SLC23A2 solute carrier family 23 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC23A2provided by HGNC
Official Full Name: solute carrier family 23 member 2provided by HGNC
Primary source: HGNC:HGNC:10973
See related: Ensembl:ENSG00000089057 MIM:603791; AllianceGenome:HGNC:10973
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NBTL1; SVCT2; YSPL2; SLC23A1
Summary: The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]
Expression: Broad expression in adrenal (RPKM 40.7), brain (RPKM 20.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (4852358..5010313, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (4891820..5049741, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (4833004..4990959, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Ascorbate and its transporter SVCT2: The dynamic duo's integrated roles in CNS neurobiology and pathophysiology.
Title: Ascorbate and its transporter SVCT2: The dynamic duo's integrated roles in CNS neurobiology and pathophysiology.
Nedd4-1 regulates human sodium-dependent vitamin C transporter-2 functional expression in neuronal and epithelial cells.
Title: Nedd4-1 regulates human sodium-dependent vitamin C transporter-2 functional expression in neuronal and epithelial cells.
SVCT2/SLC23A2 is a sodium-dependent urate transporter: functional properties and practical application.
Title: SVCT2/SLC23A2 is a sodium-dependent urate transporter: functional properties and practical application.
SVCT2-mediated ascorbic acid uptake buffers stress responses via DNA hydroxymethylation reprogramming of S100 calcium-binding protein A4 gene.
Title: SVCT2-mediated ascorbic acid uptake buffers stress responses via DNA hydroxymethylation reprogramming of S100 calcium-binding protein A4 gene.
Impact of SLC23A1 and SLC23A2 Polymorphisms on the Risk for Preeclampsia in a Chinese Han Population.
Title: Impact of SLC23A1 and SLC23A2 Polymorphisms on the Risk for Preeclampsia in a Chinese Han Population.
ATRX-dependent SVCT2 mediates macrophage infiltration in the glioblastoma xenograft model.
Title: ATRX-dependent SVCT2 mediates macrophage infiltration in the glioblastoma xenograft model.
Effects of functional variants of vitamin C transporter genes on apolipoprotein E E4-associated risk of cognitive decline: The Nakajima study.
Title: Effects of functional variants of vitamin C transporter genes on apolipoprotein E E4-associated risk of cognitive decline: The Nakajima study.
Limited Association Between Ascorbate Concentrations and Vitamin C Transporters in Renal Cell Carcinoma Cells and Clinical Samples.
Title: Limited Association Between Ascorbate Concentrations and Vitamin C Transporters in Renal Cell Carcinoma Cells and Clinical Samples.
Calsyntenin-3 interacts with the sodium-dependent vitamin C transporter-2 to regulate vitamin C uptake.
Title: Calsyntenin-3 interacts with the sodium-dependent vitamin C transporter-2 to regulate vitamin C uptake.
New insights into Vitamin C function: Vitamin C induces JAK2 activation through its receptor-like transporter SVCT2.
Title: New insights into Vitamin C function: Vitamin C induces JAK2 activation through its receptor-like transporter SVCT2.

Submit: New GeneRIF Correction See all GeneRIFs (64)

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

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

T03153 (e-PCR)
- UniSTS:80451

Z94315 (e-PCR)
- UniSTS:55937

SHGC-110394 (e-PCR)
- UniSTS:167832

SLC23A2_2187 (e-PCR)
- UniSTS:281011

SHGC-147858 (e-PCR)
- UniSTS:176056

Z94337 (e-PCR)
- UniSTS:4052

RH118444 (e-PCR)
- UniSTS:109271

SHGC-149645 (e-PCR)
- UniSTS:177135

RH47957 (e-PCR)
- UniSTS:61679

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-ascorbate:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-ascorbic acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-ascorbic acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in L-ascorbic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-ascorbic acid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in L-ascorbic acid metabolic process	TAS Traceable Author Statement more info
involved_in L-ascorbic acid transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in blood circulation	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendrite extension	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: solute carrier family 23 member 2

Names: Na(+)/L-ascorbic acid transporter 2; nucleobase transporter-like 1 protein; sodium-dependent vitamin C transporter-2; solute carrier family 23 (ascorbic acid transporter), member 2; solute carrier family 23 (nucleobase transporters), member 1; solute carrier family 23 (nucleobase transporters), member 2; testicular secretory protein Li 48; yolk sac permease-like molecule 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.

Genomic

NG_029959.2 RefSeqGene

Range

13784..162936

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005116.6 → NP_005107.4 solute carrier family 23 member 2

See identical proteins and their annotated locations for NP_005107.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) occurs more frequently. Variants 1 and 2 encode the same isoform.

Source sequence(s)

AI742576, AL121890, BC013112, D87075

Consensus CDS

CCDS13085.1

UniProtKB/Swiss-Prot

B4DJZ1, Q8WWR4, Q92512, Q96D54, Q9UGH3, Q9UNU1, Q9UP85

UniProtKB/TrEMBL

A0A140VK48, A0MSJ5

Related

ENSP00000344322.1, ENST00000338244.6

Conserved Domains (1) summary

pfam00860
Location:103 → 531

Xan_ur_permease; Permease family
NM_203327.2 → NP_976072.1 solute carrier family 23 member 2

See identical proteins and their annotated locations for NP_976072.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.

Source sequence(s)

AF164142, AI742576, AL121890, BC013112, D87075

Consensus CDS

CCDS13085.1

UniProtKB/Swiss-Prot

B4DJZ1, Q8WWR4, Q92512, Q96D54, Q9UGH3, Q9UNU1, Q9UP85

UniProtKB/TrEMBL

A0A140VK48, A0MSJ5

Related

ENSP00000368637.1, ENST00000379333.5

Conserved Domains (1) summary

pfam00860
Location:103 → 531

Xan_ur_permease; Permease family