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Aliases for SLC23A2 Gene

Aliases for SLC23A2 Gene

  • Solute Carrier Family 23 Member 2 2 3 3 5
  • Solute Carrier Family 23 (Ascorbic Acid Transporter), Member 2 2 3
  • Solute Carrier Family 23 (Nucleobase Transporters), Member 1 2 3
  • Nucleobase Transporter-Like 1 Protein 3 4
  • Na(+)/L-Ascorbic Acid Transporter 2 3 4
  • Yolk Sac Permease-Like Molecule 2 3 4
  • SLC23A1 3 4
  • NBTL1 3 4
  • SVCT2 3 4
  • YSPL2 3 4
  • Solute Carrier Family 23 (Nucleobase Transporters), Member 2 3
  • Sodium-Dependent Vitamin C Transporter-2 3
  • Sodium-Dependent Vitamin C Transporter 2 4
  • Testicular Secretory Protein Li 48 3
  • KIAA0238 4
  • HSVCT2 4

External Ids for SLC23A2 Gene

Previous HGNC Symbols for SLC23A2 Gene

  • SLC23A1

Previous GeneCards Identifiers for SLC23A2 Gene

  • GC05U990085
  • GC20M004783
  • GC20M004832
  • GC20M004828

Summaries for SLC23A2 Gene

Entrez Gene Summary for SLC23A2 Gene

  • 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]

GeneCards Summary for SLC23A2 Gene

SLC23A2 (Solute Carrier Family 23 Member 2) is a Protein Coding gene. Diseases associated with SLC23A2 include Hypoascorbemia. Among its related pathways are Metabolism and PAK Pathway. Gene Ontology (GO) annotations related to this gene include transporter activity and sodium-dependent multivitamin transmembrane transporter activity. An important paralog of this gene is SLC23A1.

UniProtKB/Swiss-Prot for SLC23A2 Gene

  • Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate.

Gene Wiki entry for SLC23A2 Gene

Additional gene information for SLC23A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC23A2 Gene

Genomics for SLC23A2 Gene

GeneHancer (GH) Regulatory Elements for SLC23A2 Gene

Promoters and enhancers for SLC23A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J004998 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 655.7 +10.2 10154 4.3 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A ZNF48 YY1 GLIS2 ZNF143 SLC23A2 TMEM230 PRNT LOC100421361 PRNP GC20M004944
GH20J004949 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 651.7 +59.4 59355 2.4 HDGF RAD21 YY1 ZNF614 HSF1 FOS RUNX3 ZNF654 CBFB CEBPB SLC23A2 MCM8 LOC100421361 PRNT RASSF2 ENSG00000252096 PRNP PRND LINC00658 GC20M004944
GH20J005010 Promoter/Enhancer 1.2 EPDnew Ensembl 650.7 -0.1 -70 0.5 DRAP1 SOX13 CTCF FOXA2 ARID4B RAD21 GATA3 GATAD1 POLR2A HOMEZ SLC23A2 TMEM230 PRNT LOC100421361 RPS21P7
GH20J005008 Enhancer 0.7 Ensembl ENCODE 650.7 +1.4 1442 1.3 ZNF282 CEBPA CEBPB PRDM10 CEBPG WT1 THRB SLC23A2 TMEM230 PRNT LOC100421361 GC20M004944
GH20J005009 Enhancer 0.2 ENCODE 650.7 +0.7 733 0 SLC23A2 TMEM230 PRNT LOC100421361 GC20M004944
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC23A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC23A2 gene promoter:

Genomic Locations for SLC23A2 Gene

Genomic Locations for SLC23A2 Gene
chr20:4,852,356-5,010,293
(GRCh38/hg38)
Size:
157,938 bases
Orientation:
Minus strand
chr20:4,833,002-4,990,939
(GRCh37/hg19)

Genomic View for SLC23A2 Gene

Genes around SLC23A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC23A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC23A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC23A2 Gene

