Functional analysis of site-directed glycosylation mutants of the human equilibrative nucleoside transporter-2. (PMID: 12590919) Ward JL … Tse CM (Archives of biochemistry and biophysics 2003) 3 4 22
  4. A mammalian delayed-early response gene encodes HNP36, a novel, conserved nucleolar protein. (PMID: 7639753) Williams JB … Lanahan AA (Biochemical and biophysical research communications 1995) 3 4 22
  5. Contribution of adenosine related genes to the risk of depression with disturbed sleep. (PMID: 20392501) Gass N … Paunio T (Journal of affective disorders 2010) 3 40

Products for SLC29A2 Gene

Sources for SLC29A2 Gene