SLC13A3 Gene (Protein Coding)

Solute Carrier Family 13 Member 3

GC20M046557
GIFtS:
43
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. Alt... See more...

Aliases for SLC13A3 Gene

Aliases for SLC13A3 Gene

  • Solute Carrier Family 13 Member 3 2 3 4 5
  • NADC3 2 3 4
  • SDCT2 2 3 4
  • Na(+)/Dicarboxylate Cotransporter 3 3 4
  • HNaDC3 3 4
  • NaDC-3 3 4
  • Solute Carrier Family 13 (Sodium-Dependent Dicarboxylate Transporter), Member 3 2
  • Sodium-Dependent High Affinity Dicarboxylate Transporter 3 3
  • Sodium-Dependent High-Affinity Dicarboxylate Transporter 2 4
  • SLC13A3 5
  • ARLIAK 3

External Ids for SLC13A3 Gene

Previous GeneCards Identifiers for SLC13A3 Gene

  • GC20M044915
  • GC20M045824
  • GC20M045871
  • GC20M044619
  • GC20M045186
  • GC20M041927

Summaries for SLC13A3 Gene

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 Member 3) is a Protein Coding gene. Diseases associated with SLC13A3 include Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate and N-Acetylglutamate Synthase Deficiency. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and high-affinity sodium:dicarboxylate symporter activity. An important paralog of this gene is SLC13A2.

UniProtKB/Swiss-Prot Summary for SLC13A3 Gene

  • High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-6 carbon atoms, including succinate, alpha-ketoglutarate and N-acetylaspartate (PubMed:30635937). The stoichiometry is probably 3 Na(+) for 1 divalent succinate.

Gene Wiki entry for SLC13A3 Gene

Additional gene information for SLC13A3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC13A3 Gene

Genomics for SLC13A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLC13A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20J046682 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 605.3 +0.5 548 2.4 BRCA1 ARHGAP35 IKZF1 FOXA1 DDX20 REST ZNF24 SP1 POLR2A ELF4 SLC13A3 ENSG00000273893 CD40 NCOA5 PCIF1 ZNF335 SLC35C2 SLC2A10 OCSTAMP NCOA3
GH20J046687 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 608.9 -4.5 -4542 3.5 BRCA1 CEBPG CREB1 GATAD2A ATF7 TFE3 IKZF1 KDM1A ZNF692 RCOR2 SLC13A3 ENSG00000271784 TP53RK
GH20J046650 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.3 +33.0 32984 0.6 HNRNPL GATAD2A TFE3 NFKBIZ KDM1A RCOR2 ZNF7 RBFOX2 IRF2 POLR2A SLC13A3 lnc-TP53RK-2 piR-50437-408 OCSTAMP
GH20J046642 Promoter/Enhancer 0.8 EPDnew dbSUPER 612.1 +41.9 41899 0.1 JUND RAD21 ZKSCAN1 HNF4A RXRA SP1 SLC13A3 SLC2A10 lnc-TP53RK-2 piR-50437-408 OCSTAMP
GH20J046562 Promoter/Enhancer 1.6 ENCODE CraniofacialAtlas dbSUPER 19.7 +121.6 121592 2.3 GATAD2A CTCF ARID3A TFE3 FOXA1 PRDM1 ZNF143 ZIC2 PKNOX1 RAD21 SLC13A3 CD40 NCOA5 NCOA3 ENSG00000271984 ZNF334 TP53RK SLC35C2 ZNF335 PCIF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC13A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC13A3

Top Transcription factor binding sites by QIAGEN in the SLC13A3 gene promoter:
  • E47
  • Egr-2
  • Egr-4
  • GR
  • GR-alpha
  • GR-beta
  • POU2F1
  • POU2F1a
  • STAT1alpha
  • STAT1beta

Genomic Locations for SLC13A3 Gene

Genomic Locations for SLC13A3 Gene
chr20:46,557,823-46,684,485
(GRCh38/hg38)
Size:
126,663 bases
Orientation:
Minus strand
chr20:45,186,462-45,313,124
(GRCh37/hg19)
Size:
126,663 bases
Orientation:
Minus strand

Genomic View for SLC13A3 Gene

Genes around SLC13A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC13A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC13A3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC13A3 Gene

Proteins for SLC13A3 Gene

Products:

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  • Protein details for SLC13A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWT9-S13A3_HUMAN
    Recommended name:
    Solute carrier family 13 member 3
    Protein Accession:
    Q8WWT9
    Secondary Accessions:
    • B4DIR8
    • E1P5U4
    • F6WI18
    • Q5JYC9
    • Q5JYD0
    • Q5JYD1
    • Q5TCQ2
    • Q8IVB1
    • Q8N8K4
    • Q96MM5
    • Q9BR25
    • Q9H1G1
    • Q9H3W4
    • Q9NQN5
    • Q9NS04

