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

SLC13A3 Gene

protein-coding   GIFtS: 58
GCID: GC20M045186

Solute Carrier Family 13 (Sodium-Dependent Dicarboxylate...

  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 13 (Sodium-Dependent Dicarboxylate Transporter),
Member 31 2
     Na(+)/Dicarboxylate Cotransporter 32 3
NADC32 3 5     naDC-32
Sodium-Dependent High-Affinity Dicarboxylate Transporter 22 3     Sodium-Dependent High Affinity Dicarboxylate Transporter 32
SDCT22 3     Solute Carrier Family 13 Member 32
hNaDC32 3     NaDC-33

External Ids:    HGNC: 144301   Entrez Gene: 648492   Ensembl: ENSG000001582967   OMIM: 6064115   UniProtKB: Q8WWT93   

Export aliases for SLC13A3 gene to outside databases

Previous GC identifers: GC20M044915 GC20M045824 GC20M045871 GC20M044619 GC20M041927


(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 SLC13A3 Gene:
Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall
into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and
high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded
by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different
isoforms have been found for this gene, although the full-length nature of some of them have not been
characterized yet. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC13A3 Gene: 
SLC13A3 (solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3) is a protein-coding gene. Diseases associated with SLC13A3 include axenfeld-rieger syndrome, and canavan disease, and among its related super-pathways are Transmembrane transport of small molecules and Sodium-coupled sulphate, di- and tri-carboxylate transporters. GO annotations related to this gene include high affinity sodium:dicarboxylate symporter activity. An important paralog of this gene is SLC13A5.

UniProtKB/Swiss-Prot: S13A3_HUMAN, Q8WWT9
Function: High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-5 carbon
atoms. The stoichiometry is probably 3 Na(+) for 1 divalent succinate

Gene Wiki entry for SLC13A3 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_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC13A3 gene promoter:
         GR   GR-beta   STAT1beta   STAT1alpha   E47   Egr-4   Egr-2   POU2F1   POU2F1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC13A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC13A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC13A3


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

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

SLC13A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC13A3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M045186:  view genomic region     (about GC identifiers)

Start:
45,186,462 bp from pter      End:
45,313,124 bp from pter
Size:
126,663 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: S13A3_HUMAN, Q8WWT9 (See protein sequence)
Recommended Name: Solute carrier family 13 member 3  
Size: 602 amino acids; 66841 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAF73251.1; Type=Frameshift; Positions=188, 199; Sequence=CAC09447.2; Type=Erroneous
initiation; Sequence=CAI42505.1; Type=Erroneous gene model prediction; Sequence=CAI42506.1; Type=Erroneous gene
model prediction; Sequence=CAI42507.1; Type=Erroneous gene model prediction;
Secondary accessions: B4DIR8 E1P5U4 Q5JYC9 Q5JYD0 Q5JYD1 Q5TCQ2 Q8IVB1 Q8N8K4 Q96MM5 Q9BR25
Q9H1G1 Q9H3W4 Q9NQN5 Q9NS04
Alternative splicing: 5 isoforms:  Q8WWT9-1   Q8WWT9-2   Q8WWT9-3   Q8WWT9-4   Q8WWT9-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC13A3: NX_Q8WWT9

Explore proteomics data for SLC13A3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WWT9

  • SLC13A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC13A3 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001011554.1  NP_001180268.1  NP_001180269.1  NP_001180271.1  NP_073740.2  

    ENSEMBL proteins: 
     ENSP00000279027   ENSP00000420177   ENSP00000415852   ENSP00000419621   ENSP00000417784  
     ENSP00000394217   ENSP00000395095   ENSP00000397955   ENSP00000290317   ENSP00000379648  
     ENSP00000403394   ENSP00000361193   ENSP00000344912  
    Reactome Protein details: Q8WWT9
    Human Recombinant Protein Products for SLC13A3: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    SLC13A3 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: Na+/dicarboxylate cotransporter 3 
    SLC13 family of sodium-dependent sulphate/carboxylate transporters

    1 InterPro protein domain:
     IPR001898 Na/sul_symport

    Graphical View of Domain Structure for InterPro Entry Q8WWT9

    ProtoNet protein and cluster: Q8WWT9

    1 Blocks protein domain: IPB001898 Sodium/sulphate symporter

    UniProtKB/Swiss-Prot: S13A3_HUMAN, Q8WWT9
    Similarity: Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily


    SLC13A3 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: S13A3_HUMAN, Q8WWT9
    Function: High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-5 carbon
    atoms. The stoichiometry is probably 3 Na(+) for 1 divalent succinate

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0015362high affinity sodium:dicarboxylate symporter activity IEA--
         
    SLC13A3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC13A3:
     Increased number of cells in m 

    Animal Models:
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    Inhib. RNA
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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 SLC13A3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Bile salt and organic anion SLC transporters
    Bile salt and organic anion SLC transporters0.42
    Sodium-coupled sulphate, di- and tri-carboxylate transporters0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for SLC13A3
        Sodium-coupled sulphate, di- and tri-carboxylate transporters
    Bile salt and organic anion SLC transporters
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds



