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    SLC29A2 solute carrier family 29 member 2 [ Homo sapiens (human) ]

    Gene ID: 3177, updated on 3-Dec-2024

    Summary

    Official Symbol
    SLC29A2provided by HGNC
    Official Full Name
    solute carrier family 29 member 2provided by HGNC
    Primary source
    HGNC:HGNC:11004
    See related
    Ensembl:ENSG00000174669 MIM:602110; AllianceGenome:HGNC:11004
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ENT2; DER12; HNP36; hENT2
    Summary
    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]
    Expression
    Ubiquitous expression in duodenum (RPKM 6.4), small intestine (RPKM 4.5) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC29A2 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66362521..66372446, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66356181..66366110, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66129992..66139917, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66112315-66112865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66115760-66116260 Neighboring gene beta-1,4-glucuronyltransferase 1 Neighboring gene tRNA-Ser (anticodon GCT) 3-1 Neighboring gene B4GAT1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66150024-66150524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66150525-66151025 Neighboring gene Sharpr-MPRA regulatory region 15247 Neighboring gene bromodomain containing 9 pseudogene 1 Neighboring gene RNA, U1 small nuclear 84, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC29A2 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adenine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adenine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenosine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenosine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytidine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in guanine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in guanine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hypoxanthine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hypoxanthine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inosine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurotransmitter transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurotransmitter uptake ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nucleobase transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleoside transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleoside transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in purine nucleobase transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in purine nucleoside transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in purine nucleoside transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pyrimidine-containing compound transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thymine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in thymine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in uracil transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in uridine transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in uridine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    equilibrative nucleoside transporter 2
    Names
    36 kDa nucleolar protein HNP36
    delayed-early response protein 12
    equilibrative NBMPR-insensitive nucleoside transporter
    equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter
    hydrophobic nucleolar protein, 36 kDa
    hydrophobic nucleolar protein, 36kD
    nucleoside transporter, ei-type
    solute carrier family 29 (equilibrative nucleoside transporter), member 2
    solute carrier family 29 (nucleoside transporters), member 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001300868.2NP_001287797.1  equilibrative nucleoside transporter 2 isoform a

      See identical proteins and their annotated locations for NP_001287797.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AP001107
      Consensus CDS
      CCDS8137.1
      UniProtKB/Swiss-Prot
      B3KPY7, G5E943, O43530, Q14542, Q52M84, Q96R00, Q9UPE0
      Related
      ENSP00000439456.1, ENST00000544554.5
      Conserved Domains (1) summary
      TIGR00939
      Location:18456
      2a57; Equilibrative Nucleoside Transporter (ENT)
    2. NM_001300869.2NP_001287798.1  equilibrative nucleoside transporter 2 isoform b

      See identical proteins and their annotated locations for NP_001287798.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AP001107
      Consensus CDS
      CCDS73326.1
      UniProtKB/TrEMBL
      Q96FB2
      Related
      ENSP00000311250.7, ENST00000311161.11
      Conserved Domains (1) summary
      cl15430
      Location:18245
      Nucleoside_tran; Nucleoside transporter
    3. NM_001532.3NP_001523.2  equilibrative nucleoside transporter 2 isoform a

      See identical proteins and their annotated locations for NP_001523.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AP001107
      Consensus CDS
      CCDS8137.1
      UniProtKB/Swiss-Prot
      B3KPY7, G5E943, O43530, Q14542, Q52M84, Q96R00, Q9UPE0
      Related
      ENSP00000350024.2, ENST00000357440.7
      Conserved Domains (1) summary
      TIGR00939
      Location:18456
      2a57; Equilibrative Nucleoside Transporter (ENT)

    RNA

    1. NR_125343.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' end and uses an alternate splice junction at the 5' end of an internal exon. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP001107
      Related
      ENST00000541567.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66362521..66372446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017632.2XP_016873121.1  equilibrative nucleoside transporter 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KPY7, G5E943, O43530, Q14542, Q52M84, Q96R00, Q9UPE0
      Related
      ENSP00000440329.1, ENST00000546034.1
      Conserved Domains (1) summary
      TIGR00939
      Location:18456
      2a57; Equilibrative Nucleoside Transporter (ENT)
    2. XM_047426862.1XP_047282818.1  equilibrative nucleoside transporter 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KPY7, G5E943, O43530, Q14542, Q52M84, Q96R00, Q9UPE0
    3. XM_047426863.1XP_047282819.1  equilibrative nucleoside transporter 2 isoform X3

      UniProtKB/TrEMBL
      Q96FB2
    4. XM_047426860.1XP_047282816.1  equilibrative nucleoside transporter 2 isoform X1

    5. XM_047426861.1XP_047282817.1  equilibrative nucleoside transporter 2 isoform X1

    6. XM_047426864.1XP_047282820.1  equilibrative nucleoside transporter 2 isoform X4

      Related
      ENSP00000444870.1, ENST00000540386.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66356181..66366110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368607.1XP_054224582.1  equilibrative nucleoside transporter 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KPY7, G5E943, O43530, Q14542, Q52M84, Q96R00, Q9UPE0
    2. XM_054368606.1XP_054224581.1  equilibrative nucleoside transporter 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KPY7, G5E943, O43530, Q14542, Q52M84, Q96R00, Q9UPE0
    3. XM_054368608.1XP_054224583.1  equilibrative nucleoside transporter 2 isoform X3

      UniProtKB/TrEMBL
      Q96FB2
    4. XM_054368604.1XP_054224579.1  equilibrative nucleoside transporter 2 isoform X1

    5. XM_054368605.1XP_054224580.1  equilibrative nucleoside transporter 2 isoform X1

    6. XM_054368609.1XP_054224584.1  equilibrative nucleoside transporter 2 isoform X4