    Protein attributes for SLC13A3 Gene

    Size:
    602 amino acids
    Molecular mass:
    66841 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF73251.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAC09447.2; Type=Miscellaneous discrepancy; Note=erroneous CDS prediction.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC13A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC13A3 Gene

Protein Expression for SLC13A3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC13A3 Gene

  • Glycosylation at Asn586 and Asn596
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC13A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC13A3 Gene

Domains & Families for SLC13A3 Gene

Gene Families for SLC13A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC13A3 Gene

InterPro:
Blocks:
  • Sodium/sulphate symporter
ProtoNet:

Suggested Antigen Peptide Sequences for SLC13A3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59540, highly similar to Solute carrier family 13 member 3 (B4DIR8_HUMAN)
  • cDNA FLJ56282, highly similar to Solute carrier family 13 member 3 (B4E181_HUMAN)
  • Sodium-dependent high-affinity dicarboxylate transporter 2 (S13A3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WWT9

UniProtKB/Swiss-Prot:

S13A3_HUMAN :
  • Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily.
Family:
  • Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily.
genes like me logo Genes that share domains with SLC13A3: view

Function for SLC13A3 Gene

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  2. CRISPR
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Molecular function for SLC13A3 Gene

UniProtKB/Swiss-Prot Function:
High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-6 carbon atoms, including succinate, alpha-ketoglutarate and N-acetylaspartate (PubMed:30635937). The stoichiometry is probably 3 Na(+) for 1 divalent succinate.

Phenotypes From GWAS Catalog for SLC13A3 Gene

Gene Ontology (GO) - Molecular Function for SLC13A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005343 organic acid:sodium symporter activity IDA, TAS 10992006
GO:0015137 citrate transmembrane transporter activity IBA,ISS --
GO:0015139 alpha-ketoglutarate transmembrane transporter activity IDA 30635937
GO:0015141 succinate transmembrane transporter activity IDA,TAS 10992006
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC13A3: view
genes like me logo Genes that share phenotypes with SLC13A3: view

Human Phenotype Ontology for SLC13A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC13A3 Gene

MGI Knock Outs for SLC13A3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SLC13A3 Gene

Localization for SLC13A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC13A3 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC13A3 gene
Compartment Confidence
plasma membrane 5
extracellular 4
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC13A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SLC13A3: view

Pathways & Interactions for SLC13A3 Gene

genes like me logo Genes that share pathways with SLC13A3: view

Gene Ontology (GO) - Biological Process for SLC13A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006835 dicarboxylic acid transport IEA --
GO:0015742 alpha-ketoglutarate transport IEA --
GO:0015746 citrate transport IBA,ISS --
genes like me logo Genes that share ontologies with SLC13A3: view

No data available for SIGNOR curated interactions for SLC13A3 Gene

Drugs & Compounds for SLC13A3 Gene

Products:

  1. Drug

(3) Drugs for SLC13A3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Agonist, Full agonist, Transporter, substrate 0

(4) Additional Compounds for SLC13A3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
 7440-23-5
genes like me logo Genes that share compounds with SLC13A3: view

Transcripts for SLC13A3 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SLC13A3 Gene

5 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC13A3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC13A3 Gene

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: - - - - - - -
SP6:
SP7:
SP8:
SP9: - - - - - - -
SP10: - - - - - - - -
SP11: -
SP12: - -
SP13: - - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d · 20e · 20f
SP1: - - - - - -
SP2:
SP3:
SP4:
SP5:
SP6: - - - - -
SP7: - - - -
SP8: - - -
SP9:
SP10:
SP11:
SP12:
SP13: - - - - -
SP14:
SP15: -
SP16: - -
SP17:
SP18:

Relevant External Links for SLC13A3 Gene

GeneLoc Exon Structure for
SLC13A3

Expression for SLC13A3 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC13A3 Gene

mRNA expression in normal human tissues for SLC13A3 Gene
mRNA expression by GTEx for SLC13A3 GenemRNA expression by BioGPS for SLC13A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC13A3 Gene

This gene is overexpressed in Kidney - Cortex (x30.9).

Protein differential expression in normal tissues from HIPED for SLC13A3 Gene

This gene is overexpressed in Kidney (33.6), Urine (19.2), and Platelet (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC13A3 Gene



Protein tissue co-expression partners for SLC13A3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC13A3

SOURCE GeneReport for Unigene cluster for SLC13A3 Gene:

Hs.655498

mRNA Expression by UniProt/SwissProt for SLC13A3 Gene:

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

Evidence on tissue expression from TISSUES for SLC13A3 Gene

  • Nervous system(4.9)
  • Kidney(4.8)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with SLC13A3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC13A3 Gene

