UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SVCT2
HGNC Symbol:SLC23A2
HGNC Description:solute carrier family 23 (ascorbic acid transporter), member 2
HGNC ID:10973
Superfamily:SLC
Chromosome:Chr.20(-): 4833002-4990939 GRCh37
Location:20p13
OMIM:603791
OMIM Phenotype:None
Accessions:NM_005116
Nucleotide RefSeq:NM_005116
Protein RefSeq:NP_005107
Entrez:9962
Ensembl:ENSG00000089057
Isoforms:6
Evidence:Substrate In Vitro Evidence: When expressed in X. laevis oocytes (Daruwala R, Song J, Koh WS, Rumsey SC, Levine M. Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2. FEBS Lett 460:480-484, 1999) or HRPE cells (Rajan DP, Huang W, Dutta B, Devoe LD, Leibach FH, Ganapathy V, Prasad PD. Human placental sodium-dependent vitamin C transporter (SVCT2): molecular cloning and transport function. Biochem Biophys Res Commun 262:762-768, 1999), SVCT2 was shown to be a very specific transporter of L-ascorbic acid (vitamin C). Substrate In Vivo Evidence: A targeted knockout of the Slc23a2 gene in mice produces a very severe phenotype consisting of respiratory failure and brain hemorrhaging leading to death within minutes of birth (Sotiriou S, Gispert S, Cheng J, Wang Y, Chen A, Hoogstraten-Miller S, Miller GF, Kwon O, Levine M, Guttentag SH, Nussbaum RL. Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. Nat Med 8:514-517, 2002). The phenotype is presumed to be related to the reduced vitamin C levels observed in tissues normally expressing SVCT2; however, the early death of these mice precludes the ability to explore the role of SVCT2 in specific tissues. Tissue Distribution Evidence: Northern blot analysis showed SVCT2 expression in heart, brain, placenta and liver (Rajan DP, Huang W, Dutta B, Devoe LD, Leibach FH, Ganapathy V, Prasad PD. Human placental sodium-dependent vitamin C transporter (SVCT2): molecular cloning and transport function. Biochem Biophys Res Commun 262:762-768, 1999). Another group demonstrated SVCT2 expression in these tissues as well as in kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and peripheral blood leukocytes (Wang Y, Mackenzie B, Tsukaguchi H, Weremowicz S, Morton CC, Hediger MA. Human vitamin C (l-ascorbic acid) transporter SVCT1. Biochem Biophys Res Commun 267:488-494, 2000).
Tissues:Heart, brain, placenta, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocytes
Type:protein-coding
Sets:V
PharmGKB ID:PA35849
HPRD ID:04811
Substrates:L-ascorbic acid
Trivial Names:NBTL1, SVCT2, YSPL2, SLC23A1
Transcripts:NM_005116.5 [Chr.20(-): 4833002-4982145 GRCh37]
NM_203327.1 [Chr.20(-): 4833002-4990939 GRCh37]
XM_005260902.1 [Chr.20(-): 4833003-4982443 GRCh37]
XM_005260903.1 [Chr.20(-): 4833003-4982164 GRCh37]
XM_005260901.1 [Chr.20(-): 4833003-4982152 GRCh37]
XM_005260904.1 [Chr.20(-): 4833003-4883172 GRCh37]
ENST00000338244 [Chr.20(-): 4833002-4982145 GRCh37]
ENST00000379333 [Chr.20(-): 4833002-4990939 GRCh37]
ENST00000423430 [Chr.20(-): 4840013-4880293 GRCh37]
ENST00000424750 [Chr.20(-): 4837237-4982153 GRCh37]
ENST00000468355 [Chr.20(-): 4850234-4990916 GRCh37]
ENST00000496331 [Chr.20(-): 4854523-4866637 GRCh37]
Annotation History:View Events (37)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC23A2.

Variant Data

View all PMT variants for SLC23A2 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.