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SLC13A3 Gene

protein-coding   GIFtS: 59
GCID: GC20M045186

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

  See SLC13A3-related disease
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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   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 Chromatin IP Primers for SLC13A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S13A3_HUMAN, Q8WWT9 (See protein sequence)
Recommended Name: Solute carrier family 13 member 3  
Size: 602 amino acids; 66841 Da
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: 

  • Glycosylation2 at Asn586, Asn596
  • Modification sites at PhosphoSitePlus

  • See SLC13A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    SLC13A3 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SLC13A3 

     
    antibodies-online proteins for SLC13A3 (3 products) 

     
    antibodies-online peptides for SLC13A3

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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: 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


    Find genes that share domains with SLC13A3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0015362high affinity sodium:dicarboxylate symporter activity IEA--
         
    Find genes that share ontologies with SLC13A3           About GenesLikeMe


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

         1 MGI phenotypic allele for Slc13a3 (no phenotypes)

    Find genes that share phenotypes with SLC13A3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SLC13A3

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    hsa-miR-15a hsa-miR-331-3p hsa-miR-503 hsa-miR-424 hsa-miR-186 hsa-miR-28-5p hsa-miR-195 hsa-miR-15b
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC13A3


    (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
    S13A3_HUMAN, Q8WWT9: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with SLC13A3           About GenesLikeMe


    (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 SLC13A3 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    Sodium-coupled sulphate, di- and tri-carboxylate transporters0.00


    Find genes that share SuperPaths with SLC13A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC13A3
        Sodium-coupled sulphate, di- and tri-carboxylate transporters


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC13A3
    Interactions:

        Search GeneGlobe Interaction Network for SLC13A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for SLC13A3 (ENSP000002790274) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC20A1ENSP000002725424STRING: ENSP00000272542
    SLC20A2ENSP000003404654STRING: ENSP00000340465
    RPN1ENSP000002962554STRING: ENSP00000296255
    SLC13A2ENSP000003162024STRING: ENSP00000316202
    SLC13A5ENSP000002938004STRING: ENSP00000293800
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

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

    Find genes that share ontologies with SLC13A3           About GenesLikeMe



    (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 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)



    Find genes that share compounds with SLC13A3           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    hsa-miR-15a hsa-miR-331-3p hsa-miR-503 hsa-miR-424 hsa-miR-186 hsa-miR-28-5p hsa-miR-195 hsa-miR-15b
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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 

    Selected AceView cDNA sequences (see all 348):

    NM_033550 CR606281 CB163315 BI765509 AI889233 AI510701 BE048937 BX104251 
    AI264679 BQ013528 AA490068 AA577319 AK023307 BM461920 AL704822 AI014383 
    BM477179 BM468470 BM855104 BM477349 BM762061 AI201331 AJ713978 AB017505 

    GeneLoc Exon Structure

    Selected 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™, 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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    SLC13A3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Epithelial Cells
             Proximal Tubule Cells Proximal Tubule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
    SLC13A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC13A3 Protein Expression

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

    Orthologs for SLC13A3 gene from Selected species (see all 17)    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 74.97(n)
    79.97(a)
      770495  XM_003642481.2  XP_003642529.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC13A36
    solute carrier family 13 (sodium-dependent dicarbo...
    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 66.08(n)
    69.2(a)
      405838  NM_212902.1  NP_998067.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73096
    --
    21(a)
    many ↔ many
    2L(10906270-10908812)
    worm
    (Caenorhabditis elegans)
    Secernentea F31F6.63
    nac-21
    Na+/sulphate co-transporter like3
    nac-21
    37(a)
    (best of 3)3
    45.89(n)1
    39.81(a)1
      X(14930379-14933500)3
    1878981  NM_001268047.11  NP_001254976.11 
    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)
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    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

    Find genes that share paralogs with SLC13A3           About GenesLikeMe



    (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 SLC13A3 (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC13A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC13A3

    (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: 606411    OMIM disorders: --

    1 disease for SLC13A3:    
    About MalaCards
    axenfeld-rieger syndrome

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

    Find genes that share disorders with SLC13A3           About GenesLikeMe

    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)
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    PubMed articles for SLC13A3 gene, integrated from 10 sources (see all 32):
    (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. (Am. J. Physiol. 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. (Am. J. Physiol. Renal Physiol. 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. (Genomics 2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. (Genome Res. 2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 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. (J. Pharmacol. Exp. Ther. 2000)
    8. Membrane topology structure of human high-affinity, sodium-dependent dicarboxylate transporter. (PubMed id 17426067)2, 9 Bai X.Y.... Fu B. (FASEB J. 2007)
    9. Identification of basolateral membrane targeting signal of human sodium-dependent dicarboxylate transporter 3. (PubMed id 16331647)1, 9 Bai X....Shi S. (J. Cell. Physiol. 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. (Nephrol. Dial. Transplant. 2007)

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

    (According to HUGE)
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      --

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