Orthologs for SLC13A3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC13A3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SLC13A3 30 31
  • 99.45 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC13A3 30 31
  • 89.85 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SLC13A3 30 31
  • 88.76 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Slc13a3 30
  • 86.83 (n)
Mouse
(Mus musculus)
 Mammalia Slc13a3 30 17 31
  • 85.98 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SLC13A3 31
  • 85 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SLC13A3 31
  • 80 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SLC13A3 30 31
  • 74.97 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC13A3 31
  • 74 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia slc13a3 30
  • 66.28 (n)
Zebrafish
(Danio rerio)
 Actinopterygii slc13a3 30 31
  • 66.08 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG7309 31
  • 21 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea nac-2 30
  • 45.89 (n)
nac-3 31
  • 37 (a)
 ManyToMany
F31F6.6 32
  • 37 (a)
nac-1 31
  • 36 (a)
 ManyToMany
B0285.6 32
  • 34 (a)
R107.1 32
  • 33 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PHO87 33
Rice
(Oryza sativa)
 Liliopsida Os.15092 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 40 (a)
 OneToOne
Species where no ortholog for SLC13A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC13A3 Gene

ENSEMBL:
Gene Tree for SLC13A3 (if available)
TreeFam:
Gene Tree for SLC13A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC13A3: view image

Paralogs for SLC13A3 Gene

Paralogs for SLC13A3 Gene

(5) SIMAP similar genes for SLC13A3 Gene using alignment to 6 proteins:

  • S13A3_HUMAN
  • B4E181_HUMAN
  • C9J4A3_HUMAN
  • C9J7L4_HUMAN
  • F6WI18_HUMAN
  • H7C0C8_HUMAN
genes like me logo Genes that share paralogs with SLC13A3: view

Variants for SLC13A3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC13A3 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs1568904872 Pathogenic: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE 46,560,189(-) C/T MISSENSE_VARIANT
rs1568927501 Pathogenic: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE 46,596,190(-) G/T MISSENSE_VARIANT
rs188700676 Uncertain Significance: Malignant tumor of prostate 46,560,194(-) C/T MISSENSE_VARIANT
rs199961976 Pathogenic: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE 46,589,157(-) T/C INTRON_VARIANT
rs201443231 Uncertain Significance: not provided 46,613,545(-) T/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SLC13A3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC13A3 Gene

Variant ID Type Subtype PubMed ID
dgv2258n106 CNV deletion 24896259
dgv783e214 CNV gain 21293372
esv2722460 CNV deletion 23290073
esv2722462 CNV deletion 23290073
esv2722463 CNV deletion 23290073
esv2722464 CNV deletion 23290073
esv2758797 CNV gain 17122850
esv32661 CNV gain 17666407
esv34663 CNV gain 17911159
esv3645955 CNV loss 21293372
esv6676 CNV gain 19470904
nsv1061899 CNV loss 25217958
nsv179106 CNV deletion 16902084
nsv179609 CNV deletion 16902084
nsv475262 CNV novel sequence insertion 20440878
nsv509771 CNV insertion 20534489
nsv828733 CNV gain 20364138
nsv833994 CNV gain 17160897
nsv9812 CNV gain 18304495

Variation tolerance for SLC13A3 Gene

Residual Variation Intolerance Score: 33.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC13A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC13A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC13A3 Gene

Disorders for SLC13A3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SLC13A3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
  • arliak
n-acetylglutamate synthase deficiency
  • nagsd
dental anomalies and short stature
  • dass
nephrolithiasis, uric acid
  • nephrolithiasis, uric acid, susceptibility to
canavan disease
  • canavan-van bogaert-bertrand disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S13A3_HUMAN
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (ARLIAK) [MIM:618384]: An autosomal recessive disorder characterized by acute, reversible neurological deterioration during febrile illness. Patients exhibit reversible leukoencephalopathy and increased urinary excretion of alpha-ketoglutarate. {ECO:0000269 PubMed:30635937}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC13A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC13A3: view

No data available for Genatlas for SLC13A3 Gene

Publications for SLC13A3 Gene

  1. Structure, function, and genomic organization of human Na(+)-dependent high-affinity dicarboxylate transporter. (PMID: 10794676) Wang H … Ganapathy V (American journal of physiology. Cell physiology 2000) 2 3 4 23
  2. Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento JL … Mychaleckyj JC (Genomics 2008) 3 23 41
  3. Substrate specificity of the human renal sodium dicarboxylate cotransporter, hNaDC-3, under voltage-clamp conditions. (PMID: 15561973) Burckhardt BC … Burckhardt G (American journal of physiology. Renal physiology 2005) 3 23 26
  4. SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation. (PMID: 30635937) Dewulf JP … Schiff M (Annals of neurology 2019) 3 4
  5. Membrane topology structure of human high-affinity, sodium-dependent dicarboxylate transporter. (PMID: 17426067) Bai XY … Fu B (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007) 4 23

ExternalLinks

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