    SLC13A3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC13A3

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006814sodium ion transport ----
    GO:0006835dicarboxylic acid transport ----
    GO:0055085transmembrane transport TAS--

    SLC13A3 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

    SLC13A3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC13A3 (S13A3)

    2 HMDB Compounds for SLC13A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--

    1 DrugBank Compound for SLC13A3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--16524379 16735460 17526543 15944208 15561973

    6 Novoseek inferred chemical compound relationships for SLC13A3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dicarboxylate 88.4 10 15983172 (1), 16331647 (1), 17356845 (1), 17426067 (1) (see all 7)
    glutaric acid 82.3 4 17356845 (2), 18365245 (2)
    succinate 66 4 10794676 (2), 17395152 (1)
    alpha-ketoglutarate 64 1 15561973 (1)
    citrate 49.7 3 10794676 (1), 12812680 (1)
    sodium 14.7 1 17395152 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC13A3 / S13A3

    (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 SLC13A3 gene (5 alternative transcripts): 
    NM_001011554.2  NM_001193339.1  NM_001193340.1  NM_001193342.1  NM_022829.5  

    Unigene Cluster for SLC13A3:

    Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3
    Hs.655498  [show with all ESTs]
    Unigene Representative Sequence: NM_001011554
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000279027(uc002xsf.2 uc010zxx.2 uc010zxw.2) ENST00000472148
    ENST00000413164 ENST00000495082 ENST00000468915 ENST00000464518 ENST00000450298
    ENST00000420568 ENST00000417157(uc002xsi.4) ENST00000290317(uc010ghn.2 uc002xsg.2 uc010gho.2)
    ENST00000396360 ENST00000435032(uc002xse.2 uc010ghm.2 uc010zxv.2)
    ENST00000372121 ENST00000339636
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    Additional mRNA sequence: 

    AF154121.1 AK056713.1 AK096658.1 AK123351.1 AK293902.1 AK295748.1 AK303709.1 AK310767.1 
    AK310960.1 AK315131.1 AL442082.1 AY072810.3 BC014931.1 BC035966.1 

    21 DOTS entries:

    DT.453172  DT.95166469  DT.101965218  DT.40107818  DT.99939296  DT.120797018  DT.101979455  DT.100023265 
    DT.120797033  DT.91766786  DT.75101225  DT.120797029  DT.100823469  DT.97841940  DT.120796969  DT.95155506 
    DT.95241639  DT.75192664  DT.99951619  DT.100023266  DT.92019887 

    24/348 AceView cDNA sequences (see all 348):

    BE048937 AA024538 BM474324 BM847243 AI767571 NM_033550 CB048855 CA396775 
    AI282453 BM052824 BU553538 BM761250 AA857203 AI473110 AA707785 AI753378 
    NM_022829 BM905899 BX281293 CF541051 AY072810 AK096502 AA767449 BC009727 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for SLC13A3 (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^
    SP1:              -                                   -     -           -     -     -                                                           -               
    SP2:              -     -                             -     -           -     -     -                                                                           
    SP3:                                                  -     -     -     -     -     -                             -                                             
    SP4:                                                                                -                                                           -               
    SP5:        -     -                                   -     -           -     -     -                                                                           

    ExUns: 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d · 20e · 20f
    SP1:  -           -     -     -                 -     -                                                   
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for SLC13A3

    (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

    SLC13A3 expression in normal human tissues (normalized intensities)      SLC13A3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC13A3 Expression
    About this image


    SLC13A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             Olfactory Bulb   
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Placenta (Extraembryonic Tissues)
             placenta   

    See SLC13A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC13A3

    SOURCE GeneReport for Unigene cluster: Hs.655498

    UniProtKB/Swiss-Prot: S13A3_HUMAN, Q8WWT9
    Tissue specificity: Expression is highest in kidney. Detected in placenta, brain, liver and pancreas

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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 SLC13A3 gene from 9/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc13a31 , 5 solute carrier family 13 (sodium-dependent dicarboxylate more1, 5 85.98(n)1
    88.15(a)1
      2 (85.54 cM)5
    1146441  NM_054055.21  NP_473396.11 
     1654050285 
    chicken
    (Gallus gallus)
    Aves SLC13A31 solute carrier family 13 (sodium-dependent dicarboxylate more 74.92(n)
    79.73(a)
      770495  XM_003642481.1  XP_003642529.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC13A36
    Uncharacterized protein
    74(a)
    1 ↔ 1
    4(144585717-144643425)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX850871.12   -- 74.22(n)    BX850871.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc13a31 solute carrier family 13 (sodium-dependent dicarboxylate more 65.91(n)
    68.89(a)
      405838  NM_212902.1  NP_998067.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG339346
    Indy6
    (see all 4)
    I'm not dead yet
    (see all 4)
    33(a)
    33(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3R(15868479-15874438)
    3L(18821732-18839367)
    worm
    (Caenorhabditis elegans)
    Secernentea F31F6.63 Na+/sulphate co-transporter like 37(a)
    (best of 3)
      X(14930379-14933500)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PHO87(YCR037C)4 Low-affinity inorganic phosphate (Pi) transporter, more   --   3(197185-194414) 850403  NP_009966.2 
    rice
    (Oryza sativa)
    Liliopsida Os.150922 Oryza sativa (japonica cultivar-group) cDNA clone0 more 70.44(n)    AK105756.1 


