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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC23A2 Gene

protein-coding   GIFtS: 59
GCID: GC20M004781

Solute Carrier Family 23 (Ascorbic Acid Transporter), Member...

(Previous names: solute carrier family 23 (nucleobase transporters), member...)
(Previous symbol: SLC23A1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 23 (Ascorbic Acid Transporter), Member 21 2     hSVCT22 3
SLC23A11 2 3     Na(+)/L-Ascorbic Acid Transporter 22 3
SVCT22 3 5     Sodium-Dependent Vitamin C Transporter-22
Solute Carrier Family 23 (Nucleobase Transporters), Member 11 2     Solute Carrier Family 23 (Nucleobase Transporters), Member 22
Nucleobase Transporter-Like 1 Protein2 3     Solute Carrier Family 23 Member 22
Yolk Sac Permease-Like Molecule 22 3     KIAA02383
NBTL12 3     Sodium-Dependent Vitamin C Transporter 23
YSPL22 3     

External Ids:    HGNC: 109731   Entrez Gene: 99622   Ensembl: ENSG000000890577   OMIM: 6037915   UniProtKB: Q9UGH33   

Export aliases for SLC23A2 gene to outside databases

Previous GC identifers: GC05U990085 GC20M004783 GC20M004832 GC20M004828


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (ascorbic acid transporter), member 2) is a protein-coding gene. Diseases associated with SLC23A2 include cholestasis, and choriocarcinoma, and among its related super-pathways are Metabolism of water-soluble vitamins and cofactors and PAK Pathway. GO annotations related to this gene include nucleobase transmembrane transporter activity and L-ascorbate:sodium symporter activity. An important paralog of this gene is SLC23A1.

UniProtKB/Swiss-Prot: S23A2_HUMAN, Q9UGH3
Function: Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2
Na(+) for each ascorbate

Gene Wiki entry for SLC23A2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC23A2 gene promoter:
         TBP   AhR   PPAR-gamma1   AP-1   ATF-2   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC23A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC23A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC23A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

SLC23A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC23A2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M004781:  view genomic region     (about GC identifiers)

Start:
4,833,002 bp from pter      End:
4,990,939 bp from pter
Size:
157,938 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S23A2_HUMAN, Q9UGH3 (See protein sequence)
Recommended Name: Solute carrier family 23 member 2  
Size: 650 amino acids; 70337 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAA13244.2; Type=Erroneous initiation;
Secondary accessions: Q8WWR4 Q92512 Q96D54 Q9UNU1 Q9UP85

Explore the universe of human proteins at neXtProt for SLC23A2: NX_Q9UGH3

Explore proteomics data for SLC23A2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated (Probable)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UGH3

  • SLC23A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC23A2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005107.4  NP_976072.1  

    ENSEMBL proteins: 
     ENSP00000344322   ENSP00000368637   ENSP00000396364   ENSP00000406601  
    Reactome Protein details: Q9UGH3
    Human Recombinant Protein Products for SLC23A2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0009925basal plasma membrane IEA--
    GO:0016020membrane TAS9804989

    SLC23A2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium-dependent vitamin C transporter 2 
    SLC23 family of ascorbic acid transporters

    2 InterPro protein domains:
     IPR006042 Xan_ur_permease
     IPR006043 Xant/urac/vitC

    Graphical View of Domain Structure for InterPro Entry Q9UGH3

    ProtoNet protein and cluster: Q9UGH3

    1 Blocks protein domain: IPB006042 Xanthine/uracil permease family

    UniProtKB/Swiss-Prot: S23A2_HUMAN, Q9UGH3
    Similarity: Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40)
    subfamily


    SLC23A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S23A2_HUMAN, Q9UGH3
    Function: Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2
    Na(+) for each ascorbate

         Genatlas biochemistry entry for SLC23A2:
    solute carrier family 23,member 2 (nucleobase transport),mainly expressed in kidney,liver,intestine

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0008520L-ascorbate:sodium symporter activity IEA--
    GO:0008523sodium-dependent multivitamin transmembrane transporter activity NAS10471399
    GO:0015205nucleobase transmembrane transporter activity TAS9804989
    GO:0015229L-ascorbic acid transporter activity IDA10631088
         
    SLC23A2 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc23a2):
     cardiovascular system  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  nervous system 
     respiratory system 

    SLC23A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc23a2tm1Nbm for SLC23A2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC23A2 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC23A2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    2PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    3Metabolism
    Metabolism0.40
    4Vitamin C (ascorbate) metabolism
    Vitamin C (ascorbate) metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC23A2
        Antioxidant Action of Vitamin-C