Proteins for SLC23A2 Gene

  • Protein details for SLC23A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGH3-S23A2_HUMAN
    Recommended name:
    Solute carrier family 23 member 2
    Protein Accession:
    Q9UGH3
    Secondary Accessions:
    • B4DJZ1
    • Q8WWR4
    • Q92512
    • Q96D54
    • Q9UNU1
    • Q9UP85

    Protein attributes for SLC23A2 Gene

    Size:
    650 amino acids
    Molecular mass:
    70337 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA13244.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC23A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC23A2 Gene

Post-translational modifications for SLC23A2 Gene

Other Protein References for SLC23A2 Gene

No data available for DME Specific Peptides for SLC23A2 Gene

Domains & Families for SLC23A2 Gene

Gene Families for SLC23A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC23A2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UGH3

UniProtKB/Swiss-Prot:

S23A2_HUMAN :
  • Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily.
Family:
  • Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily.
genes like me logo Genes that share domains with SLC23A2: view

Function for SLC23A2 Gene

Molecular function for SLC23A2 Gene

UniProtKB/Swiss-Prot Function:
Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate.
GENATLAS Biochemistry:
solute carrier family 23,member 2 (nucleobase transport),mainly expressed in kidney,liver,intestine

Phenotypes From GWAS Catalog for SLC23A2 Gene

Gene Ontology (GO) - Molecular Function for SLC23A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008520 L-ascorbate:sodium symporter activity IEA --
GO:0015205 nucleobase transmembrane transporter activity TAS 9804989
GO:0015229 L-ascorbic acid transmembrane transporter activity TAS --
GO:0015293 symporter activity IEA --
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC23A2: view
genes like me logo Genes that share phenotypes with SLC23A2: view

Animal Models for SLC23A2 Gene

MGI Knock Outs for SLC23A2:

Animal Model Products

miRNA for SLC23A2 Gene

miRTarBase miRNAs that target SLC23A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC23A2 Gene

Localization for SLC23A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC23A2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC23A2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC23A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IEA --
GO:0009925 basal plasma membrane IEA --
GO:0016020 membrane TAS,IEA 9804989
genes like me logo Genes that share ontologies with SLC23A2: view

Pathways & Interactions for SLC23A2 Gene

genes like me logo Genes that share pathways with SLC23A2: view

Pathways by source for SLC23A2 Gene

Interacting Proteins for SLC23A2 Gene

Gene Ontology (GO) - Biological Process for SLC23A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 9804989
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006979 response to oxidative stress IEA --
GO:0015851 nucleobase transport TAS 9804989
genes like me logo Genes that share ontologies with SLC23A2: view

No data available for SIGNOR curated interactions for SLC23A2 Gene

Drugs & Compounds for SLC23A2 Gene

(4) Drugs for SLC23A2 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra 581,581
[<sup>14</sup>C]ascorbic acid Pharma 0

(2) Additional Compounds for SLC23A2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC23A2: view

Transcripts for SLC23A2 Gene

mRNA/cDNA for SLC23A2 Gene

Unigene Clusters for SLC23A2 Gene

Solute carrier family 23 (nucleobase transporters), member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC23A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5:
SP6:

Relevant External Links for SLC23A2 Gene

GeneLoc Exon Structure for
SLC23A2
ECgene alternative splicing isoforms for
SLC23A2

Expression for SLC23A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC23A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC23A2 Gene

This gene is overexpressed in Adrenal Gland (x4.0).

Protein differential expression in normal tissues from HIPED for SLC23A2 Gene

This gene is overexpressed in CD8 Tcells (56.7) and Placenta (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC23A2 Gene



Protein tissue co-expression partners for SLC23A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC23A2 Gene:

SLC23A2

SOURCE GeneReport for Unigene cluster for SLC23A2 Gene:

Hs.516866

mRNA Expression by UniProt/SwissProt for SLC23A2 Gene:

Q9UGH3-S23A2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SLC23A2 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Skin(4.2)
  • Eye(3.3)
  • Adrenal gland(2.3)
  • Liver(2.3)
genes like me logo Genes that share expression patterns with SLC23A2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC23A2 Gene

