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

SLC23A2 Gene

protein-coding   GIFtS: 57
GCID: GC20M004781

solute carrier family 23 (nucleobase transporters), member...

(Previous names: solute carrier family 23 (nucleobase transporters), member...)
(Previous symbol: SLC23A1)
 Explore 14 diseases affiliated with
SLC23A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC23A2    

Aliases
for SLC23A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 23 (Nucleobase Transporters), Member 21 2     Yolk Sac Permease-Like Molecule 22 3
SVCT21 2 3 5     NBTL12 3
SLC23A11 2 3     HSVCT21
YSPL21 2 3     Na(+)/L-Ascorbic Acid Transporter 22 3
Solute Carrier Family 23 (Nucleobase Transporters), Member 11 2     Sodium-Dependent Vitamin C Transporter-22
KIAA02381 3     Solute Carrier Family 23 Member 22
Nucleobase Transporter-Like 1 Protein2 3     Sodium-Dependent Vitamin C Transporter 23

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


Summaries
for SLC23A2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
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 plasmid: SLC23A2 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

Proteins
for SLC23A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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: 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

Post-translational modifications:

  • Phosphorylated (Probable)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UGH3

    • SLC23A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000368637   ENSP00000344322   ENSP00000396364   ENSP00000406601  
    Reactome Protein details: Q9UGH3
    Human Recombinant Protein Products: 
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    Novus Biologicals SLC23A2 Protein
    Novus Biologicals SLC23A2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC23A2

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0009925basal plasma membrane IEA--


    SLC23A2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC23A2

    Protein Domains /
    Families
    for SLC23A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC23A2 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: 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


    Function
    for SLC23A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    8/126 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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    In Situ Assay
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    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 IDA19216494


    SLC23A2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Slc23a2tm1Nbm for SLC23A2
         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


    Pathways & Interactions
    for SLC23A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Vitamin B5 (pantothenate) metabolism
    		Metabolism of vitamins and cofactors0.21
    		Metabolism of water-soluble vitamins and cofactors0.21
    2Vitamin C (ascorbate) metabolism
    		Vitamin C (ascorbate) metabolism1.00
    3Metabolism
    		Metabolism1.00
    4PAK Pathway
    		Antioxidant Action of Vitamin-C0.56

    Pathway sources
    See GeneCards unified pathways
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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:0006979response to oxidative stress IEA--
    GO:0015851nucleobase transport TAS9804989


    SLC23A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC23A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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--
    5 Novoseek 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 

    Transcripts
    for SLC23A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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:
    ENST00000379333(uc002wlh.1) ENST00000338244(uc002wlg.1 uc010zqr.1)
    ENST00000423430 ENST00000468355(uc002wli.3) ENST00000496331 ENST00000424750(uc002wlj.1)


    miRNA
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    8/126 QIAGEN miScript miRNA 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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    Inhib. RNA
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    OriGene shRNA RFP: SLC23A2
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    Clone
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    Additional cDNA 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):

    D87075 BU729259 AI804060 CA394378 BQ679886 BU188241 AI056441 CA396546 
    AI493295 AA323374 BM703038 AI056144 AA460499 BC073895 AA347858 CA389030 
    R63737 BM695931 BQ899222 BE728586 BM709956 AI916298 AI095660 CD107343 

    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

    Expression
    for SLC23A2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTTCATTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC23A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierAdult Endothelial CellsBlood Brain Barrier, Endothelium
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    BrainChoroid PlexusBrain
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
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    Orthologs
    for SLC23A2 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for SLC23A2 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 95(a)
    		 1 ↔ 1
    		 GL343968.1(34088-50486)
    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 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 24(a)
    		 possible ortholog
    		 GroupUn.4723(1-651)
    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria uraA6
    ygfU6
    (see all 5)    		 predicted transporter
    (see all 5)    		 24(a)
    24(a)
    (see all 5)    		 possible ortholog
    possible ortholog
    (see all 5)    		 Chromosome(2616893-2618182)
    Chromosome(3029389-3030837)


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

    Paralogs
    for SLC23A2 gene

    (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



    Genomic Variants
    for SLC23A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/3157 NCBI SNPs in SLC23A2 are shown (see all 3157)     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,--4786745(+) CCACAA/CCACCA 2 -- int12Minor allele frequency- C:0.04WA 120
    rs590681991,2
    		--4786909(+) GCCTAA/GTTTTT 2 -- int10--------
    rs60379901,2
    		C,F,--4786946(+) gcgggT/Attcac 2 -- int13Minor allele frequency- A:0.26WA CSA 122
    rs60529341,2
    		C,--4787695(+) AAACAC/GAGTCA 2 -- ut31 ese32Minor allele frequency- G:0.16CSA WA 120
    rs60529351,2
    		C,F,A,H,--4787815(+) TGGCCG/CTTCTT 2 -- ut31 ese312Minor allele frequency- C:0.07NS EA NA WA 970
    rs1145325971,2
    		C,F,--4788069(+) CATGCC/TGGGCC 2 -- ut311Minor allele frequency- T:0.02WA 118
    rs73627121,2
    		C,H--4788150(+) GGTTCT/GGGAAT 2 -- ut31 ese34Minor allele frequency- G:0.00NS EA 418
    rs412794421,2
    		--4788581(+) ACCATC/TAGGAC 2 -- ut310--------
    rs585999561,2
    		C,--4788869(+) GGATTG/ACCCAC 2 -- ut312Minor allele frequency- A:0.15CSA WA 120
    rs559502141,2
    		--4788956(+) CTAACC/TGGCCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC23A2 (4833002 - 4990939 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SLC23A2
         2 CNVs: 6049 50676

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    Disorders / Diseases
    for SLC23A2 gene

    (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.)
    About This Section
    SLC23A2 for disorders           About GeneDecksing

    OMIM gene information: 603791    OMIM disorders: --

    14 diseases for SLC23A2:    About MalaCards
    cystic fibrosis    cholestasis    hyperlipidemia    pulmonary disease
    choriocarcinoma    fibrosis    gastric cancer    adenoma
    pneumonia    esophagitis    neuroblastoma    adenocarcinoma
    hepatitis    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: SLC23A2 (16 documents)

    Export disorders for SLC23A2 gene to outside databases

    Publications
    for SLC23A2 gene

    (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 84):
    (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. 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)
    4. 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)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    8. Vitamin C transport systems of mammalian cells. (PubMed id 11396616)1, 2 Liang W.J.... Jarvis S.M. (2001)
    9. A family of mammalian Na+-dependent L-ascorbic acid transporters. (PubMed id 10331392)1, 3 Tsukaguchi H....Hediger M.A. (1999)
    10. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T....Nomura N. (1996)

    External Searches for SLC23A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing SLC23A2 gene

    (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

    Other Databases showing SLC23A2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0238

    Specialized Databases showing SLC23A2 gene

    (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

    Intellectual Property
    for SLC23A2 gene

    (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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