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

Gene ID: 3177, updated on 12-Aug-2022

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
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
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Genomic context

See SLC29A2 in Genome Data Viewer
Location:
11q13.2
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66362521..66372446, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66356181..66366110, complement)
105.20220307 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 beta-1,4-glucuronyltransferase 1 Neighboring gene tRNA-Ser (anticodon GCT) 3-1 Neighboring gene B4GAT1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 15247 Neighboring gene bromodomain containing 9 pseudogene 1

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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adenine transport IBA
Inferred from Biological aspect of Ancestor
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 cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in guanine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in hypoxanthine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lactation IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter reuptake IMP
Inferred from Mutant Phenotype
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 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 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
PubMed 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in uridine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in uridine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in xenobiotic transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleolus TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in presynapse IEA
Inferred from Electronic Annotation
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)

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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
    Q14542, 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
    G5E943, 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
    Q14542, Q9UPE0
    UniProtKB/TrEMBL
    Q96FB2
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    Q14542, 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
    Q9UPE0
  3. XM_047426863.1XP_047282819.1  equilibrative nucleoside transporter 2 isoform X3

    UniProtKB/TrEMBL
    G5E943
  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)