    ENSEMBL Gene Tree for SLC13A3 (if available)
    TreeFam Gene Tree for SLC13A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC13A3 gene
    SLC13A52  SLC13A42  SLC13A12  SLC13A22  
    5 SIMAP similar genes for SLC13A3 using alignment to 6 protein entries:     S13A3_HUMAN (see all proteins):
    SLC13A5    SLC13A2    DKFZp686E17257    SLC13A1    SLC13A4

    SLC13A3 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

    10/2867 SNPs in SLC13A3 are shown (see all 2867)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1887006761,2
    Cuntested145188833(+) CTGTCC/TGCACC 10 Q R mis10--------
    rs14055651,2
    C,F,A,H--45186029(+) GCTAGG/AATGCC 5 -- ds500118Minor allele frequency- A:0.17EA NA WA CSA 593
    rs14055661,2
    C,F,A,H--45186056(+) AGAGAG/CACCTG 5 -- ds500117Minor allele frequency- C:0.19NA WA CSA EA 517
    rs754215461,2
    C,F--45186078(+) GAAGAG/AGCAGA 5 -- ds50012Minor allele frequency- A:0.12WA EA 238
    rs14055671,2
    C,F,O,A,H--45186122(+) CAGAGC/TACCCA 5 -- ds5001105Minor allele frequency- T:0.23NS EA NA PA EU CA WA CSA 6770
    rs1854931701,2
    --45186281(+) TAGTGC/TCACCT 5 -- ds50010--------
    rs60943771,2
    H--45186285(+) gccacC/Ttgctc 5 -- ds50014Minor allele frequency- T:0.00NS EA 418
    rs1899219701,2
    --45186386(+) ATGACC/TTGTTT 5 -- ds50010--------
    rs4301141,2
    C,H--45186397(-) AATAGG/AAACAT 5 -- ds500114Minor allele frequency- A:0.07NA WA CSA EA 381
    rs14055681,2
    C,F,H--45186436(+) ccatgT/Agggcg 5 -- ds50015Minor allele frequency- A:0.07NS EA WA 534

    HapMap Linkage Disequilibrium report for SLC13A3 (45186462 - 45313124 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for SLC13A3 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2722462CNV Deletion23290073
    esv2722463CNV Deletion23290073
    esv2722464CNV Deletion23290073
    esv2722460CNV Deletion23290073
    nsv509771CNV Insertion20534489
    nsv179106CNV Loss16902084
    nsv912901CNV Loss21882294
    nsv179609CNV Loss16902084
    nsv912900CNV Loss21882294
    esv32661CNV Gain17666407

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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: 606411    OMIM disorders: --

    3 diseases for SLC13A3:    About MalaCards
    axenfeld-rieger syndrome    canavan disease    diastrophic dysplasia

    2 diseases from the University of Copenhagen DISEASES database for SLC13A3:
    Axenfeld-Rieger syndrome     Diastrophic dysplasia

    SLC13A3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC13A3
    Human Genome Epidemiology (HuGE) Navigator: SLC13A3 (1 document)

    Export disorders for SLC13A3 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 SLC13A3 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with SLC13A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure, function, and genomic organization of human Na(+)- dependent high-affinity dicarboxylate transporter. (PubMed id 10794676)1, 2, 3, 9 Wang H.... Ganapathy V. (2000)
    2. Substrate specificity of the human renal sodium dicarboxylate cotransporter, hNaDC-3, under voltage-clamp conditions. (PubMed id 15561973)1, 7, 9 Burckhardt B.C....Burckhardt G. (2005)
    3. Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PubMed id 18602983)1, 4, 9 Bento J.L....Mychaleckyj J.C. (2008)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. Transport of N-acetylaspartate by the Na(+)-dependent high-affinity dicarboxylate transporter NaDC3 and its relevance to the expression of the transporter in the brain. (PubMed id 10992006)1, 3 Huang W....Ganapathy V. (2000)
    8. Membrane topology structure of human high-affinity, sodium-dependent dicarboxylate transporter. (PubMed id 17426067)2, 9 Bai X.Y....Fu B. (2007)
    9. Identification of basolateral membrane targeting signal of human sodium-dependent dicarboxylate transporter 3. (PubMed id 16331647)1, 9 Bai X....Shi S. (2006)
    10. Mycophenolic acid (MPA) and its glucuronide metabolites interact with transport systems responsible for excretion of organic anions in the basolateral membrane of the human kidney. (PubMed id 17526543)7, 9 Wolff N.A....Armstrong V.W. (2007)

    (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: 64849 HGNC: 14430 AceView: SLC13A3andTP53RK Ensembl:ENSG00000158296 euGenes: HUgn64849
    ECgene: SLC13A3 H-InvDB: SLC13A3

    (According to HUGE)
    About This Section
      --

    (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 SLC13A3 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 SLC13A3 gene:
    Search GeneIP for patents involving SLC13A3

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



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