    4        Reactome Pathways for SLC23A2
        Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors
    Vitamin C (ascorbate) metabolism



    SLC23A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC23A2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for SLC23A2 (Q9UGH33 ENSP000003443224) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V1B1P153133I2D: score=1 
    KRTAP4-12Q9BQ663I2D: score=1 
    SLC9A3R1O147453I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    AGPAT2ENSP000003607614STRING: ENSP00000360761
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process TAS9804989
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006810transport ----
    GO:0006979response to oxidative stress IEA--

    SLC23A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC23A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC23A2 (S23A2)

    2 HMDB Compounds for SLC23A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    SodiumSodium (see all 2)7440-23-5--

    1 IUPHAR Ligand for SLC23A2 (Sodium-dependent vitamin C transporter 2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [14C]ascorbic acid
    NoneNone--

    5 Novoseek inferred chemical compound relationships for SLC23A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dehydroascorbic acid 85.9 4 12763044 (1), 16011461 (1), 12381735 (1)
    ascorbic acid 83.7 128 10471399 (4), 17664139 (4), 15921655 (3), 18619416 (3) (see all 43)
    sodium 15.2 5 15921655 (1), 12381735 (1), 14993613 (1), 19125272 (1)
    adenylate 10.1 2 15590689 (1), 11584081 (1)
    calcium 0 2 12788230 (2)

    Search CenterWatch for drugs/clinical trials and news about SLC23A2 / S23A2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC23A2 gene (2 alternative transcripts): 
    NM_005116.5  NM_203327.1  

    Unigene Cluster for SLC23A2:

    Solute carrier family 23 (nucleobase transporters), member 2
    Hs.516866  [show with all ESTs]
    Unigene Representative Sequence: NM_203327
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338244(uc002wlg.1 uc010zqr.1) ENST00000379333(uc002wlh.1)
    ENST00000423430 ENST00000468355(uc002wli.3) ENST00000496331 ENST00000424750(uc002wlj.1)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB075494.1 AF058319.1 AF092511.1 AF164142.1 AJ269478.1 AJ292318.1 AK025668.1 AK296304.1 
    AK297253.1 AY380556.1 BC013112.2 BC073895.1 D87075.2 DQ011866.1 EF032501.1 

    17 DOTS entries:

    DT.87016611  DT.100000350  DT.100722970  DT.95163565  DT.92437958  DT.92437953  DT.120809847  DT.95163567 
    DT.100817059  DT.40117140  DT.91987360  DT.100657065  DT.100817060  DT.100026927  DT.75151236  DT.95163566 
    DT.95285947 

    24/234 AceView cDNA sequences (see all 234):

    BM973710 BQ433111 AI804060 AI916298 CD107343 D87075 AA460499 NM_005116 
    CD672466 CA396546 BQ068884 AF058319 BQ214524 AI095660 AI493295 BU188241 
    BX283621 R63737 AA323329 AK025668 AW140065 BE047928 AA782627 CA394378 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SLC23A2 (see all 6)    About this scheme

    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:                                                                                                                                                      


    ECgene alternative splicing isoforms for SLC23A2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC23A2 expression in normal human tissues (normalized intensities)      SLC23A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTCATTAA
    SLC23A2 Expression
    About this image


    SLC23A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Choroid Plexus
             prefrontal cortex   
     
     Adrenal Gland (Endocrine System)
             Adrenal Cortex   
     
     Blood Brain Barrier (Nervous System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier

    See SLC23A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC23A2

    SOURCE GeneReport for Unigene cluster: Hs.516866

    UniProtKB/Swiss-Prot: S23A2_HUMAN, Q9UGH3
    Tissue specificity: Ubiquitous

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC23A2 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc23a21 , 5 solute carrier family 23 (nucleobase transporters), more1, 5 88.15(n)1
    95.05(a)1
      2 (64.15 cM)5
    543381  NM_018824.21  NP_061294.21 
     1320524965 
    chicken
    (Gallus gallus)
    Aves SLC23A21 solute carrier family 23 (nucleobase transporters), more 79.84(n)
    93.83(a)
      419520  NM_001145227.1  NP_001138699.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC23A26
    Uncharacterized protein
    93(a)
    1 ↔ 1
    GL343968.1(34088-50667)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.120332 Transcribed sequence with moderate similarity to protein more 77.12(n)    137720561 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.262442 Transcribed sequence with moderate similarity to protein more 73.47(n)    CD606111.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C51E3.63 Mouse YSPL-1 protein like 34(a)
    (best of 6)
      V(10166848-10169044)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G380501 nucleobase-ascorbate transporter 11 45.32(n)
    36.62(a)
      829961  NM_119966.4  NP_195518.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g08575001 hypothetical protein 48.1(n)
    40.95(a)
      4324758  NM_001051389.1  NP_001044854.1 


