SLC28A2 solute carrier family 28 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC28A2provided by HGNC
Official Full Name: solute carrier family 28 member 2provided by HGNC
Primary source: HGNC:HGNC:11002
See related: Ensembl:ENSG00000137860 MIM:606208; AllianceGenome:HGNC:11002
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: CNT2; HCNT2; SPNT1; HsT17153
Summary: Enables neurotransmitter transmembrane transporter activity and nucleoside transmembrane transporter activity. Involved in neurotransmitter transport; nucleoside transport; and purine nucleobase transmembrane transport. Located in apicolateral plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in small intestine (RPKM 43.4), duodenum (RPKM 31.3) and 4 other tissues See more
Orthologs: all
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Genomic context

Location:: 15q21.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (45252234..45277846)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (43060158..43086086)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (45544432..45570044)

Chromosome 15 - NC_000015.10 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 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?

Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters.
Title: Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters.
significant association of intron variants in the SLC28A2 gene with both serum uric acid level and hyperuricemia phenotype, and another exonic variant with gout in Han Chinese
Title: Common variants in the SLC28A2 gene are associated with serum uric acid level and hyperuricemia and gout in Han Chinese.
results that validate the newly developed structural homology model of CNT membrane architecture for human CNTs, revealed extended conformationally mobile regions within transport-domain TMs, identified pore-lining residues of functional importance, and provided evidence of an emerging novel elevator-type mechanism of transporter function.
Title: Substituted cysteine accessibility method (SCAM) analysis of the transport domain of human concentrative nucleoside transporter 3 (hCNT3) and other family members reveals features of structural and functional importance.
association between ribavirin (RBV) serum levels and SLC28A2 rs11854484 genotype, as well as the replicated association of ITPA and SLC28A3 genetic polymorphisms with RBV-induced anemia and treatment response
Title: Impact of genetic SLC28 transporter and ITPA variants on ribavirin serum level, hemoglobin drop and therapeutic response in patients with HCV infection.
genetic association studies in population in Italy: Data suggest that 3 SNPs (SLC28A2 rs11854484; IL28B, rs8099917; CYP27B1, rs4646536) are associated with pharmacokinetics of ribavirin and thus, sustained virologic response in hepatitis C patients.
Title: Negative predictive value of IL28B, SLC28A2, and CYP27B1 SNPs and low RBV plasma exposure for therapeutic response to PEG/IFN-RBV treatment.
These findings support the theory that CNT2 plays roles other than salvage and establishes links with energy metabolism.
Title: Link between high-affinity adenosine concentrative nucleoside transporter-2 (CNT2) and energy metabolism in intestinal and liver parenchymal cells.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Clinical trial of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Single nucleotide polymorphisms of gemcitabine metabolic genes and pancreatic cancer survival and drug toxicity.
Single nucleotide polymorphisms of this protein may play a role in variation in the pharmacokinetics and pharmacological effects of nucleoside analogs.
Title: Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2).
Observational study of gene-disease association. (HuGE Navigator)
Title: Contribution of adenosine related genes to the risk of depression with disturbed sleep.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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
Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables azole transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables neurotransmitter transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleoside:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleoside:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleoside:sodium symporter activity	TAS Traceable Author Statement more info
enables purine nucleobase transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables purine nucleoside transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables purine nucleoside transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables pyrimidine- and adenosine-specific:sodium symporter 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 adenosine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in azole transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
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 nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in nucleoside transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleoside transmembrane 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 pyrimidine nucleobase transport	IEA Inferred from Electronic Annotation more info
involved_in pyrimidine-containing compound transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in retina homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in uridine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info
involved_in xenobiotic transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in apicolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in coated vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	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	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sodium/nucleoside cotransporter 2

Names: CNT 2; Na(+)/nucleoside cotransporter 2; SPNT; concentrative nucleoside transporter 2; sodium-coupled nucleoside transporter 2; sodium/purine nucleoside co-transporter; solute carrier family 28 (concentrative nucleoside transporter), member 2; solute carrier family 28 (sodium-coupled nucleoside transporter), 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_004212.4 → NP_004203.2 sodium/nucleoside cotransporter 2

Status: VALIDATED

Source sequence(s)

AC051619, AK222709, AK291974, BC112047

Consensus CDS

CCDS10121.1

UniProtKB/Swiss-Prot

A8K7F9, O43239, O43868, Q52LZ0

UniProtKB/TrEMBL

Q53H72

Related

ENSP00000315006.4, ENST00000347644.8

Conserved Domains (1) summary

TIGR00804
Location:174 → 585

nupC; nucleoside transporter