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SLC23A2 Gene

protein-coding   GIFtS: 60
GCID: GC20M004781

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

(Previous names: solute carrier family 23 (nucleobase transporters), member...)
(Previous symbol: SLC23A1)
  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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011387.9  NC_018931.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC23A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S23A2_HUMAN, Q9UGH3 (See protein sequence)
Recommended Name: Solute carrier family 23 member 2  
Size: 650 amino acids; 70337 Da
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: 

  • Phosphorylated (Probable)1
  • Glycosylation2 at Asn188, Asn196
  • Modification sites at PhosphoSitePlus

  • See SLC23A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000344322   ENSP00000368637   ENSP00000396364   ENSP00000406601  
    Reactome Protein details: Q9UGH3

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    Browse Proteins at Cloud-Clone Corp.

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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: Let us create your new Knockout/Knockin mouse model for SLC23A2
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC23A2 (see all 126):
    hsa-miR-548j hsa-miR-3938 hsa-miR-642a hsa-miR-193a-3p hsa-miR-300 hsa-miR-199a-3p hsa-miR-200a hsa-miR-3653
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S23A2_HUMAN, Q9UGH3: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

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

    SLC23A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC23A2 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    3Metabolism
    Metabolism0.38
    4Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 Reactome Pathway for SLC23A2
        Vitamin C (ascorbate) metabolism



    SLC23A2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC23A2
    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (see all 13):    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    SLC23A2 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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)

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    hsa-miR-548j hsa-miR-3938 hsa-miR-642a hsa-miR-193a-3p hsa-miR-300 hsa-miR-199a-3p hsa-miR-200a hsa-miR-3653
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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 

    Selected AceView cDNA sequences (see all 234):

    D87075 BQ679886 BI063237 AJ269478 AI493295 BQ214524 R63737 BC073895 
    AI804060 BQ433111 AA347858 CD672466 BE728586 BM709956 BQ899222 BM695931 
    BE047928 AA323374 AI095660 CD107343 AI056144 AK025668 BU188241 AI056441 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC23A2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
             Choroid Plexus
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    SLC23A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC23A2 Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC23A2 gene from Selected 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
    solute carrier family 23 (ascorbic acid transporte...
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62933 L-ascorbate:sodium symporter 43(a)   86A7   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G499901 AT5G49990 47.03(n)
    37.25(a)
      835063  NM_124378.5  NP_199810.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g07418001 Os02g0741800 47.73(n)
    37.32(a)
      4330689  NM_001054619.1  NP_001048084.1 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC23A2 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC23A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC23A2

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

    17 diseases for SLC23A2:    
    About MalaCards
    cholestasis    choriocarcinoma    glaucoma    lung cancer susceptibility
    cystic fibrosis    choroiditis    liver disease    type 1 diabetes
    pneumonia    adenoma    esophagitis    neuroblastoma
    adenocarcinoma    lung cancer    endotheliitis    hepatitis
    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)
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    PubMed articles for SLC23A2 gene, integrated from 10 sources (see all 93):
    (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. (Biochim. Biophys. Acta 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. (Biochem. Biophys. Res. Commun. 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. (Am. J. Epidemiol. 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. (FEBS Lett. 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. (Genomics 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. (PLoS ONE 2008)
    7. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    8. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 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. (Mol. Med. 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. (Eur. J. Cancer 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 9962 HGNC: 10973 AceView: SLC23A2 Ensembl:ENSG00000089057 euGenes: HUgn9962
    ECgene: SLC23A2 H-InvDB: SLC23A2

    (According to HUGE)
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    HUGE: KIAA0238

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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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