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

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: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (66362521..66372446, complement)
RS_2023_10	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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deletion of equilibrative nucleoside transporter 2 disturbs energy metabolism and exacerbates disease progression in an experimental model of Huntington's disease.
Title: Deletion of equilibrative nucleoside transporter 2 disturbs energy metabolism and exacerbates disease progression in an experimental model of Huntington's disease.
Exosomes secreted from cancer-associated fibroblasts elicit anti-pyrimidine drug resistance through modulation of its transporter in malignant lymphoma.
Title: Exosomes secreted from cancer-associated fibroblasts elicit anti-pyrimidine drug resistance through modulation of its transporter in malignant lymphoma.
Remdesivir and EIDD-1931 Interact with Human Equilibrative Nucleoside Transporters 1 and 2: Implications for Reaching SARS-CoV-2 Viral Sanctuary Sites.
Title: Remdesivir and EIDD-1931 Interact with Human Equilibrative Nucleoside Transporters 1 and 2: Implications for Reaching SARS-CoV-2 Viral Sanctuary Sites.
Hypoxia did not change expression of either hENT1, hENT2, or TK1.
Title: Effect of hypoxia on human equilibrative nucleoside transporters hENT1 and hENT2 in breast cancer.
two novel functional splice variants of equilibrative nucleoside transporter 2 (ENT2), which are present at the nuclear envelope, were identified.
Title: Novel nuclear hENT2 isoforms regulate cell cycle progression via controlling nucleoside transport and nuclear reservoir.
Results showed that both SLC29A1 and SLC29A2 were expressed at lower levels in colon cancer cell lines originating from metastatic sites than from primary sites.
Title: Differential expression of hENT1 and hENT2 in colon cancer cell lines.
Direct evidence for apical localization of ENT1 and integral expression of ENT2 in intestinal epithelial cells.
Title: Localization and Expression of Nucleoside Transporters ENT1 and ENT2 in Polar Cells of Intestinal Epithelium.
these findings reveal the transcriptional repression of ENT1,2 as an innate protective response during acute pulmonary inflammation.
Title: Repression of the equilibrative nucleoside transporters dampens inflammatory lung injury.
Data suggest that SLC29A2 is localized to apical membrane of adult Sertoli cells. In contrast, SLC29A1 is located on basolateral membrane of Sertoli cells; SLC29A1 is primarily responsible for basolateral nucleoside uptake into Sertoli cells.
Title: Basolateral uptake of nucleosides by Sertoli cells is mediated primarily by equilibrative nucleoside transporter 1.
Data show that ENT1, ENT2, ENT4 and CNT3 protein was detected on ovarian carcinoma cells in all effusions, with expression observed in 1-95% of tumor cells.
Title: Nucleoside transporters are widely expressed in ovarian carcinoma effusions.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79174 (e-PCR)
- UniSTS:40047

NoName (e-PCR)
- UniSTS:483220

STS-X86681 (e-PCR)
- UniSTS:54679

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables adenine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables cytidine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables guanine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables neurotransmitter transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables neurotransmitter transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables nucleobase transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleoside transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleoside transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleoside transmembrane transporter activity	TAS Traceable Author Statement more info
enables purine nucleoside transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables purine nucleoside transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables uracil transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables uridine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

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

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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)

NM_001300868.2 → NP_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:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)
NM_001300869.2 → NP_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:18 → 245

Nucleoside_tran; Nucleoside transporter
NM_001532.3 → NP_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:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)

RNA

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

66362521..66372446 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017017632.2 → XP_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:18 → 456

2a57; Equilibrative Nucleoside Transporter (ENT)
XM_047426862.1 → XP_047282818.1 equilibrative nucleoside transporter 2 isoform X2

UniProtKB/Swiss-Prot

B3KPY7, G5E943, O43530, Q14542, Q52M84, Q96R00, Q9UPE0
XM_047426863.1 → XP_047282819.1 equilibrative nucleoside transporter 2 isoform X3
XM_047426860.1 → XP_047282816.1 equilibrative nucleoside transporter 2 isoform X1
XM_047426861.1 → XP_047282817.1 equilibrative nucleoside transporter 2 isoform X1
XM_047426864.1 → XP_047282820.1 equilibrative nucleoside transporter 2 isoform X4

Related

ENSP00000444870.1, ENST00000540386.5

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

66356181..66366110 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B3KPY7, G5E943, O43530, Q14542, Q52M84, Q96R00, Q9UPE0
XM_054368606.1 → XP_054224581.1 equilibrative nucleoside transporter 2 isoform X2

UniProtKB/Swiss-Prot

B3KPY7, G5E943, O43530, Q14542, Q52M84, Q96R00, Q9UPE0
XM_054368608.1 → XP_054224583.1 equilibrative nucleoside transporter 2 isoform X3
XM_054368604.1 → XP_054224579.1 equilibrative nucleoside transporter 2 isoform X1
XM_054368605.1 → XP_054224580.1 equilibrative nucleoside transporter 2 isoform X1
XM_054368609.1 → XP_054224584.1 equilibrative nucleoside transporter 2 isoform X4