Orthologs for SLC23A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC23A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC23A2 34 33
  • 99.23 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC23A2 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC23A2 34 33
  • 91.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC23A2 34 33
  • 90.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc23a2 16 34 33
  • 88.15 (n)
rat
(Rattus norvegicus)
Mammalia Slc23a2 33
  • 87.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC23A2 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SVCT2 34
  • 92 (a)
OneToOne
SLC23A2 33
  • 79.84 (n)
lizard
(Anolis carolinensis)
Reptilia SLC23A2 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc23a2 33
  • 76.95 (n)
Str.12033 33
zebrafish
(Danio rerio)
Actinopterygii slc23a2 33
  • 70.7 (n)
si:dkey-106n21.1 34
  • 47 (a)
ManyToMany
Dr.26244 33
fruit fly
(Drosophila melanogaster)
Insecta CG6293 34 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C51E3.6 35
  • 34 (a)
T07G12.4 35
  • 32 (a)
T07G12.2 35
  • 32 (a)
T07G12.5 35
  • 31 (a)
Y59E9AL.4 35
  • 31 (a)
R11E3.2 35
  • 30 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G49990 33
  • 47.03 (n)
rice
(Oryza sativa)
Liliopsida Os02g0741800 33
  • 47.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
Cin.1254 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1254 33
Species where no ortholog for SLC23A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC23A2 Gene

ENSEMBL:
Gene Tree for SLC23A2 (if available)
TreeFam:
Gene Tree for SLC23A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC23A2: view image

Paralogs for SLC23A2 Gene

Paralogs for SLC23A2 Gene

(3) SIMAP similar genes for SLC23A2 Gene using alignment to 5 proteins:

  • S23A2_HUMAN
  • B4DJZ1_HUMAN
  • D3DVZ8_HUMAN
  • H0Y544_HUMAN
  • Q4ZGM1_HUMAN
genes like me logo Genes that share paralogs with SLC23A2: view

Variants for SLC23A2 Gene

Sequence variations from dbSNP and Humsavar for SLC23A2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000023913 -- 4,862,593(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000068031 -- 5,006,535(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000082995 -- 4,910,595(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000084792 -- 4,981,923(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000101431 -- 4,895,313(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC23A2 Gene

Variant ID Type Subtype PubMed ID
dgv4240n100 CNV loss 25217958
esv2722132 CNV deletion 23290073
esv2762058 CNV loss 21179565
esv3645074 CNV gain 21293372
esv3645084 CNV loss 21293372
esv3645085 CNV loss 21293372
nsv1055820 CNV gain 25217958
nsv1066860 CNV gain 25217958
nsv1118906 CNV deletion 24896259
nsv179361 CNV deletion 16902084
nsv428375 CNV loss 18775914
nsv520095 CNV loss 19592680
nsv522948 CNV loss 19592680
nsv833902 CNV loss 17160897

Variation tolerance for SLC23A2 Gene

Residual Variation Intolerance Score: 9.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC23A2 Gene

Human Gene Mutation Database (HGMD)
SLC23A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC23A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC23A2 Gene

Disorders for SLC23A2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC23A2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
hypoascorbemia
  • scurvy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC23A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC23A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC23A2 Gene

Publications for SLC23A2 Gene

  1. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PMID: 18636124) Skibola CF … Smith MT (PloS one 2008) 3 22 44 58
  2. Genetic variation in the sodium-dependent vitamin C transporters, SLC23A1, and SLC23A2 and risk for preterm delivery. (PMID: 16357110) Erichsen HC … Chanock SJ (American journal of epidemiology 2006) 3 22 44 58
  3. Human placental sodium-dependent vitamin C transporter (SVCT2): molecular cloning and transport function. (PMID: 10471399) Rajan DP … Prasad PD (Biochemical and biophysical research communications 1999) 3 4 22 58
  4. A human nucleobase transporter-like cDNA (SLC23A1): member of a transporter family conserved from bacteria to mammals. (PMID: 10395795) Hogue DL … Ling V (Genomics 1999) 3 4 22 58
  5. Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2. (PMID: 10556521) Daruwala R … Levine M (FEBS letters 1999) 3 4 22 58

Products for SLC23A2 Gene

Sources for SLC23A2 Gene

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