    ENSEMBL Gene Tree for SLC23A2 (if available)
    TreeFam Gene Tree for SLC23A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC23A2 gene
    SLC23A12  SLC23A32  
    3 SIMAP similar genes for SLC23A2 using alignment to 5 protein entries:     S23A2_HUMAN (see all proteins):
    SLC23A1    LOC392993    SLC23A3

    SLC23A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3711 SNPs in SLC23A2 are shown (see all 3711)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs757234731,2
    C,F--4786745(+) CCACAA/CCACCA 2 -- int12Minor allele frequency- C:0.04WA 120
    rs126250781,2
    C,F,H--4786747(+) ACAACA/GCCATT 2 -- int119Minor allele frequency- G:0.14NS EA NA CSA WA 2162
    rs1912739611,2
    --4786820(+) TCACCA/GCAGTC 2 -- int10--------
    rs590681991,2
    C--4786909(+) GCCTAA/GTTTTT 2 -- int10--------
    rs1823787541,2
    --4786910(+) CCTAAA/TTTTTT 2 -- int10--------
    rs1866911431,2
    --4786927(+) AAGGGA/GCGGGG 2 -- int10--------
    rs3714233701,2
    C--4786933(+) CGGGG-/GGGGGG 2 -- int10--------
    rs1896957441,2
    --4786934(+) GGGGCC/GGGGGG 2 -- int10--------
    rs567070551,2
    C--4786941(+) GGGGG-/G/GG  
            
    CGGGT
    2 -- int10--------
    rs60379901,2
    C,F--4786946(+) gcgggT/Attcac 2 -- int13Minor allele frequency- A:0.26WA CSA 122

    HapMap Linkage Disequilibrium report for SLC23A2 (4833002 - 4990939 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SLC23A2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2722132CNV Deletion23290073
    nsv520095CNV Loss19592680
    nsv912630CNV Loss21882294
    nsv522948CNV Loss19592680
    nsv428375CNV Loss18775914
    nsv179361CNV Loss16902084
    nsv833902CNV Loss17160897
    nsv912629CNV Gain21882294
    nsv912628CNV Gain21882294
    nsv912631CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603791    OMIM disorders: --

    16 diseases for SLC23A2:    About MalaCards
    cholestasis    choriocarcinoma    esophageal adenocarcinoma    glaucoma
    cystic fibrosis    pneumonia    liver disease    adenoma
    neuroblastoma    gastric cancer    esophagitis    adenocarcinoma
    lung cancer    hepatitis    endotheliitis    neuronitis


    SLC23A2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC23A2
    Human Genome Epidemiology (HuGE) Navigator: SLC23A2 (16 documents)

    Export disorders for SLC23A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC23A2 gene, integrated from 9 sources (see all 90):
    (articles sorted by number of sources associating them with SLC23A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of two novel transporters from human and mouse kidney and from LLC-PK1 cells reveals a novel conserved family that is homologous to bacterial and Aspergillus nucleobase transporters. (PubMed id 9804989)1, 2, 3 Faaland C.A....Holtzman E.J. (1998)
    2. Human placental sodium-dependent vitamin C transporter (SVCT2): molecular cloning and transport function. (PubMed id 10471399)1, 2, 9 Rajan D.P.... Prasad P.D. (1999)
    3. Genetic variation in the sodium-dependent vitamin C transporters, SLC23A1, and SLC23A2 and risk for preterm delivery. (PubMed id 16357110)1, 4, 9 Erichsen H.C....Chanock S.J. (2006)
    4. Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2. (PubMed id 10556521)1, 2, 9 Daruwala R.C.... Levine M. (1999)
    5. A human nucleobase transporter-like cDNA (SLC23A1): member of a transporter family conserved from bacteria to mammals. (PubMed id 10395795)1, 2, 9 Hogue D.L. and Ling V. (1999)
    6. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PubMed id 18636124)1, 4, 9 Skibola C.F....Smith M.T. (2008)
    7. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    8. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    10. Genetic variation in sodium-dependent ascorbic acid transporters and risk of gastric cancer in Poland. (PubMed id 19243932)1, 4 Wright M.E....Hou L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9962 HGNC: 10973 AceView: SLC23A2 Ensembl:ENSG00000089057 euGenes: HUgn9962
    ECgene: SLC23A2 H-InvDB: SLC23A2

    (According to HUGE)
    About This Section
    HUGE: KIAA0238

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC23A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC23A2 gene:
    Search GeneIP for patents involving SLC23A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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